Article (Scientific journals)
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.
Gispert, Suzana; Kurz, Alexander; Waibel, Stefan et al.
2012In Neurobiology of Disease, 45 (1), p. 356-61
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Keywords :
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
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
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 ;  University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
Riess, Olaf
Ludolph, Albert C.
Auburger, Georg
More authors (5 more) Less
Language :
English
Title :
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.
Publication date :
2012
Journal title :
Neurobiology of Disease
ISSN :
1095-953X
Publisher :
Elsevier, Atlanta, United States - California
Volume :
45
Issue :
1
Pages :
356-61
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2011 Elsevier Inc. All rights reserved.
Available on ORBilu :
since 02 July 2014

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