| 1. Geschwind MD, Shu H, Haman A, Sejvar JJ, Miller BL. Rapidly progressive dementia. [Review] [130 refs]. Annals of Neurology. 64(1):97-108, 2008 Jul. |
Review/Other-Dx |
178 patients |
To summarize recent advances in the understanding of the major categories of RPD and outlines efficient approaches to the diagnosis of the various neurodegenerative, toxic-metabolic, infectious, autoimmune, neoplastic, and other conditions that may progress rapidly. |
No results stated in the abstract |
4 |
| 2. Geschwind MD. Prion Diseases. Continuum (Minneap Minn). 2015;21(6 Neuroinfectious Disease):1612-1638. |
Review/Other-Dx |
N/A |
To present an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. |
No results stated in abstract. |
4 |
| 3. Foutz A, Appleby BS, Hamlin C, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Annals of Neurology. 81(1):79-92, 2017 Jan. |
Observational-Dx |
2,141 patients |
To investigate the diagnostic performance of the RT-QuIC prion test in the broad phenotypic spectrum of prion diseases. |
The 98.5% diagnostic specificity and 92% sensitivity of CSF RT-QuIC in a blinded retrospective analysis matched the 100% specificity and 95% sensitivity of a blind prospective study. The CSF RT-QuIC differentiated 94% of cases of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 from the sCJD MM2 phenotype, and 80% of sCJD VV2 from sCJD VV1. The mixed prion type 1-2 and cases heterozygous for codon 129 generated intermediate CSF RT-QuIC patterns, whereas genetic prion diseases revealed distinct profiles for each PRNP gene mutation. |
2 |
| 4. Engler H, Lundberg PO, Ekbom K, et al. Multitracer study with positron emission tomography in Creutzfeldt-Jakob disease. Eur J Nucl Med Mol Imaging. 2003;30(1):85-95. |
Experimental-Dx |
15 patients |
To detect characteristic signs of Creutzfeldt-Jakob disease, e.g. neuronal death and/or astrocytosis in the brain. |
The examinations were performed in one session starting with oxygen-15 labelled water scan to measure regional cerebral blood flow, followed by imaging with the monoamine oxidase B inhibitor N-[(11)C-methyl]- L-deuterodeprenyl (DED) to assess astrocytosis in the brain and finally imaging with fluor-18 2-fluorodeoxyglucose (FDG) to assess regional cerebral glucose metabolism (rCMR(glu)) [corrected]. Nine of the patients fulfilled the clinical criteria of probable CJD. In eight of them, FDG and DED imaging revealed, in comparison with normal controls, a typical pattern characterized by a pronounced regional decrease (<2SD) in glucose brain metabolism, indicative of neuronal dysfunction; this was accompanied by a similar increase (>2SD) in DED binding, indicating astrocytosis. These changes were most pronounced in the cerebellum and the frontal, occipital and parietal cortices, whereas the pons, the thalamus and the putamen were less affected and the temporal cortex appeared unaffected. The cerebral blood flow showed a pattern similar to that observed with FDG. In the ninth patient, analysis with DED was not possible. The diagnosis of definite CJD according to international consensus criteria was confirmed in six of these patients. In one patient with probable CJD, protease-resistant prion protein (PrPres) could not be demonstrated. In two patients with probable CJD, autopsy was not allowed. Computed tomography and magnetic resonance imaging, performed in four and seven of these nine patients respectively, showed unspecific, mainly atrophic changes. In six other patients, the PET examinations gave a different pattern. In three of them, high rCMR(glu) was noticed in parts of the brain, particularly in the temporal lobes and basal ganglia, which could suggest encephalitis. One of the patients had Sjogren's syndrome, one had paraneoplastic limbic encephalitis and the third recovered spontaneously. In the other three patients, the DED binding was normal despite a hypometabolic glucose pattern. |
2 |
| 5. Goldman S, Laird A, Flament-Durand J, et al. Positron emission tomography and histopathology in Creutzfeldt-Jakob disease. Neurology. 1993;43(9):1828-1830. |
Review/Other-Dx |
1 Patient. |
To study a 62-year-old man with Creutzfeldt-Jakob disease (CJD), using positron emission tomography (PET) and (18F)-2-fluoro-2-deoxy-D-glucose (FDG). |
At autopsy, regional distributions of spongiosis, astrogliosis, and neuronal loss correlated with premortem regional metabolic deficits. |
4 |
| 6. Galanaud D, Haik S, Linguraru MG, et al. Combined diffusion imaging and MR spectroscopy in the diagnosis of human prion diseases. AJNR Am J Neuroradiol. 2010;31(7):1311-1318. |
Observational-Dx |
45 patients |
To evaluate the interest of MRS combined with DWI both as a diagnostic tool and a way to understand the mechanism underlying signal intensity and ADC changes in this setting. |
Among the 45 suspected cases, 31 fulfilled the criteria for probable or definite TSEs (19 sCJDs, 3 iCJDs, 2 vCJDs, and 7 genetic TSEs); and 14 were classified as AltDs. High signals in the cortex and/or basal ganglia were observed in 26/31 patients with TSEs on FLAIR and 29/31 patients on DWI. In the basal ganglia, high DWI signals corresponded to a decreased ADC. Metabolic alterations, increased mIns, and decreased NAA were observed in all patients with TSEs. ADC values and metabolic changes were not correlated; this finding suggests that neuronal stress (vacuolization), neuronal loss, and astrogliosis do not alone explain the decrease of ADC. |
2 |
| 7. Lodi R, Parchi P, Tonon C, et al. Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study. Brain. 2009;132(Pt 10):2669-2679. |
Experimental-Dx |
29 patients |
To compare the usefulness of different magnetic resonance imaging sequences and proton magnetic resonance spectroscopy in the differential diagnosis of patients with rapidly progressive neurological signs compatible with the clinical diagnosis of sporadic prion disease. |
The percentage of correctly diagnosed cases was 86% for diffusion-weighted imaging (hyperintensity in the striatum/cerebral cortex), 86% for thalamic N-acetyl-aspartate to creatine ratio (cutoff </=1.21), 90% for thalamic N-acetyl-aspartate to myo-inositol (mI) ratio (cutoff </=1.05) and 86% for cerebral spinal fluid 14-3-3 protein. All the prion disease patients had N-acetyl-aspartate to creatine ratios </=1.21 (100% sensitivity and 100% negative predictive value) and all the non-prion patients had N-acetyl-aspartate to myo-inositol ratios >1.05 (100% specificity and 100% positive predictive value). Univariate logistic regression analysis showed that the combination of thalamic N-acetyl-aspartate to creatine ratio and diffusion-weighted imaging correctly classified 93% of the patients. |
1 |
| 8. Kallenberg K, Schulz-Schaeffer WJ, Jastrow U, et al. Creutzfeldt-Jakob disease: comparative analysis of MR imaging sequences. AJNR Am J Neuroradiol. 2006;27(7):1459-1462. |
Observational-Dx |
157; 65 classified with CJD |
To compare the value of different MRI in the diagnosis of CJD. |
Cortical abnormalities were present in 70 patients (45%) and were visible in 80% (35/44) of all available DWI examinations. The basal ganglia were affected in 94 patients (60%), in particular in the caudate nucleus; the most sensitive sequences were DWI (64%) and PD-weighted (63%). A thalamic involvement was more frequently diagnosed on PD-weighted images (19%) and DWI (14%) than on FLAIR or T2-weighted images. PD-weighted images and DWI show better results in the diagnosis of signal intensity changes in the basal ganglia compared with T2-weighted DWI is the most sensitive MRI technique in the diagnosis of CJD. |
3 |
| 9. Fragoso DC, Goncalves Filho AL, Pacheco FT, et al. Imaging of Creutzfeldt-Jakob Disease: Imaging Patterns and Their Differential Diagnosis. [Review]. Radiographics. 37(1):234-257, 2017 Jan-Feb. |
Review/Other-Dx |
N/A |
To review the update on the neuroimaging patterns and the differential Diagnosisof sporadic Creutzfeldt-Jakob disease (sCJD). |
No results stated in the abstract. |
4 |
| 10. Collie DA, Summers DM, Sellar RJ, et al. Diagnosing variant Creutzfeldt-Jakob disease with the pulvinar sign: MR imaging findings in 86 neuropathologically confirmed cases. AJNR Am J Neuroradiol. 2003;24(8):1560-1569. |
Observational-Dx |
82 suspected cases of vCJD |
To evaluate pulvinar sign prospectively and further define the MRI characteristics of vCJD. (Symmetrical hyperintensity in the pulvinar (posterior) nuclei of the thalamus (pulvinar sign) on brain MRI.) |
Pulvinar sign was present on 7 (9%) of 75 T1-weighted, 77 (71%) of 108 T2-weighted, 47 (81%) of 58 proton density-weighted, and 30 (100%) of 30 FLAIR images. DWI were available in two cases and were positive for the pulvinar sign in one. Other features were hyperintensity of the dorsomedial thalamic nuclei (93%), caudate head (40%), and periaqueductal gray matter (83%) on FLAIR images. In the appropriate clinical context, demonstration of the pulvinar sign on MRI is a highly accurate diagnostic sign for vCJD. FLAIR sequence is more sensitive than other sequences. Positive MR images may obviate more invasive diagnostic tests in most cases. |
3 |
| 11. Letourneau-Guillon L, Wada R, Kucharczyk W. Imaging of prion diseases. J Magn Reson Imaging. 2012;35(5):998-1012. |
Review/Other-Dx |
N/A |
To present a review of the neuroimaging features of the prion disorders known to affect humans emphasizing the important contribution of MRI in the diagnosis of this group of disorders. |
No results stated in abstract. |
4 |
| 12. Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology. 2004;63(3):443-449. |
Observational-Dx |
36 patients |
To evaluate the usefulness of diffusion-weighted MRI (DWI) for the early diagnosis of Creutzfeldt-Jakob disease (CJD). |
The percentage of DWI abnormalities was 92.3%, of PSWCs 50.0%, of 14-3-3 protein detection 84.0%, and of NSE increase 73.3%. Two of the 32 control subjects were falsely positive on DWI. The sensitivity of DWI was 92.3% (95% CI 74.8 to 99.5%) and specificity 93.8% (95% CI 79.2 to 99.2%). In 17 patients who did not show PSWCs on the first EEG, abnormal DWI findings were still clearly detected. Four patients who were negative for 14-3-3 protein also showed DWI abnormalities. DWI abnormalities were detected as early as at 3 weeks of symptom duration in four patients in whom PSWCs were not yet evident. |
2 |
| 13. Tschampa HJ, Kallenberg K, Kretzschmar HA, et al. Pattern of cortical changes in sporadic Creutzfeldt-Jakob disease. AJNR Am J Neuroradiol. 2007;28(6):1114-1118. |
Observational-Dx |
39 patients |
To assess the extent and location of high cortical signal intensity, to investigate whether DW or FLAIR is superior in showing changes in cortical signal intensity, and to find out whether the distribution of the signal intensity changes is random or follows a common pattern. |
There was high signal intensity in the insula, the cingulate gyrus, and the superior frontal gyrus in 95%. The cortical areas near the midline also frequently showed the abnormal signal intensity (precuneus 87%, paracentral lobe 77%). The precentral and postcentral gyri were affected less frequently (41% and 28%, respectively). The DW MR imaging showed the cortical changes more effectively than FLAIR. There was no correlation between the distribution of changes and additional signal alterations in deep gray matter or the genotype of codon 129. |
2 |
| 14. Tschampa HJ, Kallenberg K, Urbach H, et al. MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement. Brain. 2005;128(Pt 9):2026-2033. |
Observational-Dx |
193 suspected sCJD patients |
To investigate the reliability of MRI in the sCJD diagnosis. |
Sensitivity of MRI in clinically probable or autopsy-proven sCJD was 59.7% for Observer 1, 58.3% for Observer 2 and 70.8% for Observer 3. Specificity was high (84.2%, 89.5% and 81.6%, respectively). DWI sequences best showed the pathologic changes, followed by FLAIR. Periodic sharp and slow wave complexes were detected in the EEG in 32% (sensitivity); the 14-3-3 proteins in CSF were elevated in 91%. Detection of hyperintense basal ganglia in MRI helps to improve the clinical diagnosis. |
2 |
| 15. Young GS, Geschwind MD, Fischbein NJ, et al. Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol. 2005;26(6):1551-1562. |
Observational-Dx |
40 patients |
To determine the sensitivity and specificity of DWI and FLAIR imaging for diagnosing CJD (Creutzfeldt-Jakob disease). |
DWI and FLAIR imaging was 91% sensitive, 95% specific, and 94% accurate for CJD. Interrater reliability was high (kappa = 0.93). Sensitivity was higher for DWI than FLAIR imaging. Abnormalities involved cortex and deep gray matter (striatum and/or thalamus) in 68% of patients with CJD, cortex alone in 24%, and deep gray matter alone in 5%. The most typical and specific patterns were corresponding hyperintensity on both FLAIR images and DWIs confined to the gray matter in the cortex, striatum, medial and/or posterior thalamus, or a combination of these areas. Narrow-window soft-copy review of artifact-free DWIs and FLAIR images and recognition of the normal variation in cortical signal intensity proved critical for successful differentiation of CJD from other dementias. |
2 |
| 16. Caverzasi E, Mandelli ML, DeArmond SJ, et al. White matter involvement in sporadic Creutzfeldt-Jakob disease. Brain. 2014;137(Pt 12):3339-3354. |
Review/Other-Dx |
26 Patients |
To study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. |
There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (P<0.05, corrected for multiple comparisons), with a generally symmetric pattern of involvement in sporadic Creutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean diffusivity, however, was apparent visibly on the quantitative attenuation coefficient maps compared to healthy control subjects. Neuropathological analysis showed diffuse astrocytic gliosis and activated microglia in the white matter, rare prion deposition and subtle subcortical microvacuolization, and patchy foci of demyelination with no evident white matter axonal degeneration. |
4 |
| 17. De Vita E, Ridgway GR, White MJ, et al. Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. Neuroimage Clin. 2017;13:89-96. |
Observational-Dx |
24 patients |
To systematically characterize progressive atrophy in patients with prion disease and identify whether atrophy in specific brain structures correlates with clinical assessment |
In the patients there were multiple regions where volume loss significantly correlated with decreased MRC scale, partially overlapping with anatomical regions where yearly rates of volume loss were significantly greater than controls. The key anatomical areas involved included: the basal ganglia and thalamus, pons and medulla, the hippocampal formation and the superior parietal lobules. There were no areas demonstrating volume loss significantly higher in controls than patients or negative correlation between volume and MRC Scale score. |
2 |
| 18. Arata H, Takashima H, Hirano R, et al. Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu). Neurology. 2006;66(11):1672-1678. |
Review/Other-Dx |
11 patients |
|
All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal leg muscle weakness during the early stage of the disease. Dementia was not a main symptom during the early stage. Brain MRI and EEG abnormalities were not prominent initially. SPECT (N-isopropyl-p-[(123)I]iodoamphetamine) analyzed by the three-dimensional stereotactic surface projection (SSP) method detected abnormalities in five patients early during the course of the illness. SPECT findings showed diffusely decreased cerebral blood flow, demonstrated by a mosaic pattern, with the lowest perfusion noted in the occipital lobes. In contrast, blood flow to the cerebellum was preserved. These studies suggested sites of pathology in GSS102, with the main lesions probably located in the cerebrum and the spinal cord (posterior horn and spinocerebellar tract) instead of the cerebellum. |
4 |
| 19. Kim EJ, Cho SS, Jeong BH, et al. Glucose metabolism in sporadic Creutzfeldt-Jakob disease: a statistical parametric mapping analysis of (18) F-FDG PET. Eur J Neurol. 2012;19(3):488-493. |
Observational-Dx |
11 patients |
To investigate whether there are brain regions preferentially affected in sporadic Creutzfeldt-Jakob disease (CJD) using a statistical parametric mapping (SPM) analysis of (18) fluoro-2-deoxy-D-glucose (F-FDG). PET, |
The patients with sCJD showed decreased glucose metabolism in bilateral parietal, frontal and occipital cortices. The Heidenhain variant of sCJD showed glucose hypometabolism mainly in bilateral occipital areas. |
3 |
| 20. McColgan P, Tabrizi SJ. Huntington's disease: a clinical review. Eur J Neurol. 2018;25(1):24-34. |
Review/Other-Dx |
N/A |
To discuss antisense oligonucleotide therapy as an approach with clinical trials currently under way that may bring us one step closer to treating and potentially preventing Huntington's disease. |
No results stated in abstract. |
4 |
| 21. Feigin A, Leenders KL, Moeller JR, et al. Metabolic network abnormalities in early Huntington's disease: an [(18)F]FDG PET study. J Nucl Med. 2001;42(11):1591-1595. |
Experimental-Dx |
13 patients |
To use PET imaging of regional cerebral glucose metabolism to identify abnormal networks of brain regions that are specifically related to the preclinical phase of HD. |
Network analysis of the presymptomatic carriers and the gene-negative control subjects revealed a significant metabolic covariance pattern characterized by caudate and putamenal hypometabolism but also included mediotemporal metabolic reductions as well as relative metabolic increases in the occipital cortex. Subject scores for this pattern were abnormally elevated in the preclinical group compared with those of the control group (P < 0.005) and in the early symptomatic group compared with those of the presymptomatic group (P < 0.005). |
2 |
| 22. Aylward EH, Li Q, Stine OC, et al. Longitudinal change in basal ganglia volume in patients with Huntington's disease. Neurology. 1997;48(2):394-399. |
Review/Other-Dx |
23 patients |
To demonstrate an association between caudate atrophy and symptom severity and duration of symptoms in patients with Huntington's disease (HD) |
Results indicated significant decreases over time in caudate, putamen, and total basal ganglia volume. Age at onset and length of trinucleotide repeat correlated significantly with amount of volume change in caudate and total basal ganglia, even after controlling for length of interimage interval, duration of disease, and measures of symptom severity. Amount of change in basal ganglia structures was not significantly correlated with neurologic symptom severity at the time of the initial imaging or duration of symptoms. |
4 |
| 23. Harris GJ, Aylward EH, Peyser CE, et al. Single photon emission computed tomographic blood flow and magnetic resonance volume imaging of basal ganglia in Huntington's disease. Arch Neurol. 1996;53(4):316-324. |
Experimental-Dx |
10 Patients |
To examine basal ganglia dysfunction and atrophy in patients with mild to moderate Huntington's disease, with correlation of imaging measures with clinical and neuropsychological measures. DESIGN: Survey study in patients with Huntington's disease and matched controls, with imaging measures being evaluated by investigators unaware of the diagnosis. |
The measure with the greatest difference between patients and control subjects was mean putamen volume, reduced 54.3% in patients, with no overlap between groups (P<.001). Of the cerebral blood flow measures, caudate showed the greatest difference (21.5% decrease; P<.001). Quantitative neurologic indexes of disease severity correlated with both putamen measures (P<.03), while Mini-Mental State Examination scores correlated with caudate volume (P<.02). Bicaudate ratio correlated with both clinical measures and was the best index of neurologic deterioration (r=.95; P<.001), while global atrophy (measured by cerebrospinal fluid percentage) was the best correlate of several neuropsychological tests, such as the Trail Making Test (r=93; P<.001). |
2 |
| 24. Harris GJ, Pearlson GD, Peyser CE, et al. Putamen volume reduction on magnetic resonance imaging exceeds caudate changes in mild Huntington's disease. Ann Neurol. 1992;31(1):69-75. |
Experimental-Dx |
15 patients |
To measure volumes of caudate nucleus and putamen and bicaudate ratios (BCR) from magnetic resonance images, blind to diagnosis, in 15 patients with mild HD and 19 age- and sex-matched control subjects using a computerized image analysis system. |
The region showing greatest atrophy was the putamen, which was reduced 50.1% in mean volume in HD patients compared with control subjects (p less than 0.000001). In contrast, caudate volume was reduced 27.7% (p = 0.004). BCR was increased 28.5% in HD patients (p = 0.0002). Discriminant function analysis was 94% effective in identifying the diagnostic group based on putamen volume alone, whereas caudate measures had considerable overlap. Correction of putamen volume for head size led to 100% separation by group. Putamen measures and BCR correlated with neurological examination scores but caudate volume did not. |
2 |
| 25. Oliva D, Carella F, Savoiardo M, et al. Clinical and magnetic resonance features of the classic and akinetic-rigid variants of Huntington's disease. Arch Neurol. 1993;50(1):17-19. |
Review/Other-Dx |
32 patients |
To study 32 patients with confirmed Huntington's disease (HD); six (mean age, 31.7 years) had the akinetic-rigid form and 26 (mean age, 46.1 years) had the classic hyperkinetic form. |
Groups 1 and 2 together had significantly younger age at onset, lower Mini-Mental State Examination score, more severe motor disability, worse verbal fluency test result, and greater bicaudate diameter than the 19 patients with classic HD without magnetic resonance signal abnormality (group 3) and appear to be a uniform population, distinct from group 3. The abnormalities on magnetic resonance images indicated greater striatal damage in groups 1 and 2, which could be the neuroanatomic substrate of their greater motor and cognitive compromise. |
4 |
| 26. Paulsen JS, Langbehn DR, Stout JC, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry. 2008;79(8):874-880. |
Observational-Dx |
438 patients |
To use genetic, neurobiological and refined clinical markers to understand the early progression of Huntington's disease (HD), prior to the point of traditional diagnosis, in persons with a known gene mutation. Here we estimate the approximate onset and initial course of various measurable aspects of HD relative to the time of eventual diagnosis. |
Estimated time to diagnosis was related to most clinical and neuroimaging markers. The patterns of association suggested the commencement of detectable changes one to two decades prior to the predicted time of clinical diagnosis. The patterns were highly robust and consistent, despite the varied types of markers and diverse measurement methodologies. |
2 |
| 27. Rosas HD, Liu AK, Hersch S, et al. Regional and progressive thinning of the cortical ribbon in Huntington's disease. Neurology. 2002;58(5):695-701. |
Experimental-Dx |
11 patients |
To learn how Huntington's disease affects the cortex, including which cortical regions are affected, how degeneration proceeds, and the relationship of the cortical degeneration to clinical symptoms. |
Regionally specific heterogeneous thinning of the cortical ribbon was found in subjects with HD. Thinning occurred early, differed among patients in different clinical stages of disease, and appeared to proceed from posterior to anterior cortical regions with disease progression. The sensorimotor region was statistically most affected. Measurements performed on MR images of autopsy brains analyzed similarly were within 0.25 mm of those obtained using traditional neuropathologic methods and were statistically indistinguishable. |
2 |
| 28. Tabrizi SJ, Langbehn DR, Leavitt BR, et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol. 2009;8(9):791-801. |
Observational-Dx |
366 patients |
To identify sensitive and reliable biomarkers in premanifest carriers of mutated HTT and in individuals with early Huntington's disease that could provide essential methodology for the assessment of therapeutic interventions. |
The first participant was enrolled in January, 2008, and all assessments were completed by August, 2008. Cross-sectional analyses identified significant changes in whole-brain volume, regional grey and white matter differences, impairment in a range of voluntary neurophysiological motor, and oculomotor tasks, and cognitive and neuropsychiatric dysfunction in premanifest HD gene carriers with normal motor scores through to early clinical stage 2 disease. |
2 |
| 29. Kalia LV, Lang AE. Parkinson's disease. Lancet. 2015;386(9996):896-912. |
Review/Other-Dx |
N/A |
To review the complexities and challenges of Parkinson's disease. |
No results stated in abstract. |
4 |
| 30. McFarland NR. Diagnostic Approach to Atypical Parkinsonian Syndromes. Continuum (Minneap Minn). 2016;22(4 Movement Disorders):1117-1142. |
Review/Other-Dx |
N/A |
To aid the clinician in recognizing key clinical and pathologic features of atypical parkinsonian syndromes, including progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and dementia with Lewy bodies and to raise awareness of recent advances in diagnostics and treatment. |
Diagnostic criteria for atypical parkinsonian syndromes are evolving to encompass increasingly recognized heterogeneity in the presentation of these disordersand information gleamed from clinicopathologic correlations. PSP and CBD in particular now share similar pathologic clinical features and include a number ofphenotypic variants. Pathologic diagnoses are increasingly used in clinical practice, and there is frequent reference now by clinicians to tauopathies, including PSP and CBD, and the synucleinopathies, which include MSA and dementia with Lewy bodies (as well as Parkinson disease). Research into biomarkers, including both tissue and imaging modalities and genetics, has the potential to increase disease recognition and make earlier diagnosis and treatment possible. Although novel therapeutics are being studied for atypical parkinsonian syndromes such as PSP, no new breakthrough interventions have emerged for the treatment of PSP, CBD, and MSA. Current therapeutic management for these disorders frequently uses a multidisciplinary team approach. |
4 |
| 31. Walker Z, Gandolfo F, Orini S, et al. Clinical utility of FDG PET in Parkinson's disease and atypical parkinsonism associated with dementia. [Review]. European Journal of Nuclear Medicine & Molecular Imaging. 45(9):1534-1545, 2018 07. |
Review/Other-Dx |
91 studies |
To evaluate the selected studies for quality of design, risk of bias, inconsistency, imprecision, indirectness and effect size. |
Of 91 studies selected from the three literature searches, only four included an adequate quantitative assessment of the performance of FDG PET. The majority of studies lacked robust methodology due to lack of critical outcomes, inadequate gold standard and no head-to-head comparison with an appropriate reference standard. The panel recommended the use of FDG PET for all three clinical scenarios based on nonquantitative evidence of clinical utility. |
4 |
| 32. Broski SM, Hunt CH, Johnson GB, Morreale RF, Lowe VJ, Peller PJ. Structural and functional imaging in parkinsonian syndromes. Radiographics. 34(5):1273-92, 2014 Sep-Oct. |
Review/Other-Dx |
N/A |
To review the most common magnetic resonance (MR) and molecular imaging patterns of idiopathic Parkinson disease and atypical parkinsonian syndromes. |
No results stated in the abstract. |
4 |
| 33. Badoud S, Van De Ville D, Nicastro N, Garibotto V, Burkhard PR, Haller S. Discriminating among degenerative parkinsonisms using advanced (123)I-ioflupane SPECT analyses. Neuroimage Clin. 2016;12:234-240. |
Observational-Dx |
392 patients |
To to test the hypothesis that Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) have distinct patterns of dopaminergic depletion on 123I-ioflupane single photon emission computed tomography (SPECT), which may enable a clinically useful discrimination between groups. |
MSA and PSP showed less ioflupane uptake in the head of caudate nucleus relative to PD and CBD, yet there was no difference between MSA and PSP. CBD had higher uptake in both putamen relative to PD, MSA and PSP. Classification was significant for PD versus APS (AUC 0.69, p < 0.05) and between APS subtypes (MSA vs CBD AUC 0.80, p < 0.05; MSA vs PSP AUC 0.69 p < 0.05; CBD vs PSP AUC 0.69 p < 0.05). |
3 |
| 34. Brucke T, Djamshidian S, Bencsits G, Pirker W, Asenbaum S, Podreka I. SPECT and PET imaging of the dopaminergic system in Parkinson's disease. J Neurol. 2000;247 Suppl 4:IV/2-7. |
Review/Other-Dx |
N/A |
To give an overview of the clinical importance of SPECT and PET imaging of the dopaminergic system in the differential diagnosis and for the determination of the progression rate of Parkinson’s disease (PD). |
No results stated in the abstract |
4 |
| 35. Cummings JL, Fine MJ, Grachev ID, et al. Effective and efficient diagnosis of parkinsonism: the role of dopamine transporter SPECT imaging with ioflupane I-123 injection (DaTscan). Am J Manag Care. 2014;20(5 Suppl):S97-109. |
Review/Other-Dx |
N/A |
Roundtable discussion involving a multidisciplinary panel of experts with experience in movement disorders, nuclear imaging, managed care, and patient advocacy,and provides clinical criteria and algorithms to help guide managed care organizations (MCOs) and practitioners in the appropriate use of DaTscan imaging. |
No results stated in abstract |
4 |
| 36. Seifert KD, Wiener JI. The impact of DaTscan on the diagnosis and management of movement disorders: A retrospective study. Am J Neurodegener Dis. 2013;2(1):29-34. |
Observational-Dx |
124 patients |
To examine the use of the DaTscan in diagnosis, confidence in diagnosis, and clinical management of Parkinson's disease. |
There was an overall increase in confidence of diagnosis with the results of the DaTscan. Physicians also stated that the DaTscan impacted their diagnosis in 68% of the patients, as well as an impact in the clinical management of 58% of the patients. |
3 |
| 37. Tatsch K. Extrapyramidal syndromes: PET and SPECT. Neuroimaging Clin N Am. 2010;20(1):57-68. |
Review/Other-Dx |
N/A |
An overview of the current PET and SPECT applications for diagnosing Extrapyramidal syndromes and focuses on their use in clinical practice. |
No results stated in abstract. |
4 |
| 38. van Royen E, Verhoeff NF, Speelman JD, Wolters EC, Kuiper MA, Janssen AG. Multiple system atrophy and progressive supranuclear palsy. Diminished striatal D2 dopamine receptor activity demonstrated by 123I-IBZM single photon emission computed tomography. Arch Neurol. 1993;50(5):513-516. |
Observational-Dx |
21 patients and 21 controls |
To measure D2 dopamine receptors in the striatum in patients with multiple system atrophy and pro- gressive supranuclear palsy by I 3-iodo-6-methoxybenzamidelabeled with iodine I 123 (123I-IBZM) single photon emission computed tomography and differentiate them from control subjects |
A highly significant loss of striatal uptake of 123I-IBZM was observed in the patients in comparison to the control subjects with little or no overlap betweenvalues. |
3 |
| 39. Vlaar AM, van Kroonenburgh MJ, Kessels AG, Weber WE. Meta-analysis of the literature on diagnostic accuracy of SPECT in parkinsonian syndromes. BMC Neurol. 2007;7:27. |
Meta-analysis |
32 studies |
To perform a meta-analysis of all the existing literature on the diagnostic accuracy of both pre- and post-synaptic Single Photon Emission Computer Tomography (SPECT) imaging in the differential diagnosis of Parkinson's disease (PD). |
The search gave 185 hits, of which we deemed 32 suitable for our analysis. From these we recalculated the diagnostic odds ratio of SPECT for the clinical questions above. The pooled odds ratio (with 95%CI) for presynaptic SPECT scan's ability to distinguish between early PD and normalcy was 60 (13 – 277). For the ability to differentiate between PD and ET this ratio was 210 (79–562). The ratio for presynaptic SPECT's ability to delineate PD from VP was 105 (32 – 348).The mean odds ratio for the presynaptic SPECT scans to differentiate between PD and the two APS was 2 (1 – 4), and for the postsynaptic SPECT imaging this was 19 (9–36). |
Good |
| 40. Savoiardo M. Differential diagnosis of Parkinson's disease and atypical parkinsonian disorders by magnetic resonance imaging. Neurol Sci. 2003;24 Suppl 1:S35-37. |
Review/Other-Dx |
N/A |
To discuss the effiociency of MRI in demonstrating putaminal abnormalities due to loss of neurons and gliosis and accumulation of iron in the posterior lateral part of the nucleus. |
No results stated in abstract. |
4 |
| 41. Seppi K, Poewe W. Brain magnetic resonance imaging techniques in the diagnosis of parkinsonian syndromes. Neuroimaging Clin N Am. 2010;20(1):29-55. |
Review/Other-Dx |
N/A |
Discussion of static or structural conventional MRI techniques including standard T2-weighted, T1-weighted, and proton-density sequences, as well as different advanced techniques, including methods to assess regional cerebral atrophy quantitatively such as magnetic resonance volumetry, DTI and DWI, and magnetization transfer imaging, to assist in the differential diagnosis of neurodegenerative parkinsonian disorders. |
No results stated in abstract. |
4 |
| 42. Yekhlef F, Ballan G, Macia F, Delmer O, Sourgen C, Tison F. Routine MRI for the differential diagnosis of Parkinson's disease, MSA, PSP, and CBD. J Neural Transm (Vienna). 2003;110(2):151-169. |
Observational-Dx |
???? |
To assess the usefulness of routine MRI for the differential diagnosis of Parkinson's disease (PD) with "atypical" parkinsonian syndromes in everyday clinical practice. |
From a preliminary analysis of 26 items, 4 independent investigators rated 11 easily recognizable MRI pointers organized as a simple scoring system. The frequency, severity and inter-rater agreement were determined. The total severity score was subdivided into "cortical", "putaminal", "midbrain", and "pontocerebellar" scores. The frequency of putaminal involvement (100%) and vermian cerebellar atrophy (45%) was significantly higher in MSA, but that of cortical atrophy (50%), midbrain atrophy and 3(rd) ventricle enlargement (75%) was higher in PSP and CBD. The median total score fairly differentiated "atypical" parkinsonian syndromes from PD (positive predictive value-PPV-90%). However, the median total score was unable to differentiate atypical parkinsonian syndromes each other. The "cortical" score distinguished CBD and PSP from MSA with a fair PPV (>90%). The PPV of the "putaminal" score was high (70%) for the differential diagnosis of MSA with PSP and CBD. The "midbrain" score was significantly higher in PSP and CBD compared to MSA. |
2 |
| 43. Schrag A, Good CD, Miszkiel K, et al. Differentiation of atypical parkinsonian syndromes with routine MRI. Neurology. 2000;54(3):697-702. |
Observational-Dx |
54 patients - multiple system atrophy (MSA), 35 patients-progressive supranuclear palsy (PSP), 5 patients -corticobasal degeneration (CBD), 44 control |
To evaluate the use of routine MRI in differentiating between patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD) and control subjects. |
More than 70% of patients with PSP and more than 80% of patients with cerebellar predominant MSA could be classified correctly with 0.5-T or 1.5-T scans, and no patient in these groups was misclassified. In the remaining patients an unequivocal differentiation could not be made. However, only approximately 50% of patients with parkinsonism-predominant MSA could be classified correctly, and 19% of them (all of whom had had 0.5-T scans) were misclassified. |
2 |
| 44. Suchowersky O, Reich S, Perlmutter J, Zesiewicz T, Gronseth G, Weiner WJ. Practice Parameter: diagnosis and prognosis of new onset Parkinson disease (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2006;66(7):968-975. |
Review/Other-Dx |
N/A |
To define key issues in the diagnosis of PD, to define features influencing progression, and to make evidence-based recommendations. |
Early falls, poor response to levodopa, symmetry of motor manifestations, lack of tremor, and early autonomic dysfunction are probably useful in distinguishing other parkinsonian syndromes from PD. Levodopa or apomorphine challenge and olfactory testing are probably useful in distinguishing PD from other parkinsonian syndromes. Predictive factors for more rapid motor progression, nursing home placement, and shorter survival time include older age at onset of PD, associated comorbidities, presentation with rigidity and bradykinesia, and decreased dopamine responsiveness. Future research into methods for earlier and more accurate diagnosis of the disease and identification and clarification of predictive factors of rapid disease progression is warranted. |
4 |
| 45. Schwarz ST, Afzal M, Morgan PS, Bajaj N, Gowland PA, Auer DP. The 'swallow tail' appearance of the healthy nigrosome - a new accurate test of Parkinson's disease: a case-control and retrospective cross-sectional MRI study at 3T. PLoS ONE. 9(4):e93814, 2014. |
Observational-Dx |
104 patients |
To investigate the feasibility of nigrosome-1 detection using 3T - susceptibility-weighted (SWI) MRI and the diagnostic accuracy that can be achieved for diagnosing PD in a clinical population. |
14 high-resolution 3T - SWI-scans were reviewed consisting of a prospective case-control study in 19 subjects (10 PD, 9 controls) and a retrospective cross-sectional study in 95 consecutive patients undergoing routine clinical SWI-scans (>50 years, 9 PD, 81 non-PD, 5 non-diagnostic studies excluded). Two raters independently classified subjects into PD and non-PD according to absence or presence of nigrosome-1, followed by consensus reading. Diagnostic accuracy was assessed against clinical diagnosis as gold standard. Absolute inter- and intra-rater agreement was =94% (kappa=0.82, p<0.001). In the prospective study 8/9 control and 8/10 PD; and in the retrospective study 77/81 non-PD and all 9 PD subjects were correctly classified. Diagnostic accuracy of the retrospective cohort was: sensitivity 100%, specificity 95%, NPV 1, PPV 0.69 and accuracy 96% which dropped to 91% when including non-diagnostic scans ('intent to diagnose'). The healthy nigrosome-1 can be readily depicted on high-resolution 3T - SWI giving rise to a 'swallow tail' appearance of the dorsolateral substantia nigra, and this feature is lost in PD. Visual radiological assessment yielded a high diagnostic accuracy for PD vs. an unselected clinical control population. Assessing the substantia nigra on SWI for the typical 'swallow tail' appearance has potential to become a new and easy applicable 3T MRI diagnostic tool for nigral degeneration in PD. |
2 |
| 46. Brodsky M, Lahna D, Pollock J, Pettersson D, Grinstead J, Rooney W. Nigrosome 1 absence in de novo Parkinson disease. Neurology. 90(11):522-523, 2018 Mar 13. |
Review/Other-Dx |
2 patients |
To determine the omparative brain MRIs of an individual with de novo Parkinson disease and an age-matched control. |
No results stated in the abstract. |
4 |
| 47. Bhattacharya K, Saadia D, Eisenkraft B, et al. Brain magnetic resonance imaging in multiple-system atrophy and Parkinson disease: a diagnostic algorithm. Arch Neurol. 2002;59(5):835-842. |
Observational-Dx |
39 patients |
To determine concordance between clinical and MR imaging-based diagnoses of multiple system atrophy with predominant parkinsonism (MSA-P) and Parkinson Disease (PD). |
All patients with MSA and 14 (67%) of 21 patients with PD had some abnormality on brain MR imaging. Brainstem atrophy was seen in patients with MSA-P and MSA-C. Putaminal atrophy was seen only in MSA-P. Putaminal hypointensity and lateral slitlike hyperintensity were seen in both PD and MSA-P but were always mild in PD. Cerebellar abnormalities, seen in all patients with MSA-C and 11 patients with MSA-P, were also identified in 6 patients with PD, albeit always rated as mild. Nonconcordance between clinical and radiological diagnosis occurred in 2 patients with PD, 5 with MSA-P, and 1 with MSA-C. |
2 |
| 48. Schrag A, Kingsley D, Phatouros C, et al. Clinical usefulness of magnetic resonance imaging in multiple system atrophy. J Neurol Neurosurg Psychiatry. 1998;65(1):65-71. |
Observational-Dx |
44 patients with multiple system atrophy, 47 patients with idiopathic Parkinson’s
disease, and 45 controls |
To determine the sensitivity, specificity, and positive predictive values of a selection of abnormal findings in the putamen and infratentorial structures onroutine magnetic resonance imaging for distinguishing between multiple system atrophy, idiopathic Parkinson’s disease, and age matched controls. |
On both 0.5 and 1.5 T scans the following items had high specificity but low sensitivity: putaminal atrophy, a hyperintense putaminal rim, and infratentorialsignal change. Finding any infratentorial abnormality gave higher sensitivity but lower specificity. Putaminal isointensity or hypointensity relative to globus pallidus, absolute putaminal hypointensity, and altered size of the olives were not useful discriminators. The overall sensitivity was 73% on 0.5 T and 88% on 1.5 T scans. The specificities of these findings for multiple system atrophy in comparison to idiopathic Parkinson’s disease and controls on 0.5 T were 95% and 100% respectively, and on 1.5 T were 93% and 91% respectively. Finding any of the described abnormalities on MRI gave a positive predictive value of 93% onthe 0.5 T machine, and 85% on the 1.5 T scanner. |
2 |
| 49. Schulz JB, Klockgether T, Petersen D, et al. Multiple system atrophy: natural history, MRI morphology, and dopamine receptor imaging with 123IBZM-SPECT. J Neurol Neurosurg Psychiatry. 1994;57(9):1047-1056. |
Observational-Dx |
32 patients |
1. To study the natural history and prognosis of multiple system atrophy (MSA) and to compare those with prominent cerebellar ataxia MSA-C and those with prominent parkinsonism MSA-P.2. To study the abnormalities detected by MRI and 123I-iodobenzamide single photon emission computed tomography (IBZMSPECT) in patients with MSA. |
Autonomic symptoms were present in all patients and preceded the onset of motor symptoms in 63% of patients. Calculated median lifetime and the median time to become wheelchair bound after onset of disease were significantly shorter for MSA-P than for MSA-C (lifetime: 4 0 v 9-1 years; wheelchair: 3-1 v 5'0 years) suggesting a better prognosis for cerebellar patients. A significant loss of striatal dopamine receptors (below 2 SD threshold) was detected by IBZM-SPECT in63% of the patients (56% below 2.5 SD threshold). There was no difference between patients with MSA-C and those with MSA-P in the proportion with significantreceptor loss and the extent of dopamine receptor loss. Planimetric MRI evaluation showed cerebellar and brainstem atrophy in both groups. Atrophy was more pronounced in patients with MSA-C than in those with MSA-P. Pontocerebeliar hyperintensities and putaminal hypointensities on T2 weighted MRI were found in both groups. Pontocerebellar signal abnormalities were more pronounced in MSA-C than in MSA-P, whereas the rating scores for area but not for intensity of putaminal abnormalities were higher in MSA-P. MRI and IBZM-SPECT provide in vivo evidence for combined basal ganglia and pontocerebellar involvement in almost all patients in this series. |
3 |
| 50. Seppi K, Schocke MF, Wenning GK, Poewe W. How to diagnose MSA early: the role of magnetic resonance imaging. J Neural Transm (Vienna). 2005;112(12):1625-1634. |
Review/Other-Dx |
N/A |
To review the role of different magnetic resonance imaging (MRI) techniques in the differential diagnosis of Parkinson’s disease (PD) and multiple system atrophy (MSA). |
No results stated in abstract |
4 |
| 51. Horimoto Y, Aiba I, Yasuda T, et al. Longitudinal MRI study of multiple system atrophy - when do the findings appear, and what is the course? J Neurol. 2002;249(7):847-854. |
Observational-Dx |
42 patients |
1. To determine the exact time when two main features of pontine and putaminal intensity changes appeared.2. To investigate the course of MRI findings and differences between clinical subtypes. |
Patients were classified as 16 MSA-C, 7 autonomic dominant type (MSA-A), and 19 MSA-P. The age at onset ranged from 41 to 74 years (mean, 55±9). The duration of the disease in the MRI study ranged from 1 to 24 years. The pontine “cross sign” was completed (shows Cross, stage IV) earlier in MSA-C mainly before 5 years, later in MSA-P and even much later in MSA-A. Regarding the “putaminal slit”,MSA-P shows earlier bilateral changes (stage II), mostly before 3 years, compared with MSA-C,which requires 4 years to reveal even a unilateral change (stage I), or MSA-A which requires even more time. MRI findingsshowed a tendency to relate to clinical findings, since MSA-C exhibits “cross sign” completion earlier than bilateral “putaminal slit”; however,MSA-P shows bilateral “putaminal slit” earlier than “cross sign”, and MSA-A requires much more time to show both. Clinically, MSA-C,MSA-A, or MSA-P showeddifferent MRI courses so that three subtypes could be defined also with MRI findings. |
3 |
| 52. Watanabe H, Saito Y, Terao S, et al. Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients. Brain. 2002;125(Pt 5):1070-1083. |
Observational-Dx |
230 patients |
To investigate the initial clinical manifestation of multiple system atrophy (MSA) and subsequent evolution and outcome in 230 Japanese patients with probable or definite disease. |
Cerebellar dysfunction (multiple system atrophy-cerebellar; MSA-C) predominated in 155 patients, and parkinsonism (multiple system atrophy-parkinsonian; MSA-P) in 75. The median time from initial symptom to combined motor and autonomic dysfunction was 2 years (range 1-10). Median intervals from onset to aid-requiring walking, confinement to a wheelchair, a bedridden state and death were 3, 5, 8 and 9 years, respectively. Patients manifesting combined motor and autonomic involvement within 3 years of onset had a significantly increased risk of not only developing advanced disease stage but also shorter survival (P < 0.01). MSA-P patients had more rapid functional deterioration than MSA-C patients (aid-requiring walking, P = 0.03; confinement to a wheelchair, P < 0.01; bedridden state, P < 0.01), but showed similar survival. Onset in older individuals showed increased risk of confinement to a wheelchair (P < 0.05), bedridden state (P = 0.03) and death (P < 0.01). Patients initially complaining of motor symptoms had accelerated risk of aid-requiring walking (P < 0.01) and confinement to a wheelchair (P < 0.01) compared with those initially complaining of autonomic symptoms, while the time until confinement to a bedridden state and survival were no worse. Gender was not associated with differences in worsening of function or survival. On MRI, a hyperintense rim at the lateral edge of the dorsolateral putamen was seen in 34.5% of cases, and a 'hot cross bun' sign in the pontine basis (PB) in 63.3%. These putaminal and pontine abnormalities became more prominent as MSA-P and MSA-C features advanced. The atrophy of the cerebellar vermis and PB showed a significant correlation particularly with the interval following the appearance of cerebellar symptoms in MSA-C (r = 0.71, P < 0.01, r = 0.76 and P < 0.01, respectively), but the relationship between atrophy and functional status was highly variable among the individuals, suggesting that other factors influenced the functional deterioration. Atrophy of the corpus callosum was seen in a subpopulation of MSA, suggesting hemispheric involvement in a subgroup of MSA patients. |
3 |
| 53. Ito S, Shirai W, Hattori T. Evaluating posterolateral linearization of the putaminal margin with magnetic resonance imaging to diagnose the Parkinson variant of multiple system atrophy. Mov Disord. 2007;22(4):578-581. |
Observational-Dx |
99 patients |
To develop a simple method for evaluating putaminal atrophy in patients with the Parkinson variant of multiple system atrophy (MSA-P) |
There was a negative correlation between the linearization scores and adjusted putaminal areas (r=-0.43, P < 0.001), such that the mean adjusted putaminal area in the group without putaminal linearization (0.0148 +- 0.0022) was greater than that of the group with linearization (0.0124 +- 0.0029, P < 0.005). Moreover, the occurrence of putaminal linearization was significantly higher in MSA-P patients (88.8%) than in MSA-C (8.3%), PD (7.9%) and healthy subjects (7.4%; P <0.005). Putaminal linearization was a highly sensitive (0.89) and specific (0.91) measure for differentiating MSA-P. |
2 |
| 54. Kraft E, Schwarz J, Trenkwalder C, Vogl T, Pfluger T, Oertel WH. The combination of hypointense and hyperintense signal changes on T2-weighted magnetic resonance imaging sequences: a specific marker of multiple system atrophy? Arch Neurol. 1999;56(2):225-228. |
Observational-Dx |
90 patients |
To compare the frequency and specificity of hypointense magnetic resonance imaging (MRI) signal changes alone with the frequency and specificity of a pathological MRI pattern consisting of a hyperintense lateral rim and dorsolateral signal attenuation on T2- weighted MRIs in patients with parkinsonism of various origins. |
Nine of the 15 patients with MSA showed the pattern with hyperintense lateral rim and a dorsolateral hypointense signal attenuation on T2-weighted images within the putamen. This pattern was not found in the 65 patients with PD, nor in the 10 patientswith PSP. Only hypointense changes in the putamen were found in 6 patients (9%) with PD, 4 patients (40%) with PSP, and 5 patients(36%) with MSA. |
2 |
| 55. Righini A, Antonini A, Ferrarini M, et al. Thin section MR study of the basal ganglia in the differential diagnosis between striatonigral degeneration and Parkinson disease. J Comput Assist Tomogr. 2002;26(2):266-271. |
Observational-Dx |
24 patients with MSA-P and 27 patients with PD |
To evaluate the specificity and sensitivity of an acquisition protocol using thin section MRI to differentiate multiple system atrophy (MSA-P) from Parkinsondisease (PD). |
We found an abnormal putaminal T2 hypointensity in 21 of 24 MSA-P patients (87.5% sensitivity) and a proton density hyperintensity in 20 of 24 MSA-Ppatients (83.3% sensitivity). Three among 27 PD patients had an abnormal putaminal T2 hypointensity (88.8% specificity) and there were no proton density abnormalities (100% specificity) |
2 |
| 56. Watanabe H, Ito M, Fukatsu H, et al. Putaminal magnetic resonance imaging features at various magnetic field strengths in multiple system atrophy. Mov Disord. 2010;25(12):1916-1923. |
Observational-Dx |
75 patients |
To clarify the effects of field strength at 0.35T, 1.5T, and 3.0T on brain MRI signal characteristics in patients with multiple system atrophy (MSA) and Parkinson’s disease (PD). |
Moderate or marked hyperintensity at the dorsolateral outer putaminal margin, hyperintensity of the putaminal body, hypointensity relative to the globus pallidus at the dorsolateral putaminal margin, and infratentorial signal changes were evaluated as specific findings for MSA. As the field strength increased, the occurrence of hyperintensity both at the dorsolateral outer putaminal margin and of the putaminal body decreased, while the occurrence of hypointensity at the dorsolateral putaminal margin increased in MSA. The occurrence of uniform mild hyperintensity of the outer putaminal margin was evident in 7% at 0.35T, 40% at 1.5T, and 47% at 3.0T in MSA and in 5% at 0.35T, 60% at 1.5T, and 75% at 3.0T in PD. However, no PD patients showed hyperintensity at the dorsolateral outer putaminal margin and that of the putaminal body. Putaminal magnetic resonance imaging (MRI) findings in MSA were altered considerably by magnetic field strength. The severity and distribution of signal changes are important for assessing putaminal MRI findings in MSA |
1 |
| 57. Koyama M, Yagishita A, Nakata Y, Hayashi M, Bandoh M, Mizutani T. Imaging of corticobasal degeneration syndrome. Neuroradiology. 2007;49(11):905-912. |
Observational-Dx |
16 patients |
To clarify the imaging findings of corticobasal degeneration syndrome (CBDS). |
All the patients had cerebral atrophy. Asymmetric cerebral atrophy was observed in 13 patients (81%) predominantly contralateral to the side clinically moreaffected. Atrophy in the cerebral peduncle was observed in seven patients. FLAIR images showed hyperintensity in the subcortical white matter in the frontoparietal lobes in the clinically more affected side in 14 patients, and in the rolandic region in 13 patients. Asymmetric hypoperfusion in the frontoparietal lobes on SPECT images was observed in all of the patients, and in the basal ganglia in 11 patients. |
3 |
| 58. Taki M, Ishii K, Fukuda T, Kojima Y, Mori E. Evaluation of cortical atrophy between progressive supranuclear palsy and corticobasal degeneration by hemispheric surface display of MR images. AJNR Am J Neuroradiol. 2004;25(10):1709-1714. |
Observational-Dx |
19 patients with PSP and 19 with CBD |
To determine the features of cortical atrophy in progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) by means of a hemispheric surface display generated with MR images |
Most cortical regions were less atrophic in PSP than in CBD. The parietal lobe, paracentral regions, anterior middle frontal lobe, and posterior inferior frontal lobe were significantly more atrophic in CBD than in PSP, whereas the brainstem was significantly more atrophic in PSP. The mean hemisphere-to-intracranial volume ratio was significantly greater in patients with PSP (74.5%) than in those with CBD (71.4%), whereas the mean brainstem-tointracranial volume ratio was significantly smaller in PSP (1.4%) than in CBD (1.6%). Asymmetry of hemispheric volume was significantly larger in the CBD group than in the PSP group. |
2 |
| 59. Tokumaru AM, O'Uchi T, Kuru Y, Maki T, Murayama S, Horichi Y. Corticobasal degeneration: MR with histopathologic comparison. AJNR Am J Neuroradiol. 1996;17(10):1849-1852. |
Review/Other-Dx |
3 case reports |
To illustrate the MR findings of corticobasal degeneration and to compare those findings with pathologic specimens. |
No results stated in abstract |
4 |
| 60. Tokumaru AM, Saito Y, Murayama S, et al. Imaging-pathologic correlation in corticobasal degeneration. AJNR Am J Neuroradiol. 2009;30(10):1884-1892. |
Review/Other-Dx |
4 patients with CBD and 13 patients with neuropathologically
confirmed PSP |
To compare the imaging findings in corticobasal degeneration (CBD) with neuropathologically confirmed progressive supranuclear palsy (PSP) for a differential diagnosis. |
On MR imaging, 3 patients had asymmetric cerebral atrophy extending to the central sulcus. On midsagittal sections, the mean midbrain tegmentum area was 66 mm2, being markedly smaller than normal, but there was no significant difference between PSP and CBD. All patients had signal intensity abnormalities of the SCWM, constituting primary degeneration neuropathologically; however, no diffuse signal-intensity abnormality in the SCWM existed in the 13 patients with PSP. In 3 patients, T1-weighted images showed symmetric high signal intensity in the subthalamic nuclei. Neuropathologically, these areas showed characteristic CBD. MR imaging signal-intensity changes also existed in 4 patients with PSP; however, subthalamic nucleus degeneration was more severe in PSP than in CBD. |
4 |
| 61. Kato N, Arai K, Hattori T. Study of the rostral midbrain atrophy in progressive supranuclear palsy. J Neurol Sci. 2003;210(1-2):57-60. |
Observational-Dx |
8 patients with PSP, 12 with Parkinson disease and 10 normal controls |
To evaluate MR images of the brains of eight patients with Progressive supranuclear palsy (PSP), focussing on the characteristics of the region containing the hummingbird sign. |
The hummingbird sign was demonstrated in all of the PSP patients studied, and it was not observed in PD patients nor in normal controls. The hummingbird sign in the PSP patients was due to the atrophy of the midbrain tegmentum (rostral and caudal) and to a relative increase in the length of the interpeduncular fossa over that of the anteroposterior diameter of the midbrain tegmentum. |
3 |
| 62. Oba H, Yagishita A, Terada H, et al. New and reliable MRI diagnosis for progressive supranuclear palsy. Neurology. 2005;64(12):2050-2055. |
Observational-Dx |
21 patients with PSP, 23 patients with PD, 25 patients with MSA-P, and 31 age-matched normal control subjects |
To evaluate the area of the midbrain and pons on mid-sagittal MRI in patients with progressive supranuclear palsy (PSP), Parkinson disease (PD), and multiple-system atrophy of the Parkinson type (MSA-P), compare these appearances and values with those of normal control subjects, and establish diagnostic MRI criteria for the diagnosis of PSP. |
The average midbrain area of the patients with PSP (56.0mm2) was significantly smaller than that of the patients with PD (103.0 mm2) and MSA-P (97.2 mm2) and that of theage-matched control group (117.7 mm2). The values of the area of the midbrain showed no overlap between patients withPSP and patients with PD or normal control subjects. However, patients with MSA-P showed some overlap of the values ofindividual areas with values from patients with PSP. The ratio of the area of the midbrain to the area of pons in thepatients with PSP (0.124) was significantly smaller than that in those with PD (0.208) and MSA-P (0.266) and in normalcontrol subjects (0.237). Use of the ratio allowed differentiation between the PSP group and the MSA-P group. |
3 |
| 63. Paviour DC, Price SL, Stevens JM, Lees AJ, Fox NC. Quantitative MRI measurement of superior cerebellar peduncle in progressive supranuclear palsy. Neurology. 2005;64(4):675-679. |
Observational-Dx |
53 subjects: 19 with PSP, 10 with multiple system atrophy (MSA), 12 with Parkinson disease (PD), and 12 healthy
controls. |
To test the hypothesis that MRI measurements of the superior cerebellar peduncle (SCP) may help in diagnosis of Progressive supranuclear palsy (PSP) during life. |
The mean SCP volume, corrected for total intracranial volume, was lower in patients withPSP than controls (p < 0.001), patients with MSA (p = 0.001), and patients with PD (p = 0.003). There was an overlapbetween individual SCP volume measurements in the PSP subjects and the other groups. Neuroradiologic rating correctlyidentified PSP cases based on the presence of SCP atrophy with a sensitivity of 74% and a specificity of 94%. |
2 |
| 64. Righini A, Antonini A, De Notaris R, et al. MR imaging of the superior profile of the midbrain: differential diagnosis between progressive supranuclear palsy and Parkinson disease. AJNR Am J Neuroradiol. 2004;25(6):927-932. |
Observational-Dx |
25 patients with PSP and 27 with PD |
To determine whether an abnormal superior midbrain profile (flat or concave aspect) is a more practical diagnostic parameter for PSP. |
The finding of an abnormal superior profile of the midbrain had 68% sensitivity and 88.8% specificity. Midbrain atrophy had 68% sensitivity and 77.7% specificity. Tegmental T2 hyperintensity had 100% specificity but poor sensitivity (28%). Only 14.8% of patients with PD and 24% of those with PSP had abnormal putaminal T2 hypointensity; none had proton-density hyperintensity. With PSP, the average midbrain diameter was smaller than that with PD, but an important overlap was observed. Reader discordance was lower for the midbrain superior profile sign (eight of 52 cases); this was similar for tegmental hyperintensity (nine of 52 cases) and higher for midbrain atrophy (16 of 52 cases). |
3 |
| 65. Savoiardo M, Girotti F, Strada L, Ciceri E. Magnetic resonance imaging in progressive supranuclear palsy and other parkinsonian disorders. J Neural Transm Suppl. 1994;42:93-110. |
Review/Other-Dx |
N/A |
To discuss the MRI findings of progressive supranuclear palsy and other parkinsonian disorders, mainly of multiple system atrophies. |
No results stated in abstract. |
4 |
| 66. Cosottini M, Frosini D, Pesaresi I, et al. MR imaging of the substantia nigra at 7 T enables diagnosis of Parkinson disease. Radiology. 2014;271(3):831-838. |
Experimental-Dx |
13 patients |
To evaluate the anatomy of the substantia nigra (SN) in healthy subjects by performing 7-T magnetic resonance (MR) imaging of the SN, and to prospectively define the accuracy of 7-T MR imaging in distinguishing Parkinson disease (PD) patients from healthy subjects on an individual basis. |
Three-dimensional multiecho susceptibility-weighted 7-T MR imaging reveals a three-layered organization of the SN allowing readers to distinguish pars compacta ventralis and dorsalis from pars reticulata. The abnormal architecture of the SN allowed a discrimination between PD patients and healthy subjects with sensitivity and specificity of 100% and 96.2% (range, 92.3%-100%), respectively. Intraobserver agreement (? = 1) and interobserver agreement (? = 0.932) were excellent. |
2 |
| 67. Anik Y, Iseri P, Demirci A, Komsuoglu S, Inan N. Magnetization transfer ratio in early period of Parkinson disease. Acad Radiol. 2007;14(2):189-192. |
Experimental-Dx |
33 patients |
To determine the role of magnetization transfer ratio (MTR) in the early period of Parkinson disease (PD). |
Most prominent decrease of MTR was found in SNPC (p < 0.001). A significant decrease of MTR was also found in the SNPR (p = 0.006), red nucleus (p = 0.037), and pons (p = 0.046). The other regions lack significance. |
2 |
| 68. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015;8(1):1-13. |
Review/Other-Dx |
N/A |
To describe the clinical presentations, imaging findings, pathologic features, and treatment considerations for Neurodegeneration with brain iron accumulation (NBIA) group of disorders. |
No results stated in abstract |
4 |
| 69. Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 2006;27(6):1230-1233. |
Review/Other-Dx |
49; 29 with PANK2 mutations |
To investigate correlations between brain MRI changes, mutation status, and clinical disease features of patients with a clinical diagnosis of neurodegeneration with brain iron accumulation. |
MRI signal intensity abnormalities in the globus pallidus can distinguish patients with mutations in PANK2 from those lacking a mutation, even in the early stages of disease. |
4 |
| 70. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):33-40. |
Review/Other-Dx |
123 patients with a diagnosis of Hallervorden-Spatz syndrome |
To compare the clinical and radiographic features of patients with Hallervorden-Spatz syndrome with and without mutations in PANK2. |
MRI abnormalities outside the globus pallidus, including cerebral or cerebellar atrophy, were more common and more severe in mutation-negative patients. No specific MRI changes could be distinguished among the mutation-negative patients.PANK2 mutations are associated with all cases of classic Hallervorden-Spatz syndrome and one third of cases of atypical disease. A specific MRI pattern distinguishes patients with PANK2 mutations. |
4 |
| 71. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012;33(3):407-414. |
Review/Other-Dx |
N/A |
To outline the known subtypes of neurodegeneration with brain iron accumulation, delineate their clinical and radiographic features and suggest an algorithm for evaluation. |
Neurodegeneration with brain iron accumulation characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. The diagnosis of neurodegeneration with brain iron accumulation is made on the basis of the combination of representative clinical features along with MRI evidence of iron accumulation. |
4 |
| 72. McNeill A, Birchall D, Hayflick SJ, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 2008;70(18):1614-1619. |
Review/Other-Dx |
MRI from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy
(21 cases), INAD (four cases), and aceruloplasminemia (10 cases) |
To define the radiologic features of each Neurodegeneration with brain iron accumulation (NBIA) subtype. |
In most cases of PKAN, abnormalities were restricted to globus pallidus and substantia nigra, with 100% having an eye of the tiger sign. In a minority of PKAN cases there was hypointensity of the dentate nuclei (1/5 on T2* sequences, 2/26 on fast spin echo [FSE]). In INAD, globus pallidus and substantia nigra were involved on T2* and FSE scans, with dentate involvement only seen on T2*. By contrast, neuroferritinopathy had consistent involvement of the dentate nuclei,globus pallidus, and putamen, with confluent areas of hyperintensity due to probable cavitation, involving the pallida and putamen in 52%, and a subset having lesions in caudate nuclei and thalami. More uniform involvement of all basal ganglia and the thalami was typical in aceruloplasminemia, but without cavitation. |
4 |
| 73. Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics. 2005;36(3):221-222. |
Review/Other-Dx |
1 case report |
To demonstrate the eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz Syndrome. |
No results stated in abstract |
4 |
| 74. Awasthi R, Gupta RK, Trivedi R, Singh JK, Paliwal VK, Rathore RK. Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings. AJNR Am J Neuroradiol. 2010;31(3):442-447. |
Observational-Dx |
7 patients with PKAN, 5 of their siblings and 5 age-matched healthy controls |
To compare diffusion tensor imaging (DTI) metrics in deep gray matter of patients with pantothenate kinase-associated neurodegeneration (PKAN) and their siblings with age-matched healthy controls and to see whether these changes indicate abnormal iron metabolism, especially in siblings of patients with PKAN. |
A significant increase in FA values of the GP and SN from controls to the patient group to siblings was observed. In the GP, MD values were significantly higher in patients compared with controls and siblings. The patients showed significantly increased FA with decreased MD in hypointense compared with hyperintense regions of the eye-of-the-tiger sign. No difference in FA values were observed between the ALIC and hypointense regions of the eye-of-the-tiger sign in patients. |
2 |
| 75. Kiernan MC, Vucic S, Cheah BC, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377(9769):942-955. |
Review/Other-Dx |
N/A |
To focus on what is known about Amyotrophic lateral sclerosis (ALS) and where research is heading—from the small steps of extending longevity, improving therapies, undertaking clinical trials, and compiling population registries to the overarching goals of establishing the measures that guard against onset and finding the triggers for this neurodegenerative disorder. |
No results stated in abstract |
4 |
| 76. Andersen PM, Borasio GD, Dengler R, et al. EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. Eur J Neurol. 2005;12(12):921-938. |
Review/Other-Dx |
N/A |
To establish evidence-based and patient and carer centered guidelines, with secondary aims of identifying areas where further research is needed in regard to the diagnosis and clinical management of patients with amyotrophic lateral sclerosis (ALS). |
No results stated in abstract |
4 |
| 77. Abe K, Fujimura H, Kobayashi Y, Fujita N, Yanagihara T. Degeneration of the pyramidal tracts in patients with amyotrophic lateral sclerosis. A premortem and postmortem magnetic resonance imaging study. J Neuroimaging. 1997;7(4):208-212. |
Observational-Dx |
80 patients with amyotrophic lateral sclerosis (ALS) and 80 sex- and age-matched normal control subjects |
To investigate focal hyperintensity in the internal capsule (1C) on magnetic resonance images (MRIs) and its clinical significance |
On T2- weighted images, hyperintense foci were found in the posterior part of the posterior limb (PL) of the 1C in 41 (51 %) of 80 control subjects. However, no subject showed increased signal intensities on proton density-weighted images. Hyperintense foci were also observed in the posterior part of the PL of the IC on T2-weighted images in 52 (65%) of 80 ALS patients and on proton density-weighted images in 26 (65%) of 40 ALS patients; the abnormally intense foci were seen at the same anatomical location in the IC as those in the normal control subjects. On postmortem MRI, the abnormally intense foci were found in the posterior part of the PL of the IC in the formalin- fixed brains from 9 ALS patients. Three normal control subjects did not show signal intensity changes on postmortem MRI. On histological examination of 9 ALS brains, distinct myelin pallor and gliosis were found in the posterior third of the PL of the IC. |
3 |
| 78. Cheung G, Gawel MJ, Cooper PW, Farb RI, Ang LC, Gawal MJ. Amyotrophic lateral sclerosis: correlation of clinical and MR imaging findings. Radiology. 1995;194(1):263-270. |
Observational-Dx |
17 patients with ALS (14 men and three women)
and 17 age-matched control subjects. |
To determine the magnetic resonance (MR) imaging characteristics of amyotrophic lateral sclerosis (ALS) and to evaluate possible correlations between the disease severity and the MR imaging findings. |
Patients with ALS demonstrated sharp, well-defined, round, symmetric lesions that were hyperintense to gray matter within the CST. The lesions were best seen at the level of the middle or lower internal capsule on T2-weighted images. Visualization of the CST on protondensity- weighted images (which occumred in eight ALS patients) is the most reliable MR finding. Low signal intensity was identified within the motor cortex in six patients. Positive MR findings correlated with average or rapid progression of the disease. |
2 |
| 79. Goodin DS, Rowley HA, Olney RK. Magnetic resonance imaging in amyotrophic lateral sclerosis. Ann Neurol. 1988;23(4):418-420. |
Review/Other-Dx |
5 patients |
To determine the frequency of central white matter abnormalities in patients with clinically definite amyotropic lateral sclerosis. |
Two patients had symmetrical areas of increased signal intensity seen on MRI extending from the cortex, through the corona radiata, posterior limb ofthe internal capsule, and cerebral peduncles into the pons. |
4 |
| 80. Hecht MJ, Fellner F, Fellner C, Hilz MJ, Heuss D, Neundorfer B. MRI-FLAIR images of the head show corticospinal tract alterations in ALS patients more frequently than T2-, T1- and proton-density-weighted images. J Neurol Sci. 2001;186(1-2):37-44. |
Observational-Dx |
31 patients with sporadic ALS and 33 controls |
To study the frequency and the extent of abnormal signals along the corticospinal tract and the precentral cortex in Fluid-attenuated inversion recovery (FLAIR) MR images of amyotrophic lateral sclerosis (ALS) patients and controls, in order to compare the FLAIR images to T1-, T2- and proton-density-weighted MR images and to compare the MRI findings with clinical data from the ALS patients. |
Hyperintense signals at the corticospinal tract were significantly more frequent in FLAIR images than in all other tested sequences. In FLAIR images of ALS patients only, distinct hyperintense signals at the subcortical precentral gyrus (five patients), the centrum semiovale (eight patients), the crus cerebri (nine patients)and the pons (four patients) as well as mild hyperintense signals in the medulla oblongata (three patients) were seen. More frequently, but not exclusively in ALS patients, FLAIR images showed mild hyperintense signals at the subcortical precentral gyrus (15 patients vs. 1 control). Quantitative analysis confirmed the significant difference between ALS patients and controls at the subcortical precentral gyrus in FLAIR images. In T1-weighted images, the corticospinal tract at thecapsula interna was hypointense in significantly more controls than ALS patients. Also this difference was confirmed in the quantitative analysis. Similar to previous results, MR image alterations did correlate poorly to clinical data of upper motor neuron affliction. |
2 |
| 81. Hecht MJ, Fellner F, Fellner C, Hilz MJ, Neundorfer B, Heuss D. Hyperintense and hypointense MRI signals of the precentral gyrus and corticospinal tract in ALS: a follow-up examination including FLAIR images. J Neurol Sci. 2002;199(1-2):59-65. |
Observational-Dx |
17 ALS patients |
A follow-up study to qualitatively as well as quantitatively investigate the time course of hyperintense fluid attenuated inversion recovery (FLAIR) signals in amyotrophic lateral sclerosis (ALS) patients. |
In 17 ALS patients, we evaluated hyperintense signals in T2-, T1-, proton density-weighted and FLAIR MR images, and hypointense signals inT2-weighted and FLAIR images 15.7F3.0 months after the initial examination by visual scoring. In FLAIR images, a quantitative analysiswas added. The visual scores of hyperintense signals along the corticospinal tract did not change significantly in all sequences. However, thequantitative evaluation of FLAIR images revealed a significant increase of the signal intensity at the subcortical precentral gyrus ( p < 0.005).In addition, the frequency of the visually evaluated hypointense signals at the precentral gyrus increased significantly ( p < 0.05). The changeof MR results did not correlate with the change of clinical parameters. |
2 |
| 82. Costagli M, Donatelli G, Biagi L, et al. Magnetic susceptibility in the deep layers of the primary motor cortex in Amyotrophic Lateral Sclerosis. Neuroimage Clin. 2016;12:965-969. |
Observational-Dx |
17 ALS patients and 13 healthy controls |
To use 3D-GRE acquisitions at 7 T for QSM at high spatial resolution to demonstrate, in vivo, that the T2* hypointensity in ALS corresponds to an increase in iron concentration and to assess whether magnetic susceptibility (?) correlates with clinical scores of motor neuron impairment. |
Measures of magnetic susceptibility correlatedwith the expected concentration of non-heme iron in different regions of the cerebral cortex in healthy subjects. In ALS patients, significant increases in magnetic susceptibility co-localized with the T2* hypointensity observed in the middle and deep layers ofM1. Themagnetic susceptibility, hence iron concentration, of the deep cortical layers of patients'M1 subregions corresponding to Penfield's areas of the hand and foot in both hemispheres significantly correlated with the clinical scores of UMN impairment of the corresponding limbs. QSM therefore reflects the presence of iron deposits related to neuroinflammatory reaction and cortical microgliosis, and might prove useful in estimating M1iron concentration, as a possible radiological sign of severe UMN burden in ALS patients. |
2 |
| 83. Kwan JY, Jeong SY, Van Gelderen P, et al. Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology. PLoS One. 2012;7(4):e35241. |
Observational-Dx |
Nineteen patients with clinically probable or definite ALS and 19 healthy controls |
To better understand the anatomical basis of the MR signal changes in the motor cortex in ALS patients through correlation of pathology to high-field MR images, and to determine whether hypointensity in the motor cortex on the T2-weighted FLAIR MR images can be used as a marker for degeneration of upper motor neurons. |
The motor cortex hypointensity on 3T FLAIR images was present in greater frequency in ALS patients. Increased hypointensity correlated with greater severity ofupper motor neuron impairment. Analysis of 7T T2 *-weighted gradient echo imaging localized the signal alteration to the deeper layers of the motor cortex in both ALS patients. Pathological studies showed increased iron accumulation in microglial cells in areas corresponding to the location of the signal changes on the 3T and 7T MRI of the motor cortex. These findings indicate that the motor cortex hypointensity on 3T MRI FLAIR images in ALS is due to increased iron accumulationby microglia. |
1 |
| 84. Ngai S, Tang YM, Du L, Stuckey S. Hyperintensity of the precentral gyral subcortical white matter and hypointensity of the precentral gyrus on fluid-attenuated inversion recovery: variation with age and implications for the diagnosis of amyotrophic lateral sclerosis. AJNR Am J Neuroradiol. 2007;28(2):250-254. |
Observational-Dx |
122 patients |
To assess the prevalence of hyperintensity of the subcortical white matter of the precentral gyrus and hypointensity of the PGGM on FLAIR in patients at various ages who had clinical evidence of amyotrophic lateral sclerosis (ALS) |
We identified 32 cases of grade 1 and 5 cases of grade 2 SWM hyperintensity, and 28 cases of PGGM hypointensity. Both signs showed significant Spearman correlation with increasing age (r = 0.55, P < .001 for grade 1, r = 0.45, P < .001 for grade 2 SWM hyperintensity, r = 0.45, P < .001 for PGGM hypointensity). Analysis of variance showed there was a significant difference between the different age groups (P < .001) for both signs. Grading of the SWM and PGGM signals were highly reproducible with very good interobserver agreement (r = 0.88, P < .001, and r = 0.97, P < .001, respectively). |
2 |
| 85. Chakraborty S, Gupta A, Nguyen T, Bourque P. The "Motor Band Sign:" Susceptibility-Weighted Imaging in Amyotrophic Lateral Sclerosis. Can J Neurol Sci. 42(4):260-3, 2015 Jul. |
Review/Other-Dx |
2 patients |
To review two cases of Amyotrophic Lateral Sclerosis. |
No results stated in the abstract. |
4 |
| 86. Grolez G, Kyheng M, Lopes R, et al. MRI of the cervical spinal cord predicts respiratory dysfunction in ALS. Scientific Reports. 8(1):1828, 2018 Jan 29.Sci. rep.. 8(1):1828, 2018 Jan 29. |
Experimental-Dx |
40 patients |
To assess whether Magnetic Resonance Imaging (MRI) of the cervical spinal cord predicts the progression of respiratory disorders in amyotrophic lateral sclerosis (ALS). |
Brain and spinal MRI was repeatedly performed in the SOD1G86R mouse model, in 40 patients and in healthy controls. Atrophy, iron overload, white matter diffusivity and neuronal loss were assessed. In Superoxide Dismutase-1 (SOD1) mice, iron accumulation appeared in the cervical spinal cord at symptom onset but disappeared with disease progression (after the onset of atrophy). In ALS patients, the volumes of the motor cortex and the medulla oblongata were already abnormally low at the time of diagnosis. Baseline diffusivity in the internal capsule was predictive of functional handicap. The decrease in cervical spinal cord volume from diagnosis to 3 months was predictive of the change in slow vital capacity at 12 months. MRI revealed marked abnormalities at the time of ALS diagnosis. Early atrophy of the cervical spinal cord may predict the progression of respiratory disorders, and so may be of value in patient care and as a primary endpoint in pilot neuroprotection studies. |
2 |
| 87. Querin G, El Mendili MM, Lenglet T, et al. Spinal cord multi-parametric magnetic resonance imaging for survival prediction in amyotrophic lateral sclerosis. European Journal of Neurology. 24(8):1040-1046, 2017 08.Eur J Neurol. 24(8):1040-1046, 2017 08. |
Observational-Dx |
49 patients |
To determine the predictive added value of multimodal SC MRI on survival. |
On building a multivariate Cox regression model with clinical and MRI parameters, fractional anisotropy, magnetization transfer ratio and CSA at C2-C3, C4-C5, C5-C6 and C6-C7 vertebral levels were significant. Moreover, the hazard ratio calculated for CSA at the C3-C4 and C5-C6 levels indicated an increased risk for patients with SC atrophy (respectively 0.66 and 0.68). In our cohort, MRI parameters seem to be more predictive than clinical variables, which had a hazard ratio very close to 1. |
2 |
| 88. Kassubek J, Ludolph AC, Muller HP. Neuroimaging of motor neuron diseases. Therapeutic Advances in Neurological Disorders. 5(2):119-27, 2012 Mar.Ther. adv. neurol. disord.. 5(2):119-27, 2012 Mar. |
Review/Other-Dx |
N/A |
To review neuroimaging of motor neuron diseases. |
No results stated in the abstract. |
4 |
| 89. Lebouteux MV, Franques J, Guillevin R, et al. Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging. European Journal of Neurology. 21(9):1233-41, 2014 Sep. |
Review/Other-Dx |
29 patients |
To comprehensively characterize the full diagnostic spectrum of LMN syndromes with this radiological clue and discuss potential aetiological factors. |
Twenty-nine patients were ascertained and followed up for 9.5 +- 8.6 years. The majority of the patients were male (86.2%) with a mean age of 37.3 +- 14.4 years. Symptoms were bilateral in most cases (86.2%). Patients with predominantly proximal and distal deficits were equally represented (44.8% and 55.2%, respectively). A history of preceding trauma or intense physical activity was confirmed in 58.6% of the cases; 27.6% of the patients were given an initial clinicaldiagnosis of amyotrophic lateral sclerosis (ALS), and 51.7% were originally suspected to have multifocal motor neuropathy. None of the patients developed ALSon longitudinal follow-up. |
4 |
| 90. Branco LM, De Albuquerque M, De Andrade HM, Bergo FP, Nucci A, Franca MC Jr. Spinal cord atrophy correlates with disease duration and severity in amyotrophic lateral sclerosis. Amyotrophic Lateral sclerosis & Frontotemporal Degeneration. 15(1-2):93-7, 2014 Mar. |
Observational-Dx |
Forty-three patients with ALS (25 males) and 43 age- and gender-matched healthy controls |
To investigate spinal cord (SC) atrophy in amyotrophic lateral sclerosis (ALS) patients, and to determine whether it correlates with clinical parameters |
Results showed that mean age of patients and disease duration were 53.1 +- 12.2 years and 34.0 +- 29.8 months, respectively. The two groups were significantly different regarding SC areas (67.8 +- 6.8 mm ² vs. 59.5 +- 8.4 mm ² , p < 0.001). Eccentricity values were similar in both groups ( p = 0.394). SC areas correlated with disease duration ( r = -0.585, p < 0.001), ALSFRS-R score ( r = 0.309, p = 0.044) and ALS Severity scale ( r = 0.347, p = 0.022). In conclusion, patients with ALS have SC atrophy, but no fl attening. In addition, SC areas correlated with disease duration and functional status. These data suggest that quantitative MRI of the SC may be a useful biomarker in the disease. |
2 |
| 91. Paquin ME, El Mendili MM, Gros C, Dupont SM, Cohen-Adad J, Pradat PF. Spinal Cord Gray Matter Atrophy in Amyotrophic Lateral Sclerosis. AJNR Am J Neuroradiol. 2018;39(1):184-192. |
Observational-Dx |
25 patients with amyotrophic lateral sclerosis and 22 healthy controls |
To quantify cervical spinal gray matter atrophy in amyotrophic lateral sclerosis and investigate its association with clinical disability at baseline and after 1 year. |
Gray matter atrophy was more sensitive to discriminate patients with amyotrophic lateral sclerosis from controls (P = .004)compared with spinal cord atrophy (P = .02). Gray matter and spinal cord cross-sectional areas showed good correlations with clinicalscores at baseline (R = 0.56 for gray matter and R = 0.55 for spinal cord; P < .01). Prediction at 1 year with clinical scores (R2 = 0.54) wasimproved when including a combination of gray matter and white matter cross-sectional areas (R2 = 0.74). |
3 |
| 92. American College of Radiology. ACR Appropriateness Criteria® Radiation Dose Assessment Introduction. Available at: https://www.acr.org/-/media/ACR/Files/Appropriateness-Criteria/RadiationDoseAssessmentIntro.pdf. |
Review/Other-Dx |
N/A |
To provide evidence-based guidelines on exposure of patients to ionizing radiation. |
No abstract available. |
4 |
