edoc

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

Lee, Teresa and Li, Yun R. and Ingre, Caroline and Weber, Markus and Grehl, Torsten and Gredal, Ole and de Carvalho, Mamede and Meyer, Thomas and Tysnes, Ole-Björn and Auburger, Georg and Gispert, Suzana and Bonini, Nancy M. and Andersen, Peter M. and Gitler, Aaron D.. (2011) Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Human molecular genetics, Vol. 20, H. 9. pp. 1697-1700.

Full text not available from this repository.

Official URL: http://edoc.unibas.ch/dok/A6005472

Downloads: Statistics Overview

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.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Neurologie
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Neurologie
UniBasel Contributors:Weber, Markus
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Oxford Univ. Press
ISSN:0964-6906
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:27 Mar 2014 13:13
Deposited On:27 Mar 2014 13:13

Repository Staff Only: item control page