title: Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.
abstract: Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. 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. 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.
authors: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors: Almundher
authors: A
authors: Al-Maawali
authors: Susan
authors: S
authors: Blaser
authors: Grace
authors: G
authors: Yoon
mesh_terms: D000293:Adolescent; D001284:Atrophy / Q000175:diagnosis / Q000209:etiology; D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis*; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020143:Gangliosidoses, GM2; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications; D012189:Retrospective Studies