Journal
JOURNAL OF CHILD NEUROLOGY
Volume 27, Issue 9, Pages 1121-1132Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812448680
Keywords
ataxia; cerebellar atrophy; diagnosis; genetics; ceroid lipofuscinosis; mitochondrial; gangliosidosis; telangiectasia
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Funding
- Rare Disease Foundation
- BC Children's Hospital Foundation
- National Institutes of Health [2R13NS040925-14 Revised]
- National Institutes of Health Office of Rare Diseases Research
- Child Neurology Society
- National Ataxia Foundation
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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.
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