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Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

Paulson, Henry L; Shakkottai, Vikram G; Clark, H Brent; Orr, Harry T.
Nat Rev Neurosci; 18(10): 613-626, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28855740
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.
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