Why is SCA12 different from other SCAs?

Abstract:

:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain MRIs also suggest variability, with prominent cortical as well as cerebellar atrophy. Genetically, SCA12 is caused by a CAG repeat expansion that does not encode polyglutamine; we speculate that the mutation may affect expression of the gene PPP2R2B, which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A.

journal_name

Cytogenet Genome Res

authors

Holmes SE,O'Hearn E,Margolis RL

doi

10.1159/000072854

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

189-97

issue

1-4

eissn

1424-8581

issn

1424-859X

pii

72854

journal_volume

100

pub_type

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