Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Annals of neurology - 1 Mar 2016
Galea Charles A, Huq Aamira, Lockhart Paul J, Tai Geneieve, Corben Louise A, Yiu Eppie M, Gurrin Lyle C, Lynch David R, Gelbard Sarah, Durr Alexandra, Pousset Francoise, Parkinson Michael, Labrum Robyn, Giunti Paola, Perlman Susan L, Delatycki Martin B, Evans-Galea Marguerite V
Abstract excerpt
OBJECTIVE: Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expression. Remaining individuals are compound heterozygous for a GAA expansion and a FXN point/insertion/deletion mutation. We examined disease-causing mutations...
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