Article
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.
PloS one - 1 Jan 2012
Lahut Suna, Ömür Özgür, Uyan Özgün, Ağım Zeynep Sena, Özoğuz Aslihan, Parman Yeşim, Deymeer Feza, Oflazer Piraye, Koç Filiz, Özçelik Hilmi, Auburger Georg, Başak A Nazlı
Abstract excerpt
Expansions of the polyglutamine (polyQ) domain (≥ 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27-33) expansions increase the risk of Amyotrophic Lateral Sclerosis (ALS) in 1-4% of cases in diverse populations. This study investigates the Turkish population with respect to ALS risk, genotyping 158 sporadic, 78 familial...
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