Article
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
Human molecular genetics - 22 Jul 2000
Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum L P, Pulst S M, Rouleau G A
Abstract excerpt
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the expansion of a polymorphic (CAG)(n) tract, which is translated into an expanded polyglutamine tract in the ataxin-2 protein. Although repeat length and age at disease onset are inversely related, approximately 50% of the age at onset variance in SCA2 remains unexplained. Other familial factors have been proposed to account for at...
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