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The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect

Gispert, Suzana and Kurz, Alexander and Waibel, Stefan and Bauer, Peter and Liepelt, Inga and Geisen, Christof and Gitler, Aaron D. and Becker, Tim and Weber, Markus and Berg, Daniela and Andersen, Peter M. and Krüger, Rejko and Riess, Olaf and Ludolph, Albert C. and Auburger, Georg. (2012) The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiology of disease, Vol. 45, no. 1. pp. 356-361.

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Official URL: http://edoc.unibas.ch/dok/A6006007

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Abstract

Full expansions of the polyglutamine domain (polyQ?34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease. Intermediate expansions (27?polyQ?33) were reported to modify the risk of Amyotrophic Lateral Sclerosis (ALS). We have now tested the reproducibility and the specificity of this observation. In 559 independent ALS patients from Central Europe, the association of ATXN2 expansions (30?polyQ?35) with ALS was highly significant. The study of 1490 patients with Parkinson's disease (PD) showed an enrichment of ATXN2 alleles 27/28 in a subgroup with familial cases, but the overall risk of sporadic PD was unchanged. No association was found between polyQ expansions in Ataxin-3 (ATXN3) and ALS risk. These data indicate a specific interaction between ATXN2 expansions and the causes of ALS, possibly through altered RNA-processing as a common pathogenic factor.
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:Elsevier
ISSN:0969-9961
Note:Publication type according to Uni Basel Research Database: Journal article
Last Modified:13 Sep 2013 07:49
Deposited On:26 Apr 2013 07:00

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