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Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families

Introduction: 
Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the 
most common one of the genetically inherited 
ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, 
with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency 
(AVED) is characterized clinically by neurological symptoms with often striking 
resemblance to those of Friedreich’s ataxia (FA) but serum concentrations of 
vitamin E are low. Aim of study: To study clinical and genetic features of the Friedreich’s 
ataxia and AVED patients in 44 Moroccan families. Patients and Methods: 
Retrospective series of 72 Moroccan patients displaying Friedreich’s ataxia 
syndrome was recruited over a period of 22 years (1987-2009). All patients had 
a clinical and ophtalmological examinations, 30 patients underwent 
electromyography, and CT scan was performed in 29 patients. GAA repeats in the 
frataxin gene and the 744 del A mutation α-TTP gene were performed in all 
patients. Results: 17 patients (24% of cases) had the 744 del A mutation in the 
α-TTP gene responsible of ataxia with vitamin E deficiency (AVED) phenotype. 55 
patients  (76% of cases) had GAA expanded allele in the first intron of the 
frataxin gene. Phenotype-genotype correlation revealed a high frequency 
of head titubation, decreased visual acuity and slower disease progression in 
AVED than in Friedreich’s ataxia phenotype (p Our study represents a large series which 
highlight the clinical and genetic differences between AVED and Friedreich’s 
ataxia. AVED patients have a better prognosis after alpha-tocopherol treatment.