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Appropriateness Criteria

Reference Study Type Patients/Events Study Objective(Purpose of Study) Study Results Study Quality
1. Pavone P, Pratico AD, Pavone V, et al. Ataxia in children: early recognition and clinical evaluation. [Review]. Ital. J. Pediatr.. 43(1):6, 2017 Jan 13. Review/Other-Dx N/A To describe the primary clinical ways of detecting ataxia in children. The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive. 4
2. Sivaswamy L.. Approach to acute ataxia in childhood: diagnosis and evaluation. Pediatr Ann. 43(4):153-9, 2014 Apr. Review/Other-Dx N/A To focus on the etiology and diagnostic considerations for acute ataxia, which for the purposes of this discussion refers to ataxia with a symptom evolution time of less than 72 hours. No results stated in the abstract. 4
3. Tsai TL, Liu CS, Lai CH. Nationwide population-based epidemiologic study on cerebellar ataxia in Taiwan. Eur Neurol. 66(4):215-9, 2011. Review/Other-Dx 934 patients To conduct the first nationwide population-based epidemiologic study on cerebellar ataxia in Taiwan. During the study, 934 cases were identified (average annual incidence: 0.91/100,000). No significant difference was noted in the incidence in men and women. The majority of the patients were middle-aged or elderly. 4
4. Vedolin L, Gonzalez G, Souza CF, Lourenco C, Barkovich AJ. Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. [Review]. AJNR Am J Neuroradiol. 34(5):925-34, S1-2, 2013 May. Review/Other-Dx N/A To discuss a pattern-recognition approach to inherited cerebellar ataxia in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degenerative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging technique to investigate these patients, and imaging abnormalities include size, shape, and/or signal of the brain stem and/or cerebellum. Supratentorial and cord lesions are also common. 4
5. Wolf NI, Koenig M. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. [Review]. Handb. clin. neurol.. 113:1869-78, 2013. Review/Other-Dx N/A No abstract available. No abstract available. 4
6. Sahama I, Sinclair K, Fiori S, et al. Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. Neuroimage (Amst). 9:206-15, 2015. Observational-Dx 12 patients To investigate white matter motor pathway integrity ataxia telangiectasia patients using diffusion magnetic resonance imaging (MRI) and probabilistic tractography. Reduced fractional anisotropy along all analyzed patient tracts were observed (p < 0.001). Mean diffusivity was significantly elevated in anterior tract locations but was reduced within cerebellar peduncle regions of all patient tracts (p < 0.001). Reduced tract streamline number and tract volume in the left and right corticospinal and somatosensory tracts were observed in patients (p < 0.006). In addition, reduced apparent fiber density in the left and right corticospinal and right somatosensory tracts (p < 0.006) occurred in patients. 3
7. Caffarelli M, Kimia AA, Torres AR. Acute Ataxia in Children: A Review of the Differential Diagnosis and Evaluation in the Emergency Department. [Review]. Pediatr Neurol. 65:14-30, 2016 12. Review/Other-Dx N/A To guide physicians in the emergency department and consulting pediatric neurologists who are evaluating children presenting with acute-onset ataxia. No results stated in the abstract. 4
8. Poretti A, Benson JE, Huisman TA, Boltshauser E. Acute ataxia in children: approach to clinical presentation and role of additional investigations. Neuropediatrics 2013;44:127-41. Review/Other-Dx N/A To discuss the various etiologies of acute pediatric ataxia, focusing on clinical presentation, diagnostic considerations, and approach to investigation. No results stated in the abstract. 4
9. Overby P, Kapklein M, Jacobson RI. Acute Ataxia in Children. Pediatr Rev 2019;40:332-43. Review/Other-Dx 71 patients To determine deep-seated fungal infections in immuno-compromised patients. A study of fungal isolated for identification of deep fungal infections, risk factors and etiologic agents in immunocompromised patients was carried out in the section of Medical Mycology, Pasteur Institute of Iran from 1994 to 2001. Seventy one immunosuppressed patients with deep fungal infection were retrospectively analyzed for etiology and risk factors. They had one or more predisposing factors to disseminated fungal infections. Diagnosis was established by demonstration of fungus in direct and cultural examinations. Candida spp. were isolated in 70.4% (39.4% C.albicans and 30.9% non-albincans), and Aspergillus spp. were isolated in 14.1% of cases. The most frequent risk factors were hematologic malignancy (ALL, lymphoma, Hodgkin, multiple myeloma) and diabetes mellitus. This study suggests that in immunocompromised patients, fungal infections especially in saprophytic infections, background evaluation and clinical features, correspondence of clinical symptoms and laboratory examinations should be considered and investigation of other factors which created the infection will lead us to a clear picture of patients' situation. 4
10. Musselman KE, Stoyanov CT, Marasigan R, et al. Prevalence of ataxia in children: a systematic review. Neurology 2014;82:80-9. Review/Other-Dx 115 studies To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes. One hundred fifteen articles were included in the review. More than 50% of the data originated from the Europe WHO region. Data from this region also showed the least susceptibility to bias. Little data were available for Africa and Southeast Asia. The prevalence of acquired ataxias was found to vary more greatly across regions than the genetic ataxias. Ataxic cerebral palsy was found to be a significant contributor to the overall prevalence of childhood ataxia across WHO regions. The prevalence of childhood ataxias in Europe was estimated to be ~26/100,000 children and likely reflects a minimum prevalence worldwide. 4
11. Mallaret M, Renaud M, Redin C, et al. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. J Neurol. 263(7):1314-22, 2016 Jul. Observational-Dx 145 patients To report the validation of a previously published clinical practice-based algorithm to diagnose autosomal recessive cerebellar ataxias (ARCA). The correct gene was predicted in 61 and 78 % of the cases by the two assessors, respectively. There was a high interrater agreement [K = 0.85 (0.55–0.98) p\0.001] confirming the algorithm’s reproducibility. Phenotyping patients with proper clinical examination, imaging, biochemical investigations and nerve conduction studies remain crucial for the guidance of molecular analysis and to interpret next generation sequencing results. 2
12. Arslan EA, Gocmen R, Oguz KK, et al. Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey. Acta Neurol Belg. 117(4):857-865, 2017 Dec. Observational-Dx 196 patients To develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. 3
13. Whelan HT, Verma S, Guo Y, et al. Evaluation of the child with acute ataxia: a systematic review. [Review]. Pediatr Neurol. 49(1):15-24, 2013 Jul. Review/Other-Dx N/A To review the evidence concerning the diagnostic yield of commonly ordered tests in evaluating the child with acute ataxia. The literature revealed the following frequencies of laboratory screening abnormalities in children with acute ataxia: CT ( approximately 2.5%), MRI ( approximately 5%), lumbar puncture (43%), EEG (42%), and toxicology (49%). In most studies, abnormalities detected by these screening tests were nondiagnostic. There are insufficient data to assess yields of testing for autoimmune disorders or inborn errors of metabolism. Neuroimaging should be considered in all children with new onset ataxia. Cerebrospinal fluid analysis has limited diagnostic specificity unless clinically indicated. Studies to examine neurophysiology testing did have sufficient evidence to support their use. There is insufficient evidence to establish a role for autoantibody testing or for routine screening for inborn error of metabolism in children presenting with acute ataxia. Finally, in a child presenting with ataxia and opsoclonus myoclonus, urine catecholamine testing for occult neuroblastoma is recommended. Nuclear scan may be considered, however, there is insufficient evidence for additional body imaging. 4
14. Salman MS, Chodirker BN, Bunge M. Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia. Can J Neurol Sci. 43(6):824-832, 2016 Nov. Review/Other-Dx 177 children To describe the neuroimaging features and the value of repeat neuroimaging in pediatric chronic ataxia to ascertain their contribution to the diagnosis and management. Nineteen patients had head computed tomography only, 103 brain magnetic resonance imaging only, and 55 had both. Abnormalities in the cerebellum or other brain regions were associated with ataxia. Neuroimaging was helpful in 73 patients with 30 disorders: It was diagnostic in 9 disorders, narrowed down the diagnostic possibilities in 14 disorders, and revealed important but non-diagnostic abnormalities, e.g. cerebellar atrophy in 7 disorders. Having a normal magnetic resonance imaging scan was mostly seen in genetic diseases or in the early course of ataxia telangiectasia. Repeat neuroimaging, performed in 108 patients, was generally helpful in monitoring disease evolution and in making a diagnosis. Neuroimaging was not directly helpful in 36 patients with 10 disorders or by definition the 55 patients with unknown disease etiology. 4
15. Ryan ME, Pruthi S, Desai NK, et al. ACR Appropriateness Criteria R Head Trauma-Child. Journal of the American College of Radiology. 17(5S):S125-S137, 2020 May. Review/Other-Dx N/A Evidence-based guidelines to assist referring physicians and other providers in making the most appropriate imaging or treatment decision for head trauma of achild. No results stated in abstract. 4
16. American College of Radiology. ACR–ASNR–SPR Practice Parameter for the Performance of Functional Magnetic Resonance Imaging (fMRI) of the Brain. Available at: https://www.acr.org/-/media/ACR/Files/Practice-Parameters/fMR-Brain.pdf. Review/Other-Dx N/A Guidance document to promote the safe and effective use of diagnostic and therapeutic radiology by describing specific training, skills and techniques. No abstract available. 4
17. American College of Radiology. ACR–ASNR–SPR Practice Parameter for the Performance of Magnetic Resonance Imaging (MRI) of the Pediatric Spine. Available at: https://www.acr.org/-/media/ACR/Files/Practice-Parameters/MRI-PedSpine.pdf. Review/Other-Dx N/A Guidance document to promote the safe and effective use of diagnostic and therapeutic radiology by describing specific training, skills and techniques. No abstract available. 4
18. Segal E, Schif A, Kasis I, Ravid S. Acute ataxia in children: Common causes and yield of diagnostic work-up in the era of varicella vaccination. J Clin Neurosci. 68:146-150, 2019 Oct. Observational-Dx 58 patients To identify the most common causes of acute ataxia in children in the era of widespread varicella vaccination and the yield of commonly used diagnostic work-up. A total of 58 patients (35 boys, 23 girls), mean age 4.9 ± 3.8 years, were enrolled. The most common etiology of acute ataxia in our studywas post-infectious acute cerebellar ataxia (50%). Children diagnosed with post-infectious acute cerebellar ataxia were significantly younger (3.48 ± 2.23 vs. 6.5 ± 3.1 years, p = 0.01), as compared with children diagnosed with infection and acute disseminated encephalomyelitis. 86% of children with post-infectious cerebellar ataxia were younger than 5 years of age. The abnormality yield of work-up studies performed in our cohort was 39% for lumbar puncture, 36% for EEG, 7% for CT scan. MRI was done in children who showed extra cerebellar signs, when vascular or demyelinating diseases were suspected and in children with prolonged symptoms and was abnormal in 8 (14%) children. 3
19. Garone G, Reale A, Vanacore N, et al. Acute ataxia in paediatric emergency departments: a multicentre Italian study. Arch Dis Child 2019;104:768-74. Observational-Dx 509 patients To evaluate the causes and management of acute ataxia (AA) in the paediatric emergency setting and to identify clinical features predictive of an underlying clinically urgent neurological pathology (CUNP). 509 patients (mean age 5.8 years) were included (0.021% of all ED attendances). The most common cause of AA was acute postinfectious cerebellar ataxia (APCA, 33.6%). Brain tumours were the second most common cause (11.2%), followed by migraine-related disorders (9%). Nine out of the 14 variables tested showed an OR >1. Among them, meningeal and focal neurological signs, hyporeflexia and ophthalmoplegia were significantly associated with a higher risk of CUNP (OR=3-7.7, p<0.05). Similarly, the odds of an underlying CUNP were increased by 51% by each day from onset of ataxia (OR=1.5, CI 1.1 to 1.2). Conversely, a history of varicella-zoster virus infection and vertigo resulted in a significantly lower risk of CUNP (OR=0.1 and OR=0.5, respectively; p<0.05). 3
20. Luetje M, Kannikeswaran N, Arora R, Wang B, Farooqi A, Sivaswamy L. Utility of Neuroimaging in Children Presenting to a Pediatric Emergency Department With Ataxia. Pediatr Emerg Care. 35(5):335-340, 2019 May. Review/Other-Dx 141 patients To evaluate the utility of neuroimaging in children who present to the pediatric emergency department with acute-/subacute-onset ataxia. The records of 141 subjects were analyzed. The most common causes of ataxia were infectious/postinfectious (36.2%) and ingestion (15.6%). Neuroimaging was performed in 104 children (73.8%). Neuroimaging was abnormal in 63 children (60.6%). However, these abnormalities were clinically significant in only 14 children (13.5%). Focal neurological findings were noted in 12 of 14 children (85.7%) with clinically significant neuroimaging. 4
21. Schneider T, Thomalla G, Goebell E, Piotrowski A, Yousem DM. Magnetic resonance imaging findings in patients presenting with (sub)acute cerebellar ataxia. Neuroradiology. 57(6):551-9, 2015 Jun. Review/Other-Dx 18 patients To discuss magnetic resonance imaging findings in patients presenting with (sub)acute cerebellar ataxia. An underlying etiology for ataxic symptoms were found in 14/18 patients (postinfectious/infectious, paraneoplastic, autoimmune, drug-induced). In two of five patients without MR imaging findings and three of eight patients with minimal imaging features (cerebellar atrophy, slight signal alterations, and small areas of restricted diffusion), adverse clinical outcomes were documented. Of the five patients with prominent MR findings (cerebellar swelling, contrast enhancement, or broad signal abnormalities), two were lost to follow-up and two showed long-term sequelae. 4
22. Prasad M, Ong MT, Setty G, Whitehouse WP. Fifteen-minute consultation: The child with acute ataxia. [Review]. Arch. dis. child., Educ. pract. ed.. 98(6):217-23, 2013 Dec. Review/Other-Dx N/A To present a diagnostic approach to a child presenting with acute ataxia and described various causes, their treatments and outcomes. No results stated in the abstract. 4
23. Kornreich L, Shkalim-Zemer V, Levinsky Y, Abdallah W, Ganelin-Cohen E, Straussberg R. Acute Cerebellitis in Children: A Many-Faceted Disease. J Child Neurol. 31(8):991-7, 2016 07. Review/Other-Dx 9 children (5 male, 4 female) To present our experience with acute cerebellitis in children, with a focus on the clinical and diagnostic factors, method of treatment, and outcome. The main presenting symptom was headache, and the main presenting sign was ataxia. Bilateral diffuse hemispheric involvement was the most common imaging finding at presentation. Mycoplasma pneumoniae was the most common infectious pathogen found. Treatment included steroids in all cases, antibiotics in 4, and intravenous immunoglobulins in 6. Six patients had a full recovery, and 3 had residual neurologic complications. Magnetic resonance imaging (MRI) is the modality of choice for diagnosis. The course of acute cerebellitis varies from a commonly benign and self-limiting disease to an occasionally fulminant disease, resulting in severe cerebellar damage or sudden death. 4
24. Thakkar K, Maricich SM, Alper G. Acute Ataxia in Childhood: 11-Year Experience at a Major Pediatric Neurology Referral Center. J Child Neurol. 31(9):1156-60, 2016 08. Review/Other-Dx 120 patients To characterize clinical features of postinfectious cerebellar ataxia and distinguish it from other causes of acute ataxia. Among the patients with post-infectious cerebellar ataxia, 85% were 1-6 years old and all had a history of antecedent viral illness. CSF pleocytosis was present in 40% of patients; all had normal brain MRIs. The majority (91%) recovered within 30 days. 4
25. Fogel BL.. Childhood cerebellar ataxia. [Review]. J Child Neurol. 27(9):1138-45, 2012 Sep. Review/Other-Dx N/A To outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children. No results stated in the abstract. 4
26. Rudloe T, Prabhu SP, Gorman MP, et al. The Yield of Neuroimaging in Children Presenting to the Emergency Department With Acute Ataxia in the Post-Varicella Vaccine Era. J Child Neurol. 30(10):1333-9, 2015 Sep. Observational-Dx 284 children To determine the yield of neuroimaging among children presenting to the emergency department with acute ataxia. Forty-two children had clinically urgent intracranial pathology (13%, 95% confidence interval 9%-17%); tumors and acute disseminated encephalomyelitis were the leading findings. Age =3 years and symptoms =3 days of duration were predictors of low risk (0.7%, 95% confidence interval 0%-4.4%). In conclusion, neuroimaging may be indicated for most patients presenting with acute ataxia. Neuroimaging may be deferred in younger children with short duration of symptoms contingent on close follow-up. 2
27. Rossi A, Martinetti C, Morana G, Severino M, Tortora D. Neuroimaging of Infectious and Inflammatory Diseases of the Pediatric Cerebellum and Brainstem. [Review]. Neuroimaging Clin N Am. 26(3):471-87, 2016 Aug. Review/Other-Dx N/A To discuss neuroimaging for the infectious and inflammatory diseases of the cerebellum and the brain in the pediatric age group. No abstract available. 4
28. Poretti A, Wolf NI, Boltshauser E. Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics. 46(6):359-70, 2015 Dec. Review/Other-Dx N/A To provide an update of checklists for postnatally acquired CA, unilateral CA, and hereditary CA. In addition, we include a list of disorders with ataxia as a symptom, but without CA. No results stated in the abstract. 4
29. Kieslich M, Hoche F, Reichenbach J, et al. Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum. 9(2):190-7, 2010 Jun. Review/Other-Dx 50 female patients To evaluate the effect of preoperative epidural analgesia on intraoperative haemodynamic and ventilatory parameters during laparoscopic hysterectomy using the non-invasive cardiac output with partial carbon dioxide rebreathing technique (NICO). The blood pressures in the epidural group were significantly lower than the control group immediately after the Trendelenburg position. Stroke volume, cardiac output, and cardiac index were significantly higher in the epidural group, than in the control group during the entire surgery. Dynamic compliances after gas exsufflation were significantly higher, and production of carbon dioxide was lower after pneumoperitoneum in the epidural group, than in the control group. Inthe epidural group, the postoperative pain scores and the additional analgesic requirements were significantly lower than in the control group. 4
30. Stence NV, Fenton LZ, Goldenberg NA, Armstrong-Wells J, Bernard TJ. Craniocervical arterial dissection in children: diagnosis and treatment. Curr Treat Options Neurol. 2011;13(6):636-648. Review/Other-Dx N/A Review diagnosis and treatment of craniocervical arterial dissection in children. No results stated in abstract. 4
31. Kadom N, Palasis S, Pruthi S, et al. ACR Appropriateness Criteria® Suspected Spine Trauma-Child. J Am Coll Radiol 2019;16:S286-S99. Review/Other-Dx N/A Evidence-based guidelines to assist referring physicians and other providers in making the most appropriate imaging or treatment decision for suspected spine trauma-child. No abstract available. 4
32. Poretti A, Limperopoulos C, Roulet-Perez E, et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol. 52(8):718-24, 2010 Aug. Review/Other-Dx 7 children (5 males, 2 females) To assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH). One child had abnormalities on prenatal MRI at 21 weeks' gestation. The left cerebellar hemisphere was affected in five children, and the right hemisphere in two children. The vermis was involved in five children. The volume of the posterior fossa was variable. At the latest follow-up, neurological findings included truncal ataxia and muscular hypotonia in five children, limb ataxia in three patients, and head nodding in two patients. Three children had learning disability*, five had speech and language disorders, and one had a severe behavioural disorder. 4
33. Zuccoli G, Panigrahy A, Bailey A, Fitz C. Redefining the Guillain-Barre spectrum in children: neuroimaging findings of cranial nerve involvement. AJNR Am J Neuroradiol. 32(4):639-42, 2011 Apr. Review/Other-Dx 17 children To review the MR imaging findings of polyneuropathy in children affected by either Guillain-Barre´ Spectrum (GBS) or the Miller Fishersyndrome (MFS) variant and to assess whether these diagnoses constitute a clinical-neuroradiologic spectrum. Fourteen of our 17 patients demonstrated CE enhancement, with predominant involvement of the anterior roots. Of 6 patients who underwent MR imaging of the brain, 5 had cranial nerve involvement. In children affected by GBS-MFS, involvement of the CE roots may be considered part of a more extensive autoimmune neuropathy, as demonstrated by enhancement of cranial nerves. 4
34. Salman MS, Klassen SF, Johnston JL. Recurrent Ataxia in Children and Adolescents. Can J Neurol Sci. 44(4):375-383, 2017 Jul. Review/Other-Dx 185 children To systematically describe the epidemiology, clinical findings, investigations, and management in a cohort of pediatric patients with recurrent ataxia. Recurrent ataxia was reported in 21 patients. Their age range was between 6 and 32.75 years (males=12). The crude period prevalence rate for the 18-year study period was 7.44/100,000. Eight patients had episodic ataxia and seven had inflammatory and metabolic disorders. In the rest the etiology was unknown. Many patients presented with ataxia, dizziness, and vertigo. The frequency and duration of the ataxic episodes varied from several per day to one every few months. Other clinical features included developmental delay and seizures. Neuroimaging in episodic ataxia was normal and abnormal in inflammatory or metabolic disorders. Acetazolamide provided symptomatic relief in patients with episodic ataxia, while steroids were beneficial in patients with an inflammatory etiology. One child with a metabolic disorder died. 4
35. Kipfer S, Strupp M. The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias. Mov Disord Clin Pract 2014;1:285-90. Review/Other-Dx N/A To review the historical, clinical, and genetic aspects of autosomal-dominant episodic ataxias (EAs) and their current treatment, focusing on EA 1 and 2. No results stated in the abstract. 4
36. Dhawan SR, Saini AG, Vyas S, Attri SV. Teaching NeuroImages: When MRI is a clue in episodic ataxia. Neurology 2019;93:e2074-e75. Observational-Dx 313 patients To evaluate the health-related quality of life (HRQoL) of Malaysian patients with type 2 diabetes mellitus (T2DM) who have cardiovascular disease (CVD), as well as identify the determinants of HRQoL among this cohort of patients. T2DM patients with CVD were found to have significantly lower 15D HRQoL scores than their non-CVD counterparts (p < 0.001). The HRQoL of T2DM patients with CVD was significantly lower than those without CVD (p < 0.05) in all of the 15 dimensions of the 15D instrument. Multinomial logistic regression analysis using backward stepwise method revealed a significant association between CVD and impaired HRQoL (odds ratio [OR] 11.746, 95% confidence interval [CI] 4.898–28.167). Age (OR 1.095, 95% CI 1.054–1.137), duration of T2DM (OR 1.085, 95% CI 1.032–1.140), ethnicity (OR 0.411, 95% CI 0.187–0.903), body mass index (OR 1.074, 95% CI 1.006–1.148), and physical activity level (OR 3.506, 95% CI 1.415–8.689) were also significant predictors of HRQoL. 3
37. Debray FG, Lambert M, Gagne R, et al. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics 2008;39:20-3. Review/Other-Dx 2 children To report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) Both patients had PDH defi ciency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine. Although this mutation lies within the thiamine pyrophosphate binding domain, there was no thiamine responsiveness in vivo . The patients presented recurrent episodes of acute isolated ataxia in infancy. Both had normal blood and CSF lactate levels. Although symptoms initially resolved between episodes during the fi rst decade, both patients subsequently worsened and developed progressive and severe encephalopathy, leading to death in their twenties. The spectrum of intermittent presentations in PDH defi ciency includes episodic ataxia, intermittent peripheral weakness, recurrent dystonia and extrapyramidal movement disorders. 4
38. Jost GF, Dailey AT. Bow hunter's syndrome revisited: 2 new cases and literature review of 124 cases. Neurosurg Focus 2015;38:E7. Review/Other-Dx 2 pediatric children, 3 adolescents, 121 adults To review 124 cases reported in the English literature from 1952 to 2011 along with 2 new cases from our own experience summarizes patient characteristics, symptoms, surgical strategies, and outcomes for patients with the rare Bow hunter's syndrome of recurrent vertebrobasilar insufficiency that can be cured with spine surgery. Both patients in the new cases were treated by VA decompression and fusion of the subaxial spine. Each had > 50% occlusion of the left VA at the point of entry into the transverse foramen with a contralateral VA that ended in the posterior inferior cerebellar artery. Analyzing data from 126 cases (the 2 new cases in addition to the previously published 124), the authors report that stenosis was noted within V1 in 4% of cases, in V2 in 58%, in V3 in 36%, and distal to C-1 in 2%. Patients presented in the 5th to 7th decade of life and were more often male than female. The stenotic area was decompressed in 85 (73%) of the 116 patients for whom the type of treatment was reported (V1, 4 [80%] of 5; V2, 52 [83%] of 63; V3/V4, 29 [60%] of 48). Less commonly, fusion or combined decompression and fusion was used (V2, 7 [11%] of 63; V3/V4, 14 [29%] of 48). Most patients reported complete resolution of symptoms. 4
39. Prodi E, Grisoli M, Panzeri M, et al. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol. 20(1):138-46, 2013 Jan. Review/Other-Dx 14 patients To report a large series of Italian ARSACS patients with novel SACS mutations, typical and variant clinical presentations, and distinctive MRI features widening previous observations on ARSACS neuroradiological phenotype. We found 16 novel SACS gene mutations, including a large in-frame deletion. The age at onset was in infancy, but one patient presented the first symptoms at age 32. Progression of the disease was variable, and increased muscle tone was mostly recognized in later stages. Structural MRI showed atrophy of the superior cerebellar vermis, a bulky pons exhibiting T2-hypointense stripes, identified as the corticospinal tract (CST), thinning of the corpus callosum and a rim of T2-hyperintensity around the thalami in 100% of cases. The presence of iron or other paramagnetic substances was excluded. Diffusion tensor imaging (DTI) revealed grossly over-represented transverse pontine fibres (TPF), which prevented reconstruction of the CST at this level (100% of cases). In all patients, significant microstructural alterations were found in the supratentorial white matter of forceps, cingulum and superior longitudinal fasciculus. 4
40. Boddaert N, Desguerre I, Bahi-Buisson N, et al. Posterior fossa imaging in 158 children with ataxia. J Neuroradiol. 37(4):220-30, 2010 Oct. Review/Other-Dx 158 patients To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia. In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated genes (AHI1 (JBS3), CEP290 (JBS5), TMEM67 (JBS6), and RPGRIP1L (JBS7)) are involved in primary cilia function. In the group of pontocerebellar hypoplasia specific genetic diagnosis was obtained in one patient (PCH2) (1/15). Thus, nine of 42 children classified as malformative disorder had a molecular diagnosis. Global atrophy and signal abnormality groups were classified as metabolic disorders, specific biochemical was obtained in 46/95 children. In global atrophy group, respiratory chain deficiency was diagnosed in 18 children (18/84). In 21 children a congenital disorders of glycosylation type 1a (CDG Ia) was diagnosed (21/84) and infantile neuroaxonale dystrophy (INAD) was diagnosed in one child. In signal abnormalities group, specific biochemical diagnosis was obtained in six out of 11 children, five children with respiratory chain deficiency and one child with sulphite oxidase deficiency. In hemispheric cerebellar dysgenesis and normal MRI groups, no biological diagnosis was found for any of the patients. In the group of unilateral hemispheric atrophy, we hypothesized a clastic prenatal injury. 4
41. Jacobi H, Hauser TK, Giunti P, et al. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum. 11(1):155-66, 2012 Mar. Observational-Dx 526 patients To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs). The SARA subscores posture and gait (items 1–3), speech (item 4) and the limb kinetic subscore (items 5–8) did not differ between the genotypes. The scores of SARA item 3 (sitting), 5 (finger chase) and 6 (nose–finger test) differed between the subtypes whereas the scores of the remaining items were not different. In SCA1, ataxia symptoms were correlated with brainstem atrophy and in SCA3 with both brainstem and cerebellar atrophy. Cerebellar oculomotor deficits were most frequent in SCA6 followed by SCA3, whereas these abnormalities were less frequent in SCA1 and SCA2. Our data suggest that vestibulocerebellar, spinocerebellar and pontocerebellar circuits in SCA1, SCA2, SCA3 and SCA6 are functionally impaired to almost the same degree, but at different anatomical levels. 3
42. Adanyeguh IM, Perlbarg V, Henry PG, et al. Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes. Neuroimage (Amst). 19:858-867, 2018. Observational-Dx 81 patients To critically identify biomarkers of disease progression with effect sizes greater than clinical scores, enabling trials with smaller sample sizes as gene-based therapies may soon arise for patients with spinocerebellar ataxia (SCA). Clinical scores worsened as atrophy increased over time (p?<?0.05). However, atrophy of cerebellum and pons showed very large effect sizes (>1.2) compared to clinical scores (<0.8). FBA, applied for the first time to SCA, was sensitive to microstructural cross-sectional differences that were not captured by conventional DTI metrics, especially in the less studied SCA7 group. FBA also showed larger effect sizes than DTI metrics. 3
43. Blaser SI, Steinlin M, Al-Maawali A, Yoon G. The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach. [Review]. Neuroimaging Clin N Am. 26(3):373-416, 2016 Aug. Review/Other-Dx N/A Inherited neurodegenerative disorders resulting from genetic and inborn biochemical defects can affect the cerebellum at any time, either during development and maturation or later in life. No abstract available. 4
44. Perucca G, Leboucq N, Roubertie A, et al. Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood. [Review]. J Neuroradiol. 43(3):176-85, 2016 Jun. Review/Other-Dx 23 patients To yield the main reports of neuroimaging patterns and diagnostic algorithms and compare them with the results from our study of 23 young patients addressed for ataxia, with subsequent genetic or metabolic diagnosis. No results stated in the abstract. 4
45. Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 27(9):1121-32, 2012 Sep. Review/Other-Dx 300 patients We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. 4
46. 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. 49(1):158-68, 2010 Jan 01. 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
47. Alves CAPF, Fragoso DC, Goncalves FG, Marussi VH, Amaral LLFD. Cerebellar Ataxia in Children: A Clinical and MRI Approach to the Differential Diagnosis. [Review]. Top Magn Reson Imaging. 27(4):275-302, 2018 Aug. Review/Other-Dx N/A To outline an update of causes of cerebellar disorders that present clinically with ataxia in the pediatric population. No results stated in the abstract. 4
48. Adanyeguh IM, Henry PG, Nguyen TM, et al. In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7. Mov Disord 2015;30:662-70. Observational-Dx 16 patients To identify in vivo metabolic biomarkers in a large cohort of patients with Spinocerebellar ataxias (SCAs) SCA1, SCA2, SCA3 and SCA7 on a 3 Tesla magnetic resonance (MR) system commonly used in hospitals. Compared to controls, patients displayed lower total N-acetylaspartate and, to a lesser extent, lower glutamate, reflecting neuronal loss/dysfunction, while the glial marker, myo-inositol, was elevated. Patients also showed higher total creatine as reported in Huntington disease, another polyglutamine repeat disorder. There was a strong correlation between the Scale for the Assessment and Rating of Ataxia and the neurometabolites in both affected regions of patients. Principal component analyses confirmed that neuronal metabolites (total N-acetylaspartate and glutamate) were inversely correlated in the vermis and the pons to glial (myo-inositol) and energetic (total creatine) metabolites, as well as to disease severity (motor scales). Neurochemical plots with selected metabolites also allowed the separation of SCA2 and SCA3 from controls. 2
49. Bertini E, Zanni G, Boltshauser E. Nonprogressive congenital ataxias. [Review]. Handb. clin. neurol.. 155:91-103, 2018. Review/Other-Dx N/A To focus on the still rather short list of dominant and recessive genes associated with nonprogressive congenital ataxia (NPCA) identified in the last few years. No results stated in the abstract. 4
50. Teive HA, Ashizawa T. Primary and secondary ataxias. Curr Opin Neurol 2015;28:413-22. Review/Other-Tx N/A To discuss recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal dominant, episodic, X-linked, and mitochondrial ataxias, as well as idiopathic degenerative and secondary ataxias. No results stated in the abstract. 4
51. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008;12:155-67. Observational-Dx N/A To evaluate the differential diagnosis of cerebellar atrophy during childhood. No results stated in the abstract. 4
52. Oh ME, Driever PH, Khajuria RK, et al. DTI fiber tractography of cerebro-cerebellar pathways and clinical evaluation of ataxia in childhood posterior fossa tumor survivors. J Neurooncol. 131(2):267-276, 2017 01. Observational-Dx 39 patients To visualize Cerebello-Thalamo-Cerebral (CTC) and Cerebro-Ponto-Cerebellar (CPC) pathways in childhood posterior fossa (PF) tumor survivors using diffusion tensor imaging (DTI) fiber tractography in a cross-sectional study from magnetic resonance imaging (MRI) data obtained for surveillance. ICARS scores were significantly higher in MB patients than in PA patients. Poorer ICARS scores and impaired fine motor function correlated significantlywith volume loss of CTC pathway in MB patients, but not in PA patients. Patients with pediatric post-operative cerebellar mutism syndrome showed higher loss of CTC pathway volume and were more atactic. CPC pathway volume was significantly reduced in PA patients, but not in MB patients. Neither relationship was observed between the CPC pathway and ICARS or fine motor function. There was no group difference of FA values between the patients and healthy peers. Reduced CTC pathway volumes in our cohorts were associated with severity of long-term ataxia and impaired fine motor function in survivors of MBs. 3
53. 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
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