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Hum Mol Genet. 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.

Author information

1
Department of Cell and Developmental Biology, the University of Pennsylvania School of Medicine, 1109 BRB II/III, 421 Curie Blvd., Philadelphia, PA 19104, USA.

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.

PMID:
21292779
PMCID:
PMC3071667
DOI:
10.1093/hmg/ddr045
[Indexed for MEDLINE]
Free PMC Article

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