[The genetics of spinocerebellar ataxias].
Bonn, Germany. In Nervenarzt, 2013
In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28.
Spinocerebellar ataxia type 5.
Minneapolis, United States. In Handb Clin Neurol, 2011
This review summarizes data showing that beta-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins.
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
Spectrin mutations cause spinocerebellar ataxia type 5.
Minneapolis, United States. In Nat Genet, 2006
beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families.