BIP! Finder - The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect

2012 • The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect

Authors: 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; Riess, Olaf; Ludolph, Albert C.; Auburger, Georg

Venue: Neurobiology of Disease

Type: Publication

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 5... (read more)

Impact:

1.02565165E-8 5.2379296E-9 67 35

/ Attention: 0 21

Topics: Neuroscience

DOI: 10.1016/j.nbd.2011.08.021

External links: Crossref OpenAIRE

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