Polyglutamine spinocerebellar ataxias-from genes to potential treatments

Henry L. Paulson, Vikram G. Shakkottai, H. Brent Clark, Harry T. Orr

Research output: Contribution to journalReview articlepeer-review

158 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)613-626
Number of pages14
JournalNature Reviews Neuroscience
Issue number10
StatePublished - Sep 19 2017

Bibliographical note

Funding Information:
The authors thank J. Friedrich for designing the artwork that formed the foundation for the figures in this Review. Financial support for the authors’ research was provided by the US National Institute of Neurological Disorders and Stroke, the US National Institutes of Health and the US National Ataxia Foundation.

Publisher Copyright:
© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.


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