Reference : The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglu...
Scientific journals : Article
Life sciences : Genetics & genetic processes
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.
Gispert, Suzana [> >]
Kurz, Alexander [> >]
Waibel, Stefan [> >]
Bauer, Peter [> >]
Liepelt, Inga [> >]
Geisen, Christof [> >]
Gitler, Aaron D. [> >]
Becker, Tim [> >]
Weber, Markus [> >]
Berg, Daniela [> >]
Andersen, Peter M. [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Riess, Olaf [> >]
Ludolph, Albert C. [> >]
Auburger, Georg [> >]
Neurobiology of Disease
Yes (verified by ORBilu)
United States
[en] Adult ; Aged ; Alleles ; Amyotrophic Lateral Sclerosis/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins/genetics ; Peptides/genetics ; Reproducibility of Results ; Trinucleotide Repeat Expansion
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Copyright (c) 2011 Elsevier Inc. All rights reserved.

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