Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families - Archive ouverte HAL
Article Dans Une Revue Journal of the Neurological Sciences Année : 2002

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

Ali Benomar
  • Fonction : Auteur
Mohammed Yahyaoui
  • Fonction : Auteur
Farid Meggouh
  • Fonction : Auteur
Ahmed Bouhouche
  • Fonction : Auteur
Mohammed Boutchich
  • Fonction : Auteur
Naima Bouslam
  • Fonction : Auteur
Abdelhaq Zaim
  • Fonction : Auteur
Michèle Schmitt
  • Fonction : Auteur
Halima Belaidi
  • Fonction : Auteur
Reda Ouazzani
  • Fonction : Auteur
Taïb Chkili
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-04131720 , version 1 (16-06-2023)

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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⟩
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