Document Detail


Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.
MedLine Citation:
PMID:  9416816     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In occasional families in whom cases of classic Friedreich's ataxia (FRDA) coexist with affected cases with retained reflexes, linkage analysis has shown that both map to the FRDA locus on chromosome 9q13-21.1. A gene X25 has been identified within the critical region of the FRDA locus, and an intronic expanded GAA trinucleotide repeat has been found in most cases of FRDA. We report two further FRDA families in whom some patients with classic FRDA were areflexic whereas others had brisk reflexes. Molecular genetic analysis disclosed an abnormal trinucleotide repeat expansion within intron 1 of the FRDA gene in both phenotypes.
Authors:
M W Kellett; N A Fletcher; N Wood; T P Enevoldson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  63     ISSN:  0022-3050     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  1997 Dec 
Date Detail:
Created Date:  1998-01-27     Completed Date:  1998-01-27     Revised Date:  2008-11-20    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  780-3     Citation Subset:  IM    
Affiliation:
The Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Alleles
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 9 / genetics
Female
Friedreich Ataxia / genetics*
Genes / genetics
Humans
Phenotype
Point Mutation / genetics
Trinucleotide Repeats / genetics*

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


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