Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

摘要: Summary Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that known as spinocerebellar (SCA) in genetic nomenclature. In the pregenomic era, were some of most poorly understood neurological disorders; unravelling their molecular basis enabled precise diagnosis vivo and explained many clinical phenomena such anticipation variable phenotypes even within one family. However, discovery ataxia genes loci past decade threatens to cause more confusion than optimism among clinicians. Therefore, provision guidance for testing according findings frequencies SCA subtypes different ethnic groups is a major challenge. The identification raises hope essential pathogenetic mechanisms causing will become apparent. Elucidation pathogenesis hopefully enable development rational therapies this group disorders, which currently can only be treated symptomatically.