Document Detail

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
MedLine Citation:
PMID:  11017075     Owner:  NLM     Status:  MEDLINE    
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13-qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome.
T Matsuura; T Yamagata; D L Burgess; A Rasmussen; R P Grewal; K Watase; M Khajavi; A E McCall; C F Davis; L Zu; M Achari; S M Pulst; E Alonso; J L Noebels; D L Nelson; H Y Zoghbi; T Ashizawa
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  26     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2000 Oct 
Date Detail:
Created Date:  2000-11-08     Completed Date:  2000-11-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  191-4     Citation Subset:  IM    
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AI836854;  AL050282;  X61506
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MeSH Terms
Asian Continental Ancestry Group / genetics
Brain / metabolism,  pathology
Chromosome Mapping
Chromosomes, Human, Pair 22*
DNA / blood,  chemistry,  genetics*
Epilepsy / genetics,  pathology
European Continental Ancestry Group / genetics
Mexican Americans / genetics
Mice, Inbred C57BL
Molecular Sequence Data
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid*
Spinocerebellar Ataxias / genetics*,  pathology
United States
Grant Support
Reg. No./Substance:

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