Spinocerebellar Ataxias and Ataxins
- 16 November 1995
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 333 (20) , 1351-1353
- https://doi.org/10.1056/nejm199511163332011
Abstract
Neurology textbooks are replete with descriptions of clinical syndromes of ataxia due to various forms of spinocerebellar degeneration. The most common autosomal recessive type, Friedreich's ataxia, was described in 1876, and the most prevalent dominant ataxic syndrome, olivopontocerebellar atrophy, in 1882. Since then, neurologists have written extensively about various classifications of ataxia and related problems and the uniqueness of newly evaluated families with inherited spinal and cerebellar disease. Classifications based on clinical phenotype abound, but bringing order and clarity to the biochemical and genetic bases for them has proved difficult. A major reason has been the lack of information on . . .Keywords
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