Document Detail

Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2.
MedLine Citation:
PMID:  10525984     Owner:  NLM     Status:  MEDLINE    
Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1. We analyzed CAG repeat size of the SCA2 allele in two deceased patients (father and daughter) to investigate the repeat mosaicism in CNS regions. The CAG repeat size was examined using lymphoblastoid cell lines, frozen brain tissues, and paraffin-embedded tissues. In each patient the major repeat size of the expanded allele varied within the brain or spinal cord (father, 39-42; daughter, 39-47 repeats), and was smaller by three to eight repeats in the cerebellum than in other CNS regions. Our results are in agreement with the findings in other polyglutamine disorders showing somatic mosaicism.
T Matsuura; H Sasaki; I Yabe; K Hamada; T Hamada; M Shitara; K Tashiro
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of neurology     Volume:  246     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  1999 Sep 
Date Detail:
Created Date:  1999-12-02     Completed Date:  1999-12-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  835-9     Citation Subset:  IM    
Department of Neurology, Hokkaido University School of Medicine, N-15 W-7, Kita-ku, Sapporo 060-8638, Japan.
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MeSH Terms
Brain / cytology
Brain Chemistry / genetics*
Cell Line
DNA / analysis,  genetics
Mosaicism / genetics*
Reverse Transcriptase Polymerase Chain Reaction
Spinocerebellar Ataxias / genetics*
Trinucleotide Repeat Expansion / genetics*
Trinucleotide Repeats / genetics*
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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