TITLE:
Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families
AUTHORS:
Fatima Imounan, Naima Bouslam, El Hachmia Aitbenhaddou, Wafa Regragui, Ahmed Bouhouche, Ali Benomar, Mohammed Yahyaoui
KEYWORDS:
Friedreich’s Ataxia, Ataxia with Vitamin E Deficiency, GAA Expansion, 744 Del A Mutation
JOURNAL NAME:
World Journal of Neuroscience,
Vol.4 No.4,
July
23,
2014
ABSTRACT: 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.