Article
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
Brain : a journal of neurology - 1 Mar 1998
Giunti P, Sabbadini G, Sweeney M G, Davis M B, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood N W
Abstract excerpt
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation. The identification of the SCA2 mutation in 31 out of 38 families with the ADCA...
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