Document Detail

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia.
MedLine Citation:
PMID:  12372061     Owner:  NLM     Status:  MEDLINE    
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG repeat expansion on chromosome 13q21. However, the role of the CTG repeat in SCA8 pathology is not yet well understood. Therefore, we studied the length of the SCA8 CTA/CTG expansions (combined repeats, CRs) in 115 patients with ataxia, 64 unrelated individuals with non-triplet neuromuscular diseases, 70 unrelated patients with schizophrenia, and 125 healthy controls. Only one patient with apparently sporadic ataxia was identified with an expansion of 100 CRs. He had inherited the expansion from his asymptomatic father (140 CRs) and transmitted the mutation to his son (92 CRs). Paternal transmission in this family produced contractions of 40 and 8 CRs, respectively. None of the subjects from other studied groups had an expansion at the SCA8 locus. In the control group the number of CRs at the SCA8 locus ranged from 14 to 34. Our findings support the notion that allelic variants of the expansion mutation at the SCA8 locus can predispose to ataxia.
I Topisirovic; N Dragasevic; D Savic; A Ristic; M Keckarevic; D Keckarevic; B Culjkovic; I Petrovic; S Romac; V S Kostic
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  62     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-09     Completed Date:  2003-03-14     Revised Date:  2010-09-22    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  321-4     Citation Subset:  IM    
PCR Center, Faculty for Biology, Institute of Neurology CCS, School of Medicine, University of Belgrade, Serbia.
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MeSH Terms
Genes, Dominant
Nerve Tissue Proteins / genetics*
Spinocerebellar Ataxias / genetics*,  physiopathology
Spinocerebellar Degenerations / genetics*
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/ATXN8OS gene product, human; 0/Nerve Tissue Proteins

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