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1. Gilman S, Gelb DJ. Disorders of the Cerebellum. In: Griggs RC, Joynt RJ, eds. Baker’s Clinical Neurology: Lippincott Williams & Wilkins; 2003 Review/Other-Dx N/A Book chapter. N/A 4
2. Mascalchi M. Spinocerebellar ataxias. Neurol Sci. 2008; 29 Suppl 3:311-313. Review/Other-Dx N/A Review imaging of SCAs. Conventional MRI in patients with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, OPCA and cortical cerebellar atrophy. Non-conventional MRI techniques detect nervous tissue abnormalities before development of atrophy which are correlated with the severity of the clinical deficit. 4
3. Neuromuscular Disease Center WU, St. Louis, MO. Ataxias: Classification. http://neuromuscular.wustl.edu/ataxia/aindex.html. Accessed March 5, 2009. Review/Other-Dx N/A Extensive classification of disorders associated with ataxia. N/A 4
4. Bird TD. Hereditary Ataxia Overview. August 4, 2006; http://www.geneclinics.org/profiles/ataxias/details.html. Accessed March 5, 2009. Review/Other-Dx N/A Review characteristics, diagnosis and management of hereditary ataxia. Genetic forms of ataxia are diagnosed by family history, physical examination, and neuroimaging. 4
5. Schapira AHV, Samuels MA, et al. Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias. Philadelphia, PA: Butterworth, Heinemann, Elsevier; 2007. Review/Other-Dx N/A Book chapter. N/A 4
6. American College of Radiology. ACR Appropriateness Criteria®: vertigo and hearing loss. Available at: http://www.acr.org/SecondaryMainMenuCategories/quality_safety/app_criteria/pdf/ExpertPanelonNeurologicImaging/VertigoandHearingLossDoc14.aspx. Accessed July 2009. Review/Other-Dx N/A ACR Appropriateness Criteria® for “Vertigo and Hearing Loss.” N/A 4
7. Abel TW, Baker SJ, Fraser MM, et al. Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 2005; 64(4):341-349. Review/Other-Dx 31 patients To review histopathologic and molecular characteristics of LDD, and its association with CD. Basic imaging findings and histopathology are illustrated. The pathogenesis of LDD is thought to relate to loss of inhibitory regulation on cell growth and migration. Search for manifestations of CD is needed. 4
8. Perez-Nunez A, Lagares A, Benitez J, et al. Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. Acta Neurochir (Wien). 2004; 146(7):679-690. Review/Other-Dx 5 patients Clinical, diagnostic and genetic study to determine association of LDD with CD. Both a case report and review of literature were performed. 4/5 patients treated for LDD were also diagnosed of CD. LDD is closely related to CD. Authors suggest LDD can also appear as an isolated condition. 4
9. Gaballo A, Palma M, Dicuonzo F, Carella A. Lhermitte-Duclos disease: MR diffusion and spectroscopy. Radiol Med. 2005;110(4):378-384. Review/Other-Dx 2 patients Describe MRI diffusion and spectroscopic imaging findings in LDD. Diffusion coefficients were normal relative to surrounding cerebellar parenchyma. Proton spectroscopy demonstrated a lactate peak and reduction in the choline peak. 4
10. Bruylant K, Crols R, Humbel RL, Appel B, De Deyn PP. Probably anti-Tr associated paraneoplastic cerebellar degeneration as initial presentation of a squamous cell carcinoma of the lung. Clin Neurol Neurosurg. 2006; 108(4):415-417. Review/Other-Dx 1 patient Case report on paraneoplastic cerebellar degeneration associated with anti-Tr (anti-Purkinge cell) antibodies. 14 months after onset of symptoms, whole body PET-scan showed a pathological focus at the right hilus of the lungs. Anatomopathological analysis revealed a non-well differentiated squamous cell carcinoma. This is first report about the association between an anti-Tr associated paraneoplastic cerebellar degeneration and squamous cell carcinoma. 4
11. Scheid R, Voltz R, Briest S, Kluge R, von Cramon DY. Clinical insights into paraneoplastic cerebellar degeneration. J Neurol Neurosurg Psychiatry. 2006; 77(4):529-530. Review/Other-Dx 1 patient Case report on a patient with proven paraneoplastic cerebellar degeneration in whom cerebellar atrophy evolved very rapidly and was present in early imaging studies. In these cases, MRI is recommended in addition to mammography and repeat FDG-PET may be necessary. 4
12. Rees JH, Hain SF, Johnson MR, et al. The role of [18F]fluoro-2-deoxyglucose-PET scanning in the diagnosis of paraneoplastic neurological disorders. Brain. 2001; 124(Pt 11):2223-2231. Observational-Dx 43 patients Retrospective review of case notes of unselected patients with suspected paraneoplastic neurological disorder referred for FDG-PET to determine value of this technique when conventional imaging is negative. FDG-PET is useful in the detection of small tumors in patients with paraneoplastic neurological disorders. 3
13. Ge Y. Multiple sclerosis: the role of MR imaging. AJNR Am J Neuroradiol. 2006; 27(6):1165-1176. Review/Other-Dx N/A Review MRI use, techniques and findings in acute and chronic multiple sclerosis. MRI is sensitive for detecting multiple sclerosis lesions and has proved to be useful for diagnosing multiple sclerosis and monitoring therapeutic trials. 4
14. Filippi M, Rocca MA. MR Imaging of Multiple Sclerosis. Radiology. 2011; 259(3):659-681. Review/Other-Dx N/A Review role of MRI in imaging of patients with multiple sclerosis. Presently, the use of MRI for making treatment decisions is not recommended in routine practice. Modern MR techniques and imaging at very high field strength have contributed to the improvement of understanding of multiple sclerosis pathophysiologic features in selected study groups; however, the role of these MR techniques in the context of clinical trials and individual patient care still needs to be evaluated. 4
15. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 2002; 23(7):1074-1087. Review/Other-Dx 70 patients Retrospective review of MRI to provide a description and classification of cerebellar malformations. Classification system helps in the segregation and understanding of the relationship among cerebellar malformations. 4
16. Boltshauser E. Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A. 2004; 126(4):376-385. Review/Other-Dx N/A Review congenital disorders of the cerebellum. No results stated in abstract. 4
17. Alorainy IA, Sabir S, Seidahmed MZ, Farooqu HA, Salih MA. Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr. 2006; 30(1):116-121. Review/Other-Dx N/A Illustrate the brainstem and cerebellar findings in Joubert syndrome. Awareness of clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are important in diagnosis. 4
18. Valente EM, Marsh SE, Castori M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 2005; 57(4):513-519. Review/Other-Dx N/A Distinguish four genetic causes of Joubert syndrome. Their various brainstems, cerebellar and multi-organ involvement is described. JBTS1 and -3 show features restricted to the central nervous system, with JBTS1 showing largely pure cerebellar and midbrain-hindbrain junction involvement, and JBTS3 displaying cerebellar, midbrain-hindbrain junction, and cerebral cortical features, most notably polymicrogyria. Conversely, JBTS2 is associated with multiorgan involvement of kidney, retina, and liver, in addition to the central nervous system features, and results in extreme phenotypic variability. 4
19. Mercuri E, He J, Curati WL, Dubowitz LM, Cowan FM, Bydder GM. Cerebellar infarction and atrophy in infants and children with a history of premature birth. Pediatr Radiol. 1997; 27(2):139-143. Review/Other-Dx 73 patients Describe cerebellar alteration associated with premature birth and cerebellar vascular insult. MRI findings were reviewed to determine nature and frequency of lesions of the cerebellum and results were correlated with clinical data. 6 cases of unilateral cerebellar infarction were identified. These involved the posterior inferior cerebellar territory in each case (as well as other territories in two cases). A case of generalized cerebellar atrophy and 3 cases of unilateral cerebellar hemisphere atrophy were identified as well. In 9 of these 10 cases abnormalities were also seen elsewhere in the brain. Cerebellar infarction is not uncommon in premature infants with perinatal hemorrhage or hypoxic/ischemic injury. Focal infarction and cerebellar atrophy were the sequella demonstrated with MRI. 4
20. Himmelmann K, Hagberg G, Beckung E, Hagberg B, Uvebrant P. The changing panorama of cerebral palsy in Sweden. IX. Prevalence and origin in the birth-year period 1995-1998. Acta Paediatr. 2005; 94(3):287-294. Review/Other-Dx 170 children with cerebral palsy A population-based study on the prevalence and origin of cerebral palsy in Sweden. Ataxic cerebral palsy was demonstrated in 6% of the cohort. Prenatal insults were responsible for all cases of ataxic cerebral palsy when a cause could be identified. 4
21. Berciano J, Boesch S, Perez-Ramos JM, Wenning GK. Olivopontocerebellar atrophy: Toward a better nosological definition. Mov Disord. 2006. Review/Other-Dx N/A Review nosological definition of OPCA, multiple-system atrophy and idiopathic late onset cerebellar ataxia. OPCA is a pathological label to describe cases that present with a clinical cerebellar-plus syndrome. It is the pathology of idiopathic late onset cerebellar ataxia, 25% of which evolve into multiple-system atrophy. 4
22. Kerber KA, Jen JC, Perlman S, Baloh RW. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations. J Neurol Sci. 2005; 238(1-2):41-45. Review/Other-Dx 38 patients Review clinical findings and quantitative oculomotor tests of patients with late onset pure cerebellar ataxia. Genetic analysis uncovered a mutation in 11 patients. The SCA6 mutation was present in 8 patients. Patients without identified genetic mutations were characterized by: 1) a later age of onset, 2) truncal without extremity ataxia, 3) and down beat nystagmus. Although only a third of these idiopathic late onset ataxia patients had a positive family history, this homogeneous syndrome probably represents a yet to be identified genetic disorder. 4
23. Ormerod IE, Harding AE, Miller DH, et al. Magnetic resonance imaging in degenerative ataxic disorders. J Neurol Neurosurg Psychiatry. 1994; 57(1):51-57. Observational-Dx 53 patients with degenerative ataxias; 96 controls To describe MRI findings in a mixed group of patients with multiple degenerative ataxias. Findings included cerebellar atrophy with or without brainstem atrophy, cerebral atrophy in late onset ataxias, and white matter lesions that were more prevalent than in controls. 3
24. Mijajlovic M, Dragasevic N, Stefanova E, Petrovic I, Svetel M, Kostic VS. Transcranial sonography in spinocerebellar ataxia type 2. J Neurol. 2008; 255(8):1164-1167. Observational-Dx 6 consecutive and unrelated SCA2 patients without parkinsonian signs, 30 consecutive patients with Parkinson’s disease, and 30 healthy controls To prospectively study the use of TCS, in particular the echogenic signal in the substantia nigra, in patients with SCA2, recently recognized as an uncommon cause of parkinsonism. Four (67 %) of the 6 SCA2 patients exhibited substantia nigra hyperechogenicity. In 2 patients, the hyperechogenicity was classified as moderate (unilateral in both) and in 2 as marked. Differences between the substantia nigra echogenicity of the SCA2 group or the Parkinson’s disease group and controls were statistically significant (P<0.001), while there was no difference between the two groups of patients. TCS detects substantia nigra hyperechogenicity in the majority of patients with SCA2 without parkinsonian signs. 2
25. Krogias C, Postert T, Eyding J. Transcranial sonography in ataxia. Int Rev Neurobiol. 2010; 90:217-235. Review/Other-Dx N/A Review TCS and its diagnostic value for the classification of ataxia. Two TCS studies revealed comparable frequencies of hyperechogenicities as well as a similar pattern of basal ganglia lesions in SCA2 and SCA3. Substantia nigra hyperechogenicity was a frequent finding in both reports, indicating a vulnerability of nigrostriatal system in SCA patients. TCS is a commonly available, noninvasive, and inexpensive diagnostic tool, which provides reliable information about the morphology of the brain in ataxias, even in agitated patients who do not tolerate other imaging techniques. Further neuropathological and multimodal imaging studies are needed to elucidate the precise morphological and pathogenetic background of the detected echosignal pathology, and also to correlate these findings to the various clinical features of this disease entity. 4
26. Ginestroni A, Della Nave R, Tessa C, et al. Brain structural damage in spinocerebellar ataxia type 1 : a VBM study. J Neurol. 2008; 255(8):1153-1158. Observational-Dx 15 SCA1 patients and 15 age-matched healthy controls To assess with voxel-based morphometry the structural damage in patients with genetically confirmed SCA1. As compared to controls, patients with SCA1 showed a significant (P<0.05 corrected for multiple comparison) symmetric loss of volume of the gray matter in the rostral cerebellar vermis and paramedian portions of the anterior cerebellar lobes. White matter was decreased in the peridentate region and middle cerebellar peduncles but not in the pons. No gray matter or white matter volume loss was found in the cerebral hemispheres. The cerebellar and brainstem gray matter and white matter volume loss correlated with disease duration and the International Cerebellar Ataxia Rating Scale (ICARS) and Inherited Ataxia Clinical Rating Scale (IACRS) scores. Voxel-based morphometry confirms that atrophy predominantly involves the brainstem and cerebellum in SCA1. The correlation with the clinical features indicates that voxel-based morphometry might be useful to monitor disease progression. 2
27. Schulz JB, Borkert J, Wolf S, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 2010; 49(1):158-168. Observational-Dx 82 consecutive patients; 32 controls To visualize, quantify and correlate localized brain atrophy with clinical symptoms in SCA1, SCA3, and SCA6. Patients suffering from SCA1 (n=48), SCA3 (n=24), and SCA6 (n=10) were compared with controls using MRI on four different scanners in 8 centers followed by voxel-based morphometry and quantitative 3D volumetry. Authors did not observe substantial atrophy in the cerebral cortex. A discriminant analysis taking into account data from pons, cerebellar hemispheres, medulla, midbrain and putamen achieved a reclassification probability of 81.7% for SCA1, SCA3, and SCA6. The repeat length of the expanded allele showed a weak negative correlation with the volume of the brainstem, pons, caudate nucleus and putamen in SCA3, and a weak correlation with the pons in SCA1, whereas no such correlation was found in SCA6. Clinical dysfunction as measured by the Scale for the Assessment and Rating of Ataxia (SARA) and the Unified Huntington's Disease Rating Scale functional assessment correlated best with the atrophy of pons in SCA1, with total brainstem atrophy in SCA3 and atrophy of total cerebellum in SCA6. The data provide strong evidence that MRI is an attractive surrogate marker for clinical studies of SCA. In each SCA genotype clinical dysfunction may be caused by different patho-anatomical processes. 2
28. Della Nave R, Ginestroni A, Tessa C, et al. Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study. Mov Disord. 2008; 23(6):899-903. Observational-Dx 20 patients; 20 healthy controls To assess with voxel-based morphometry, SCA2 patients with mild or moderate cerebellar deficit and age and sex-matched healthy controls. SCA2 patients showed a significant (P<0.05 corrected for multiple comparison) symmetric loss of gray matter in the cerebellar vermis and hemispheres sparing lobules I,II, Crus II,VII, and X, and of the white matter in the peridentate region, middle cerebellar peduncles, dorsal pons, and cerebral peduncles. The cerebro-spinal fluid volume was increased in the posterior cranial fossa. No gray matter, white matter or cerebro-spinal fluid volume changes were observed in the supratentorial compartment. A mild (P < 0.05, >0.01) correlation was observed between the gray matter and white matter loss and severity of the neurological deficit. In SCA2 patients with mild to moderate cerebellar deficit, gray matter and white matter volume loss and cerebro-spinal fluid volume increase are confined to the posterior cranial fossa. 3
29. Reetz K, Lencer R, Hagenah JM, et al. Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum. 2010; 9(2):210-217. Review/Other-Dx 9 SCA17 mutation carriers and 9 healthy individuals To investigate gray matter volume changes over time and its association to clinical neuropsychiatric symptomatology. Both patients and controls underwent a detailed neuropsychiatric clinical examination and a high-resolution T1-weighted volume MRI scan, both at baseline and follow-up after 18 months. Follow-up images revealed a progressive gray matter volume reduction in specific degeneration patterns. In contrast to healthy controls, SCA17 patients showed a greater atrophy not only in cerebellar regions but also in cortical structures. Clinically, progression of motor symptoms was more pronounced than that of psychiatric symptoms. Correlation with the clinical motor scores revealed a progressive reduction of gray matter volume in cerebellar and cerebral motor networks, whereas correlation with psychiatric scores displayed a more widespread gray matter volume impairment in frontal, limbic, parietal, and also cerebellar structures. Changes in global functioning were correlated with bilateral atrophy within the para-/hippocampus. While there was a good temporal association between worsening of motor symptoms and progression in cerebral and cortical neurodegeneration, the progression in psychiatric related neurodegeneration seemed to be more widespread and complex, showing progressive atrophy that preceded the further development of clinical psychiatric symptoms. 4
30. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol. 1995; 37(6):769-775. Observational-Dx 65 patients with dentatorubral-pallidoluysian To examine how the degree of expansion of the trinucleotide repeat affects the clinical manifestations of dentatorubral-pallidoluysian atrophy. Variability of clinical expression correlated with age at onset and with the length of trinucleotide repeat expansion. 3
31. Koide R, Onodera O, Ikeuchi T, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology. 1997; 49(6):1605-1612. Observational-Dx 26 patients Correlate trinucleotide repeat length with imaging findings in subjects with dentatorubral-pallidoluysian atrophy. Atrophy of the brainstem and cerebellum, and increased white matter T2 signal intensity correlated with patient age and trinucleotide repeat length. 3
32. Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005; 62(12):1865-1869. Observational-Dx 13 patients Describe the clinical and imaging findings of late onset Friedreich ataxia. In contrast to imaging findings associated with the usual presentation of Friedreich ataxia, cerebellar and vermis atrophy is common in late onset Friedreich ataxia. 3
33. Filla A, De Michele G, Coppola G, et al. Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord. 2000; 15(6):1255-1258. Observational-Dx 142 patients To examine the accuracy of clinical diagnostic criteria for Friedreich’s ataxia in patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Authors suggest 3 levels of diagnostic certainty: Possible Friedreich’s ataxia, defined as sporadic or recessive progressive ataxia with: a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% PPV); Probable Friedreich’s ataxia as defined by Harding’s criteria (63% sensitivity and 96% PPV) or by Quebec Cooperative Study on Friedreich’s Ataxia criteria (63% sensitivity and 98% PPV); Definite diagnosis, molecularly confirmed. 3
34. Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003; 45(5):315-319. Review/Other-Dx 19 patients Describe MRI finding and correlate findings with neurologic deficit in patients with patients with ataxia-telangiectasia. Lateral cerebellar and vermis atrophy occurred by age 3-7 years. It progressed to severe volume loss by late teen age years. 4
35. Butch AW, Chun HH, Nahas SA, Gatti RA. Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates. Clin Chem. 2004; 50(12):2302-2308. Observational-Dx 21 ataxia telangiectasia patients; 8 carriers and 22 controls Report a rapid laboratory technique for the diagnosis of ataxia telangiectasia. Use of the immunoassay for ataxia-telangiectasia mutated protein is discussed. Ataxia-telangiectasia mutated protein immunoassay can be used to confirm a diagnosis of ataxia telangiectasia in 2-days on small numbers of peripheral blood mononuclear cells and can potentially identify ataxia telangiectasia carriers and individuals at increased risk for cancer. 3
36. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991; 65(5):905-914. Review/Other-Dx N/A Identify the gene and CGG repeat associated with Fragile X syndrome. The FMR-1 gene and abnormal CGG repeat associated with fragile X syndrome is described. Localization of brain-expressed FMR-1 gene to EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome. 4
37. Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001; 57(1):127-130. Review/Other-Dx 5 patients Report the fragile X permutation syndrome in elderly men who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. Authors propose that elevations of FMR-1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR-1 premutation. 4
38. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004; 74(5):805-816. Review/Other-Dx N/A Review genetic, clinical and laboratory alterations associated with fragile X associated tremor/ataxia syndrome. Carriers of 50-200 CGG repeats on the FMR-1 gene present with cognitive alteration, ataxia, tremor, parkinsonism and autonomic dysfunction. 4
39. Grigsby J, Brega AG, Jacquemont S, et al. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci. 2006. Observational-Dx 25 patients To examine circumscribed aspects of cognitive functioning in men with fragile X associated tremor/ataxia syndrome. Capacity for inhibition was severely affected in one-quarter of sample; information processing speed was impaired in most subjects. Although mean verbal and performance IQ scores were not significantly different from the general population, they were quite low given the sample’s educational level. Cognitive and functional impairment was greater for men with more CGG repeats, although number of repeats was not associated with age of onset of either tremor or ataxia. Results provide evidence that fragile X associated tremor/ataxia syndrome involves marked impairment of executive cognitive abilities. 3
40. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002; 23(10):1757-1766. Observational-Dx 17 patients To characterize MRI findings of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized by ataxia, tremor, rigidity, and cognitive dysfunction. MRI findings in symptomatic male fragile X premutation carriers are characteristic of this disorder. Recognition of these alterations may support a specific diagnosis and may have implications for the potential occurrence of fragile X syndrome in the children of reproductive age female relatives. 3
41. Geser F, Wenning GK. The diagnosis of multiple system atrophy. J Neurol. 2006; 253 Suppl 3:iii2-iii15. Review/Other-Dx N/A Describe the clinical and laboratory diagnosis of multiple system atrophy. MRI shows brainstem, cerebellar and putamen atrophy. There is increased T2 signal intensity in the middle cerebellar peduncles, and low T2 signal intensity in the putamen with a lateral plane of increased T2 signal intensity. 4
42. Quinn NP. How to diagnose multiple system atrophy. Mov Disord. 2005; 20 Suppl 12:S5-S10. Review/Other-Dx N/A Review the clinical multiple system atrophy diagnostic criteria. MRI shows brainstem, cerebellar and putamen atrophy. There is increased T2 signal intensity in the middle cerebellar peduncles and low T2 signal intensity in the putamen with a lateral plane of increased T2 signal intensity. 4
43. Arai K. MRI of progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy. J Neurol. 2006; 253 Suppl 3:iii25-iii29. Review/Other-Dx N/A Review the MRI findings in multiple system atrophy, progressive supranuclear palsy and corticobasilar degeneration. Clinical and imaging findings in multiple system atrophy relate to degeneration occurring in extrapyramial and cerebellar systems. Pathways and anatomic alterations are reviewed. 4
44. Berendse HW, Ponsen MM. Diagnosing premotor Parkinson's disease using a two-step approach combining olfactory testing and DAT SPECT imaging. Parkinsonism Relat Disord. 2009; 15 Suppl 3:S26-30. Review/Other-Dx 361 To examine the value of a two-step approach, combining olfactory testing and DAT SPECT imaging, in detecting patients in the premotor phase of Parkinson's disease. A two-step approach of olfactory testing and DAT SPECT imaging may serve to diagnose Parkinson's disease in its premotor phase. Yet, the low PPV of hyposmia indicates that a wider application of this approach for screening purposes would require too many DAT SPECT scans in healthy individuals. Therefore, future studies in larger populations are necessary to further characterize premotor Parkinson's disease and identify additional genetic and/or clinical susceptibility markers to be used in conjunction with olfactory testing as additional screening steps toward diagnosing Parkinson's disease in its earliest stages. 4
45. Brooks DJ. Imaging dopamine transporters in Parkinson's disease. Biomark Med. 2010; 4(5):651-660. Review/Other-Dx N/A Review of how the imaging DAT availability provides a measure of dopamine terminal function and a method for detecting striatal dopamine deficiency states present in idiopathic Parkinson's disease and atypical neurodegenerative Parkinsonian disorders such as multiple system atrophy and progressive supranuclear palsy. DAT imaging with PET or SPECT can be used to support a diagnosis of dopamine-deficient parkinsonism in cases where this is suspected and rationalize the use of dopaminergic agents as therapy. It can also detect subclinical dopaminergic dysfunction when present in subjects at risk of Parkinson's disease, such as relatives of patients, susceptibility gene mutation carriers, and subjects with late-onset hyposmia or sleep disorders. Finally, the presence of normal DAT availability on imaging can help exclude nondopamine-deficient syndromes, such as dystonic and severe essential tremors, drug-induced and psychogenic parkinsonism that, on occasion, mimic Parkinson's disease. 4
46. Pavese N, Brooks DJ. Imaging neurodegeneration in Parkinson's disease. Biochim Biophys Acta. 2009; 1792(7):722-729. Review/Other-Dx N/A To review the different contributions of neuroimaging to the field, with a focus on the assessment of nigrostriatal degeneration in Parkinson’s disease. Functional imaging approaches such as PET and SPECT have been successfully employed to detect dopaminergic dysfunction in Parkinson’s disease, even while at a preclinical stage, and to demonstrate the effects of therapies on function of intact dopaminergic neurons within the affected striatum. PET and SPECT can also monitor Parkinson’s disease progression as reflected by changes in brain levodopa and glucose metabolism and DAT binding. Structural imaging approaches include MRI and TCS. Recent advances in voxel-based morphometry and DWI MRI have provided exciting potential applications for the differential diagnosis of parkinsonian syndromes. Substantia nigra hyperechogenicity, detected with TCS, may provide a marker of susceptibility to Parkinson’s disease, probably reflecting disturbances of iron metabolism, but does not appear to correlate well with disease severity or change with disease progression. 4
47. Scherfler C, Schwarz J, Antonini A, et al. Role of DAT-SPECT in the diagnostic work up of parkinsonism. Mov Disord. 2007; 22(9):1229-1238. Review/Other-Dx N/A This review addresses the value of DAT-SPECT in early differential diagnosis and its potential as a screening tool for subjects at risk of developing Parkinson’s disease as well as issues around the assessment of disease progression. DAT-SPECT can provide valuable additional information in patients presenting with inconclusive parkinsonian symptoms, particularly early in the disease where correct treatment decisions have far reaching implications not only in control of symptoms but also cost-efficiency for national health care systems. 4
48. DiMauro S, Bonilla E. Mitochondrial Encephalomyopathies. In: Rosenberg R, Prusiner S, DiMauro S, al. e, eds. The Molecular and Genetic Basis of Neurological Disease. Boston: Butterworth-Heinemann; 1997:201-236. Review/Other-Dx N/A Book chapter. N/A 4
49. Rossi A, Biancheri R, Bruno C, et al. Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 2003; 24(6):1188-1191. Review/Other-Dx 3 patients Report the MRI findings associated with Leigh Syndrome. Regions of increased T2 signal intensity in the substantia nigra, subthalamic nuclei, central tegmental tract, medulla, pons, dentate nuclei and inferior cerebellar peduncles. The putamen was variably involved. Imaging finds are characteristic but not specific for a given genetic defect. 4
50. Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology. 2003; 60(7):1206-1208. Review/Other-Dx 135 patients Measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from patients with genetically undefined cerebellar ataxia. 13 patients with childhood-onset ataxia and cerebellar atrophy had decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation. 4
51. van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006; 5(5):413-423. Review/Other-Dx N/A Review the topic of vanishing white matter disease. Childhood progressive ataxia and encephalopathy with diffuse increased T2 signal intensity and volume loss of white matter is diagnostic. 4
52. Kumar N, Cohen-Gadol AA, Wright RA, Miller GM, Piepgras DG, Ahlskog JE. Superficial siderosis. Neurology. 2006; 66(8):1144-1152. Review/Other-Dx 30 consecutive patients Review the clinical and imaging features of superficial siderosis. Hearing loss and slowly progressive ataxia were the most common presenting symptoms. Cerebellar atrophy and low T2 superficial signal intensity were typical. 4
53. Kumar N. Neuroimaging in superficial siderosis: an in-depth look. AJNR Am J Neuroradiol. 2010; 31(1):5-14. Review/Other-Dx N/A Review role of neuroimaging in the diagnosis and management of superficial siderosis with a focus on recent developments in the understanding of this disorder. MRI shows the characteristic marginal T2 hypointensity around the brain stem, cerebellum, and spinal cord and may also provide a clue to the possible etiology. Due to widespread use of MRI, superficial siderosis is being increasingly recognized. With longitudinally extensive collections, a CT myelogram may help localize the defect and direct the site of laminectomy. With large defects and high-flow leaks, a dynamic CT myelogram or digital substraction myelography may be needed to identify the dural defect. Dynamic CT myelography and digital substraction myelography are invasive techniques that are time-intensive and need a higher radiation dose. They should be used in carefully selected patients, and further research is needed to define their role in clinical practice. 4
54. Bassi SS, Bulundwe KK, Greeff GP, Labuscagne JH, Gledhill RF. MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency: two additional cases and a review of the literature. Neuroradiology. 1999; 41(4):271-274. Review/Other-Dx 2 patients Report two cases of MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency and review the literature. MRI of early B12 related myelopathy can show cord swelling and increased T2 signal intensity with or without enhancement following contrast administration. There may be late atrophy or findings may resolve with treatment. The cord may also appear normal, even though symptomatic. 4
55. Facchini SA, Jami MM, Neuberg RW, Sorrel AD. A treatable cause of ataxia in children. Pediatr Neurol. 2001; 24(2):135-138. Review/Other-Dx 1 patient Describe and illustrate the imaging findings associated with B12 deficiency. MRI is illustrated, findings are discussed, and the literature is reviewed. Spinal MRI demonstrated extensive demyelination of the posterior columns along the entire length of the cord, and areas of contrast enhancement. 4
56. Inoue N, Ichimura H, Goto S, Hashimoto Y, Ushio Y. MR imaging findings of spinal posterior column involvement in a case of Miller Fisher syndrome. AJNR Am J Neuroradiol. 2004; 25(4):645-648. Review/Other-Dx 1 patient Describe the MRI findings in Miller-Fisher syndrome. The significant MRI was initial abnormal enhancement of the lower spinal nerves, with cerebellum normal. Five months later there was increased T2 signal intensity in the posterior column of the spinal cord at C1-T12. 4
57. Borne J, Riascos R, Cuellar H, Vargas D, Rojas R. Neuroimaging in drug and substance abuse part II: opioids and solvents. Top Magn Reson Imaging. 2005; 16(3):239-245. Review/Other-Dx N/A To review the imaging finding associated with opiate and solvent abuse. Imaging alterations are mediated by vascular, infectious, cytotoxic and demyelinating mechanisms. Cerebellar atrophy and infarction are frequent. 4
58. Korogi Y, Takahashi M, Okajima T, Eto K. MR findings of Minamata disease--organic mercury poisoning. J Magn Reson Imaging. 1998; 8(2):308-316. Review/Other-Dx N/A Describe the MRI findings of Minimata disease. There is prominent atrophy of the visual cortex, cerebellar vermis and cerebral cortex, though most prominently in pre and post central cortex. There is increased T2 signal intensity in occipital cortex. 4
59. Abbaslou P, Zaman T. A Child with elemental mercury poisoning and unusual brain MRI findings. Clin Toxicol (Phila). 2006; 44(1):85-88. Review/Other-Dx 1 patient Describe unusual brain MRI findings in a child with mercury vapor poisoning. Multiple regions of high T2 signal intensity were demonstrated in cerebral white matter, left globus pallidus and putamen. 4
60. Heaney CJ, Campeau NG, Lindell EP. MR imaging and diffusion-weighted imaging changes in metronidazole (Flagyl)-induced cerebellar toxicity. AJNR Am J Neuroradiol. 2003; 24(8):1615-1617. Review/Other-Dx 1 patient Describe MRI changes associated with metranidazole toxicity. MRI included increased T2 signal intensity in the dentate nuclei with associated restricted diffusion. Follow-up imaging 8 weeks after cessation of metronidazole therapy showed resolution of imaging findings, including diffusion changes. 4
61. Kim E, Na DG, Kim EY, Kim JH, Son KR, Chang KH. MR imaging of metronidazole-induced encephalopathy: lesion distribution and diffusion-weighted imaging findings. AJNR Am J Neuroradiol. 2007; 28(9):1652-1658. Review/Other-Dx 7 total patients initial MRI (n=7), DWI (n=5), follow-up MRI (n=4) Retrospective review of images to determine the topographic distributions and DWI findings of metronidazole-induced encephalopathy. Brain lesions were typically located at the cerebellar dentate nucleus, midbrain, dorsal pons, medulla, and splenium of the corpus callosum. According to DWI, most of the lesions in metronidazole-induced encephalopathy probably corresponded to areas of vasogenic edema, whereas only some of them, located in the corpus callosum, corresponded to cytotoxic edema. 4
62. Spampinato MV, Castillo M, Rojas R, Palacios E, Frascheri L, Descartes F. Magnetic resonance imaging findings in substance abuse: alcohol and alcoholism and syndromes associated with alcohol abuse. Top Magn Reson Imaging. 2005; 16(3):223-230. Review/Other-Dx N/A Review imaging alterations associated with chronic ethanol abuse. Mechanisms of brain toxicity and imaging findings associated with Wernicke encepha-lopathy, fetal alcohol syndrome, Marchiafava-Bignami disease, chronic hepatic encepha-lopathy, osmotic demyelization syndrome, and methanol toxicity are reviewed and illustrated. No results stated in abstract. 4
63. Zuccoli G, Siddiqui N, Cravo I, Bailey A, Gallucci M, Harper CG. Neuroimaging findings in alcohol-related encephalopathies. AJR. 2010; 195(6):1378-1384. Review/Other-Dx N/A Review the emergent neuroimaging findings of alcohol-related central nervous system nontraumatic disorders. Alcohol-related encephalopathies can be life-threatening conditions but can be prevented or treated, if recognized. 4
64. Offiah C, Hall E. Heroin-induced leukoencephalopathy: characterization using MRI, diffusion-weighted imaging, and MR spectroscopy. Clin Radiol. 2008; 63(2):146-152. Review/Other-Dx 6 patients To describe the MRI characteristics of heroin-induced leukoencephalopathy and, in particular, the DWI and MRS features. Cerebellar white matter was involved in all 6 cases demonstrating similar symmetrical distribution with sparing of the dentate nuclei. Brain stem signal change was evident in 5/6 patients imaged. Supratentorial brain parenchymal involvement, as well as brain stem involvement, correlated anatomically with corticospinal tract distribution. None of the areas of signal abnormality were restricted on DWI. Of those patients subjected to MRS, the areas of parenchymal damage demonstrated reduced N-acetylaspartate, reduced choline, and elevated lactate. Heroin-induced leukoencephalopathy results in characteristic and highly specific signal abnormalities on MRI, which can greatly aid diagnosis. DWI and MRS findings can be explained by known reported neuropathological descriptions in this condition and can be used to support a proposed mechanism for the benefit of current recommended drug treatment regimes. 4
65. Vorgerd M, Tegenthoff M, Kuhne D, Malin JP. Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency. Neuroradiology. 1996; 38 Suppl 1:S111-113. Review/Other-Dx 1 patient Describe spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency. MRI of the cervical spine demonstrated high-signal lesions on T2-weighted images in the posterior columns, correlating with the clinical findings. 4
66. Battisti C, Toffola ED, Verri AP, et al. Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency. Brain Dev. 1998; 20(4):253-257. Review/Other-Dx 1 patient Describe MRI alterations associated with vitamin E deficiency, ataxia and cerebellar atrophy. MRI demonstrated diffuse cerebellar atrophy. 4
67. Stott VL, Hurrell MA, Anderson TJ. Reversible posterior leukoencephalopathy syndrome: a misnomer reviewed. Intern Med J. 2005; 35(2):83-90. Review/Other-Dx 6 patients Illustrate and review the syndrome of posterior leukoencephalopathy. Increased T2 and FLAIR signal in posterior regions of the cerebral hemispheres is compatible with the multiple causes, each of which is reviewed. 4
68. Kitaguchi H, Tomimoto H, Miki Y, et al. A brainstem variant of reversible posterior leukoencephalopathy syndrome. Neuroradiology. 2005; 47(9):652-656. Review/Other-Dx 2 patients Present 2 patients with reversible brainstem encephalopathy: one with hypertension and the other without hypertension. Pontine swelling and increased signal intensity is demonstrated on FLAIR and T2-weighted imaging. Reversible brainstem encephalopathy with characteristic MRI features was found in both hypertensive and non-hypertensive patients. 4
69. Ugurel MS, Hayakawa M. Implications of post-gadolinium MRI results in 13 cases with posterior reversible encephalopathy syndrome. Eur J Radiol. 2005; 53(3):441-449. Review/Other-Dx 13 patients Retrospective review of MRI findings and clinical data to evaluate contrast enhanced MRI in reversible posterior leukoencephalopathy. Distinct contrast enhancement is not evident in the majority of cases with reversible posterior leukoencephalopathy. 4
70. Donmez FY, Basaran C, Kayahan Ulu EM, Yildirim M, Coskun M. MRI features of posterior reversible encephalopathy syndrome in 33 patients. J Neuroimaging. 2010; 20(1):22-28. Observational-Dx 33 patients To report the clinical and radiological features of posterior reversible encephalopathy and compare findings to the literature. The brain MRI and clinical records of patients were retrospectively evaluated. The most commonly involved localizations were frontal lobe in 51.5%, parietal lobe in 84.8%, occipital lobe in 72.7%, temporal lobe in 33.3%, and cerebellum in 33.3%. 19 patients had DWI, which showed vasogenic edema in 17 and cytotoxic edema in 2. 16 patients had contrast-enhanced images; 4 of them showed focal enhancement. 9 patients had the complication of hemorrhage. The involvement of different localizations formerly known as atypical is now commonly encountered. Intravenous contrast administration may be of use to demonstrate focal enhancement and exclude other diseases in the differential. DWI is essential to distinguish the type of edema. Repeat imaging including DWI should be performed to follow the response to therapy. 3
71. Roth C, Ferbert A. The posterior reversible encephalopathy syndrome: what's certain, what's new? Pract Neurol. 2011; 11(3):136-144. Review/Other-Dx N/A Review clinical and imaging features of posterior reversible encephalopathy syndrome, the differential diagnosis, possible pathogenic mechanisms, prognosis (without and with treatment) and management. MRI is the gold standard and should be performed as soon as posterior reversible encephalopathy syndrome is suspected. The lesions are bright on T2 weighted and FLAIR imaging. Typical posterior reversible encephalopathy syndrome lesions on MRI are thought to represent vasogenic oedema. 4
72. Kataoka S, Hori A, Shirakawa T, Hirose G. Paramedian pontine infarction. Neurological/topographical correlation. Stroke. 1997; 28(4):809-815. Review/Other-Dx 49 patients Analyzed clinical signs and their association with MRI findings to describe clinical correlates of paramedian pontine infarction. A faciobrachial dominant hemiparesis with dysarthria, somatosensory alteration and horizontal gaze abnormality are most common. Ataxia is not a frequent component. 4
73. Katoh M, Kawamoto T. Bilateral medial medullary infarction. J Clin Neurosci. 2000; 7(6):543-545. Review/Other-Dx 13 patients Present a case of bilateral medial medullary infarction demonstrated by MRI and review 12 previously reported cases. MRI showed upper medial medullary infarction bilaterally that extended to the pontomedullary junction. Authors propose that the prognosis of type 2 bilateral medial medullary infarction is better than that of type 1. 4
74. Kim JS, Kim J. Pure midbrain infarction: clinical, radiologic, and pathophysiologic findings. Neurology. 2005; 64(7):1227-1232. Observational-Dx 40 patients Report the MR findings and pathogenesis of pure midbrain infarction. Clinical-radiologic correlation study yields 4 distinct subgroups: anteromedial, anterolateral, combined, and lateral. Large vessel disease and small vessel disease are usual pathogenic mechanisms, whereas cardiogenic embolism is rare. 4
75. Kim JS, Lee JH, Im JH, Lee MC. Syndromes of pontine base infarction. A clinical-radiological correlation study. Stroke. 1995; 26(6):950-955. Review/Other-Dx 37 patients Report the clinical-imaging correlation of lacunar infarction involving the base of the pons. Study suggested large lesions involving the paramedian caudal or middle pons correlate with severe hemiparesis, whereas lesions of similar size located in the paramedian rostral pons tended to produce dysarthria-clumsy hand syndrome. In pontine lacunar infarction various manifestations of ataxia are frequent, but they are less common than sensory-motor alteration. 4
76. Luijckx GJ, Boiten J, Lodder J, Heuts-van Raak L, Wilmink J. Isolated hemiataxia after supratentorial brain infarction. J Neurol Neurosurg Psychiatry. 1994; 57(6):742-744. Review/Other-Dx 3 patients Describe hemiataxia in association with infarction involving the posterior limb of the internal capsule. Hemiataxia can occur in association with isolated supratentorial infarction involving the posterior limb of the internal capsule. 4
77. Melo TP, Bogousslavsky J. Thalamic ataxia syndrome. Neurology. 1995; 45(3 Pt 1):598-599. Review/Other-Dx N/A Letter to editor commenting on a paper by Solomon et al. regarding patients with contralateral “cerebellar” ataxia and hemisensory loss following unilateral thalamic stroke. Solomon et al. showed that hemiataxia-hypesthesia is closely associated with contralateral lateroposterior thalamic damage, which confirms the authors previous findings. 4
78. Mossuto-Agatiello L. Caudal paramedian midbrain syndrome. Neurology. 2006; 66(11):1668-1671. Review/Other-Dx 5 patients Examine patients with MRI evidence of unilateral paramedian caudal midbrain infarction to define clinical and radiologic picture. 3 cases had ocular movement abnormalities. A constant MRI finding was bilateral inferior olivary degeneration, but only one patient displayed a delayed palatal tremor. A single strategically placed unilateral lesion can cause bilateral dysfunction A bilateral cerebellar syndrome can occur with unilateral lesions in the lower midbrain with a wide range of other clinical features. 4
79. Ye BS, Kim YD, Nam HS, Lee HS, Nam CM, Heo JH. Clinical manifestations of cerebellar infarction according to specific lobular involvement. Cerebellum. 2010; 9(4):571-579. Observational-Dx 66 consecutive patients Analysis of patients with isolated cerebellar infarctions demonstrated on DWI MRI. The most common symptoms in patients with isolated cerebellar infarctions were vertigo (87%) and lateropulsion (82%). Isolated vertigo or lateropulsion without any other symptoms was present in 38% of patients. On the other hand, limb ataxia was a presenting symptom in only 40% of the patients. Lateropulsion, vertigo, and nystagmus were more common in patients with a lesion in the caudal vermis. Logistic regression analysis showed that lesions in the posterior paravermis or nodulus were independently associated with lateropulsion. Lesions in the nodulus were associated with contralateral pulsion, and involvement of the culmen was associated with ipsilateral pulsion and isolated lateropulsion without vertigo. Nystagmus was associated with lesions in the pyramis lobule, while lesions of the anterior paravermis were associated with dysarthria and limb ataxia. Results showed that the cerebellar lobules are responsible for producing specific symptoms in cerebellar stroke patients. 3
80. Cormier PJ, Long ER, Russell EJ. MR imaging of posterior fossa infarctions: vascular territories and clinical correlates. Radiographics. 1992; 12(6):1079-1096. Review/Other-Dx 18 patients Retrospective study to describe MRI findings associated with posterior fossa infarction. MRI depicts the anatomy of the posterior fossa and infarcts with greater accuracy than was previously possible. Familiarity with the vascular territories and patterns of infarction of the posterior fossa depicted with MRI and familiarity with the associated clinical symptoms of stroke in this region can help the radiologist recognize these infarcts and correlate clinical and radiologic findings. When patients are referred for MRI of the brain because of clinical findings suggestive of infarction, it may be useful to obtain coronal or sagittal views in addition to axial images to better depict the vascular distribution of a suspected ischemic lesion. 4
81. Hoh BL, Cheung AC, Rabinov JD, Pryor JC, Carter BS, Ogilvy CS. Results of a prospective protocol of computed tomographic angiography in place of catheter angiography as the only diagnostic and pretreatment planning study for cerebral aneurysms by a combined neurovascular team. Neurosurgery. 2004;54(6):1329-1340; discussion 1340-1322. Review/Other-Dx 223 patients Since late 2001/early 2002, the combined neurovascular unit of the Massachusetts General Hospital has adopted a prospective protocol of CTA in place of DSA as the only diagnostic and pretreatment planning study for patients with cerebral aneurysms (ruptured and unruptured). The results are obtained during the 12-month period from January 2002 to January 2003. During the study period, 223 patients with cerebral aneurysms underwent initial diagnostic evaluation for cerebral aneurysm by the combined neurovascular team of Massachusetts General Hospital. Of the 223 patients, 109 patients had confirmed subarachnoid hemorrhage (Group A) and 114 patients did not have SAH (Group B). All of these patients were included in the prospective CTA protocol. Cerebral aneurysm treatment was initiated on the basis of CTA alone in 93 Group A patients (86%), in 89 Group B patients (78%), and in 182 patients (82%) overall. Treatment consisted of surgical clipping in 152 patients (68%), endovascular coiling in 56 patients (25%), endovascular parent artery balloon occlusion in 4 patients (2%), and external carotid artery to internal carotid artery bypass and carotid artery surgical occlusion in 2 patients (1%). Nine patients (4%) did not undergo treatment. The cerebral aneurysm detection rate by CTA was 100% for the presenting aneurysm (ruptured aneurysm in Group A or symptomatic/presenting aneurysm in Group B) in both groups. The detection rate by CTA for total cerebral aneurysms, including incidental multiple aneurysms, was 95.3% in Group A, 98.3% in Group B, and 97% overall. The overall morbidity associated with DSA (pretreatment or as intraoperative or postoperative clip evaluation) was one patient (1.3%) with a minor nonneurological complication, one patient (1.3%) with a minor neurological complication, and no patients (0%) with a major neurological complication. 4
82. Caplan LR, Biousse V. Cervicocranial arterial dissections. J Neuroophthalmol. 2004; 24(4):299-305. Review/Other-Dx N/A Review the topic of cervicocranial arterial dissections. Diagnosis and management is reviewed. Common manifestations are pain and neuro-ophthalmic symptoms and signs. 4
83. Shah GV, Quint DJ, Trobe JD. Magnetic resonance imaging of suspected cervicocranial arterial dissections. J Neuroophthalmol. 2004; 24(4):315-318. Review/Other-Dx 1 patient MRI of suspected cervicocranial arterial dissection is reviewed. A protocol for combined MRA and MRI, using fat suppressed sequences is proposed. 4
84. Tay KY, JM UK-I, Trivedi RA, et al. Imaging the vertebral artery. Eur Radiol. 2005; 15(7):1329-1343. Review/Other-Dx N/A Review the current state of vertebral artery imaging. Techniques for imaging of vertebral artery dissection, using CTA, catheter based angiography and MRI are discussed. CTA may have a sensitivity of 100% and specificity of 98%. 4
85. Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994; 8(2):136-140. Review/Other-Dx N/A Identify the genetic alteration associated with episodic ataxia. Episodic ataxia and myokymia is associated with mutation of the voltage gated K+ channel gene KCNA1. 4
86. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004; 62(1):17-22. Review/Other-Dx 18 families and 9 sporadic cases of episodic ataxia Describe the findings and mutations associated with episodic ataxia type 2. Alterations in neuronal CA channels, heavily expressed in the cerebellum, are associated with episodic ataxia, occasional progressive ataxia, episodic hemiplegia and migraine. 4
87. Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005; 65(4):529-534. Review/Other-Dx 40 asymptomatic relatives of patients with migraine; 96 controls; 1 case report Describe the excitatory amino acid transporter 1 mutation and associated episodic ataxia, hemiplegia and seizures. Mutation in the glutamate excitatory amino acid transporter can contribute to neuronal hyper-excitability, and thereby cause seizures, hemiplegia and episodic ataxia. 4
88. Garg M, Gupta RK, Husain M, et al. Brain abscesses: etiologic categorization with in vivo proton MR spectroscopy. Radiology. 2004; 230(2):519-527. Observational-Dx 75 patients To use proton MRS to categorize the etiologic agent causing brain abscess. MRI and in vivo single-voxel proton MR spectroscopic data obtained from patients with brain abscesses were retrospectively analyzed. Proton MRS demonstrates the absence of acetate and succinate in abscess due to obligate aerobes or facultative anaerobes. Acetate and succinate are present with obligate anaerobes alone or in combination with facultative anaerobes. 3
89. Jaggi RS, Husain M, Chawla S, Gupta A, Gupta RK. Diagnosis of bacterial cerebellitis: diffusion imaging and proton magnetic resonance spectroscopy. Pediatr Neurol. 2005; 32(1):72-74. Review/Other-Dx 1 patient Describe diffusion imaging and proton spectroscopy in brain abscess and briefly review the literature. Diffusion is restricted in abscess, and spectroscopy in the presence of obligate anaerobes demonstrates elevated lactate, acetate and succinate. 4
90. Kato Z, Kozawa R, Teramoto T, Hashimoto K, Shinoda S, Kondo N. Acute cerebellitis in primary human herpesvirus-6 infection. Eur J Pediatr. 2003; 162(11):801-803. Review/Other-Dx 1 patient Describe cerebellitis due to herpesvirus-6. Herpes virus can cause an isolated cerebellitis. Imaging findings consisted of increased T2 signal intensity and restricted diffusion in the cerebellum. 4
91. Mendonca RA, Martins G, Lugokenski R, Rossi MD. Subacute spongiform encephalopathies. Top Magn Reson Imaging. 2005; 16(2):213-219. Review/Other-Dx N/A Describe the clinical course, pathology and imaging of the subacute spongiform encephalopathies. Diffusion imaging is the most sensitive initial sequence, while MRI has an overall sensitivity of 91%, specificity of 95% and accuracy of 94%. 4
92. De Bruecker Y, Claus F, Demaerel P, et al. MRI findings in acute cerebellitis. Eur Radiol. 2004; 14(8):1478-1483. Review/Other-Dx 4 patients Describe the clinical, CT and MRI finding in four cases and review existing literature. Most common imaging finding was bilateral diffuse hemispheric abnormalities. The development of cerebellar atrophy following an initial normal MRI is a new finding. In atypical clinical presentation, MRI can lead to the diagnosis. MRI findings have, however, no prognostic value. 4
93. de Ribaupierre S, Meagher-Villemure K, Villemure JG, et al. The role of posterior fossa decompression in acute cerebellitis. Childs Nerv Syst. 2005; 21(11):970-974. Review/Other-Dx 2 patients Discuss the role of posterior fossa decompression in the management of acute cerebellitis. External ventricular drainage and posterior fossa decompression may limit secondary brainstem or cerebellar lesions. 4
94. Adachi M, Kawanami T, Ohshima H, Hosoya T. Cerebellar atrophy attributed to cerebellitis in two patients. Magn Reson Med Sci. 2005; 4(2):103-107. Review/Other-Dx 2 patients Describe the late findings of cerebellitis in two rare patients considered to be in late-stage cerebellitis. Findings included isolated cerebellar atrophy and slightly increased cortical signal intensity on FLAIR images. 4
95. Mondejar RR, Santos JM, Villalba EF. MRI findings in a remitting-relapsing case of Bickerstaff encephalitis. Neuroradiology. 2002; 44(5):411-414. Review/Other-Dx 1 patient Describe the imaging findings in one case of remitting-relapsing Bickerstaff encephalitis and their significance when a clinical differentiation between Bickerstaff encephalitis and Miller-Fisher syndrome is attempted. Signs and symptoms may occasionally overlap. However, because Miller-Fisher syndrome is related to the peripheral nervous system and Bickerstaff encephalitis is a central disease, the recognition of brain stem hypointense lesions on T1-weighted images, which are hyperintense on T2-weighted sequences, could be a reliable tool when the clinical diagnosis is unclear. 4
96. Weidauer S, Ziemann U, Thomalske C, Gaa J, Lanfermann H, Zanella FE. Vasogenic edema in Bickerstaff's brainstem encephalitis: a serial MRI study. Neurology. 2003; 61(6):836-838. Review/Other-Dx 1 patient Describe the MRI findings of a patient with Bickerstaff’s brainstem encephalitis, disclosing caudal migration of an initial upper midbrain lesion and review literatures. High apparent diffusion coefficient values imply a vasogenic rather than cytotoxic edema as the cause of the hyperintense signal changes on T2-weighted images. 4
97. Suzuki K, Meguro K, Nakayama J, Aoki T, Tsurushima H. MRI of an infant with Fisher syndrome. Childs Nerv Syst. 1997; 13(2):95-96. Review/Other-Dx 1 patient Describe the MRI findings of an infant with Miller-Fisher syndrome. The significant MR finding was increased T2 signal intensity lesion in the left cerebellar hemisphere and left middle cerebellar peduncle. 4
98. Garcia-Rivera CA, Rozen TD, Zhou D, et al. Miller Fisher syndrome: MRI findings. Neurology. 2001; 57(10):1755. Review/Other-Dx 1 patient Describe the imaging findings in Miller-Fisher syndrome. The significant MR finding was abnormal enhancement of the lower cranial nerves. 4
99. Terry JB, Rosenberg RN. Frontal lobe ataxia. Surg Neurol. 1995; 44(6):583-588. Review/Other-Dx 1 patient Case report on a patient with large bilateral, medial-orbital, frontal lobe lesion who manifested gait impairment and dysarthria. Lesion is defined by MRI and PET. Disruption of the frontopontocerebellar pathway, originating from Brodman’s area 10 in the frontal cortex, is the likely mechanism for frontal ataxia. 4