Authors: Suzana, Gispert, Alexander, Kurz, Stefan, Waibel, Peter, Bauer, Inga, Liepelt, Christof, Geisen, Aaron D, Gitler, Tim, Becker, Markus, Weber, Daniela, Berg, Peter M, Andersen, Rejko, Krüger, Olaf, Riess, Albert C, Ludolph, Georg, Auburger
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...
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Topics: 
Neuroscience
Internal medicine
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