Trinucleotide (GAA)n repeat expansion in two families with Friedreich’s ataxia with retained reflexes
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 intro...
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Published in | Journal of neurology, neurosurgery and psychiatry Vol. 63; no. 6; pp. 780 - 783 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd
01.12.1997
BMJ BMJ Publishing Group LTD BMJ Group |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | PMID:9416816 local:jnnp;63/6/780 Dr Mark W Kellett, The University Department of Neuroscience, The Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool L9 1AE, UK. ark:/67375/NVC-P44MXT71-8 istex:EA648FC0DF0264E90AE22DB383FF366F99D26826 href:jnnp-63-780.pdf ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0022-3050 1468-330X |
DOI: | 10.1136/jnnp.63.6.780 |