Genetics of Friedreich Ataxia

Abstract

Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre de Recherche Louis-Charles Simard, Service de Genetique Medicale, Service de Neurologie, Hopital Sainte-Justine, Departments of Genetics and Medicine, McGill University, Montreal General Hospital, and other centers.

Keywords

• friedreich ataxia
• molecular diagnosis
• hypertrophic cardiomyopathy