Document Detail

The SCA12 mutation as a rare cause of spinocerebellar ataxia.
MedLine Citation:
PMID:  11708992     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Spinocerebellar ataxias are a group of phenotypically and genetically heterogeneous disorders characterized by progressive degeneration of the cerebellum. The expansion of a CAG repeat upstream of the PP2APR55beta gene has been recently reported as a novel cause of a dominantly inherited ataxia (SCA12) in a kindred with limb tremor as an early feature. OBJECTIVE: To explore the relative frequency of SCA12 among familial and sporadic spinocerebellar ataxias in an ethnically diverse patient population. METHODS: We used polymerase chain reaction to analyze CAG repeat size in a series of patients presenting to an ataxia clinic in California. RESULTS: The SCA12 expansion was not detected in any of the cases investigated. The largest allele found had 22 repeats, a finding within the proposed nonpathogenic range. Distribution of repeat size and heterozygosity were similar to that described previously. CONCLUSIONS: These results, coupled with findings in other populations, indicate that the SCA12 mutation is a rare cause of spinocerebellar degeneration. Diagnostic testing for SCA12 should be considered in patients with cerebellum disorders and an atypical clinical phenotype, especially when tremor is initially present.
J A Cholfin; M J Sobrido; S Perlman; S M Pulst; D H Geschwind
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of neurology     Volume:  58     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-11-15     Completed Date:  2001-12-07     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1833-5     Citation Subset:  AIM; IM    
Department of Neurology, University of California, Los Angeles School of Medicine, USA.
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MeSH Terms
Genetic Predisposition to Disease*
Genetic Testing
Phosphoprotein Phosphatases / genetics
Spinocerebellar Ataxias / classification,  etiology,  genetics*
Trinucleotide Repeat Expansion / genetics*
Grant Support
Reg. No./Substance:
EC Phosphatases

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