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

Publikation

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

Wissenschaftlicher Artikel/Review - 03.02.2011

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

Zitation

Lee T, Andersen P, Bonini N, Gispert S, Auburger G, Tysnes O, Meyer T, de Carvalho M, Gredal O, Grehl T, Weber M, Ingre C, Li Y, Gitler A. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 2011; 20:1697-700.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Hum Mol Genet 2011; 20

Veröffentlichungsdatum

03.02.2011

eISSN (Online)

1460-2083

Seiten

1697-700

Kurzbeschreibung/Zielsetzung

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.