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 article

64 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)613-626
Number of pages14
JournalNature Reviews Neuroscience
Volume18
Issue number10
DOIs
StatePublished - Sep 19 2017

Fingerprint

Spinocerebellar Ataxias
Genes
Neurodegenerative Diseases
Glutamine
polyglutamine

Cite this

Polyglutamine spinocerebellar ataxias-from genes to potential treatments. / Paulson, Henry L.; Shakkottai, Vikram G.; Clark, H. Brent; Orr, Harry T.

In: Nature Reviews Neuroscience, Vol. 18, No. 10, 19.09.2017, p. 613-626.

Research output: Contribution to journalReview article

Paulson, Henry L. ; Shakkottai, Vikram G. ; Clark, H. Brent ; Orr, Harry T. / Polyglutamine spinocerebellar ataxias-from genes to potential treatments. In: Nature Reviews Neuroscience. 2017 ; Vol. 18, No. 10. pp. 613-626.
@article{3bdbee4b70aa4e49a864a4eb63dba53e,
title = "Polyglutamine spinocerebellar ataxias-from genes to potential treatments",
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.",
author = "Paulson, {Henry L.} and Shakkottai, {Vikram G.} and Clark, {H. Brent} and Orr, {Harry T}",
year = "2017",
month = "9",
day = "19",
doi = "10.1038/nrn.2017.92",
language = "English (US)",
volume = "18",
pages = "613--626",
journal = "Nature Reviews Neuroscience",
issn = "1471-003X",
publisher = "Nature Publishing Group",
number = "10",

}

TY - JOUR

T1 - Polyglutamine spinocerebellar ataxias-from genes to potential treatments

AU - Paulson, Henry L.

AU - Shakkottai, Vikram G.

AU - Clark, H. Brent

AU - Orr, Harry T

PY - 2017/9/19

Y1 - 2017/9/19

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85030621799&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85030621799&partnerID=8YFLogxK

U2 - 10.1038/nrn.2017.92

DO - 10.1038/nrn.2017.92

M3 - Review article

C2 - 28855740

AN - SCOPUS:85030621799

VL - 18

SP - 613

EP - 626

JO - Nature Reviews Neuroscience

JF - Nature Reviews Neuroscience

SN - 1471-003X

IS - 10

ER -