Hereditary ataxias: overview

摘要: The hereditary ataxias are a highly heterogeneous group of disorders phenotypically characterized by gait ataxia, incoordination eye movements, speech, and hand usually associated with atrophy the cerebellum. There more than 35 autosomal dominant types frequently termed spinocerebellar ataxia typically having adult onset. most common subtypes 1, 2, 3, 6, 7, all which nucleotide repeat expansion disorders. Autosomal recessive have onset in childhood; -Friedreich, ataxia-telangiectasia, oculomotor apraxia type 2. Four dietary or biochemical treatment modalities (ataxia vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, coenzyme Q10 deficiency), whereas there no specific treatments for other ataxias. Diagnostic genetic testing is complicated because large number relatively uncommon extensive phenotypic overlap. However, best strategy based on assessing relative frequencies, ethnic predilections, recognition features such as seizures, visual loss, movement abnormalities.