Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
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Abstract
Objective: Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS.
Methods: We assessed the polyQ lengths of ataxin 1, ataxin 3, ataxin 6, ataxin 7, TBP, atrophin 1, and huntingtin in several hundred patients with sporadic ALS and healthy controls.
Results: Other than ataxin 2, we did not identify a significant association with the other polyQ genes and ALS.
Conclusions: These data indicate that the effects of ataxin 2 polyQ expansions on ALS risk are likely to be rooted in the biology of ataxin 2 or ataxin 2-specific interactions, rather than the presence of an expanded polyQ repeat per se. These findings have important consequences for understanding the role of ataxin 2 in ALS pathogenesis and provide a framework for future mechanistic studies.
Footnotes
Study funding: Supported by NIH Director's New Innovator Award 1DP2OD004417 (A.D.G.), NIH grants 1R01NS065317 (A.D.G.) and P01-AG-09215 (N.M.B.), and a grant from the Robert Packard Center for ALS Research at Johns Hopkins (A.D.G.). A.D.G. is a Pew Scholar in the Biomedical Sciences, supported by The Pew Charitable Trusts. N.M.B. is an Investigator of the Howard Hughes Medical Institute. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Editorial, page 2050
See page 2066
Supplemental data at www.neurology.org.
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- ALS
- amyotrophic lateral sclerosis
- polyQ
- polyglutamine
- SCA
- spinocerebellar ataxia
- Received October 6, 2010.
- Accepted January 3, 2011.
- Copyright © 2011 by AAN Enterprises, Inc.
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