Article
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.
Neurobiology of disease - 1 Jan 2012
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
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.