Polyglutamine spinocerebellar ataxias-from genes to potential treatments

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

doi:10.1038/nrn.2017.92

Polyglutamine spinocerebellar ataxias-from genes to potential treatments

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

Research output: Contribution to journal › Review article › peer-review

269 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	613-626
Number of pages	14
Journal	Nature Reviews Neuroscience
Volume	18
Issue number	10
DOIs	https://doi.org/10.1038/nrn.2017.92
State	Published - Sep 19 2017

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420820

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abstract = "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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Polyglutamine spinocerebellar ataxias-from genes to potential treatments

Abstract

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