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Glutamine Repeats and Neurodegeneration

Zoghbi, Huda Y., Orr, Harry T.·2000·Annual Review of Neuroscience
DOI 10.1146/annurev.neuro.23.1.217
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Abstract

A growing number of neurodegenerative diseases have been found to result from the expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have focused on identifying the mechanism by which the expanded polyglutamine tract renders a protein toxic to a subset of vulnerable neurons. In this review, we summarize the clinicopathologic features of these disorders (spinobulbar muscular atrophy, Huntington disease, and the spinocerebellar ataxias, including dentatorubropallidoluysian atrophy), describe the genes involved and what is known about their products, and discuss the model systems that have lent insight into pathogenesis. The review concludes with a model for pathogenesis that illuminates the unifying features of these polyglutamine disorders. This model may prove relevant to other neurodegenerative disorders as well.

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Metadata

Authors
Zoghbi, H. Y., & Orr, H. T.
Venue
Annual Review of Neuroscience
Publisher
Annual Reviews
Published
2000-03
Volume
23
Issue
1
Pages
217-247
ISSN
  • 0147-006X (ISSN-L)
  • 1545-4126
DOI
10.1146/annurev.neuro.23.1.217
OpenAlex
W2113998330
Cited by
1,309
References
4
FWCI
4.16
Type
journal article
Language
en
Open access
closed

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Glutamine Repeats and Neurodegeneration. https://app.cochat.ai/papers/10.1146/annurev.neuro.23.1.217
The paper
Zoghbi, H. Y., & Orr, H. T. (2000). Glutamine Repeats and Neurodegeneration. Annual Review of Neuroscience. https://doi.org/10.1146/annurev.neuro.23.1.217

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.