ملخص
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.
اللغة الأصلية | English |
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الصفحات (من إلى) | 1121-1132 |
عدد الصفحات | 12 |
دورية | Journal of Child Neurology |
مستوى الصوت | 27 |
رقم الإصدار | 9 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - سبتمبر 2012 |
منشور خارجيًا | نعم |
ASJC Scopus subject areas
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