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. 2011 May 1;20(9):1697-700.
doi: 10.1093/hmg/ddr045. Epub 2011 Feb 3.

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

Teresa Lee  1 , Yun R Li, Caroline Ingre, Markus Weber, Torsten Grehl, Ole Gredal, Mamede de Carvalho, Thomas Meyer, Ole-Björn Tysnes, Georg Auburger, Suzana Gispert, Nancy M Bonini, Peter M Andersen, Aaron D Gitler
Affiliations

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

Teresa Lee et al. Hum Mol Genet. .

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansions (27-33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. To extend these findings, we assessed the ataxin 2 polyQ repeat length in 1294 European ALS patients and 679 matched healthy controls. We observed a significant association between polyQ expansions and ALS (>30 Qs; P= 6.2 × 10(-3)). Thus, intermediate-length ataxin 2 polyQ repeat expansions are associated with increased risk for ALS also in the European cohort. The specific polyQ length cutoff, however, appears to vary between different populations, with longer repeat lengths showing a clear association. Our findings support the hypothesis that ataxin 2 plays an important role in predisposing to ALS and that polyQ expansions in ataxin 2 are a significant risk factor for the disease.

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Figures

Figure 1.
Figure 1.
Distribution of ataxin 2 polyQ repeat lengths in ALS patients and healthy controls. Compared with controls, there was a greater number of ALS cases with polyQ repeats >30 (Fisher's exact test, P= 6.2 × 10−3).
See this image and copyright information in PMC

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