Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families

Ali Benomar , Mohammed Yahyaoui , Farid Meggouh , Ahmed Bouhouche , Mohammed Boutchich , Naima Bouslam , Abdelhaq Zaim , Michèle Schmitt , Halima Belaidi , Reda Ouazzani , Taïb Chkili , Michel Koenig (1, 1)

1 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire

Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). The other eight families (16 patients) had GAA expansions in the first intron of the frataxin gene. The clinical differences between the two groups differed. AVED caused by the 744 del A could be distinguished by head titubation, lower frequency of the neuropathy and slower disease progression, decreased visual activity and retinitis pigmentosa, which has also been associated with a His(101) Gln missense mutation in the alpha-TTP gene. The neurological disorder associated with vitamin E deficiency can be improved by the alpha-tocopherol treatment.

Domaines: Neurosciences [q-bio.NC]

Ali Benomar, Mohammed Yahyaoui, Farid Meggouh, Ahmed Bouhouche, Mohammed Boutchich, et al.. Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. Journal of the Neurological Sciences, 2002, 198 (1-2), pp.25-29. ⟨10.1016/s0022-510x(02)00057-6⟩. ⟨hal-04131720⟩