Article
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
The Lancet. Neurology - 1 May 2004
Schöls Ludger, Bauer Peter, Schmidt Thorsten, Schulte Thorsten, Riess Olaf
Abstract excerpt
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, ataxias were some of the most poorly understood neurological disorders; the unravelling of their molecular basis enabled precise diagnosis in vivo and explained many clinical phenomena such as anticipation and variable phenotypes even...
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