PMID: 9416816Jan 7, 1998Paper

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes

Journal of Neurology, Neurosurgery, and Psychiatry
M W KellettT P Enevoldson

Abstract

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.

Citations

Dec 10, 1999·Annals of the New York Academy of Sciences·A A BarreiraN W Wood
Sep 21, 2004·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Siân D SpaceyTerrance P Snutch
Oct 1, 1999·Annals of the New York Academy of Sciences·A A BarreiraN W Wood

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