Article
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Annals of neurology - 1 May 1997
Montermini L, Richter A, Morgan K, Justice C M, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard J P, Lemieux B, Mathieu J, Vanasse M, Seni M H, Graham G, Andermann F, Andermann E, Melançon S B, Keats B J, Di Donato S, Pandolfo M
Abstract excerpt
We studied genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations, including 44 Acadian FRDA, 8 late-onset FRDA (LOFA), and 6 FRDA with retained reflexes (FARR). All patients, except 3...
Topics
- Adolescent
- Adult
- Age of Onset
- Child
- DNA
- Disease Progression
- Friedreich Ataxia
- Genotype
- Humans
- Phenotype
- Trinucleotide Repeats