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

Benomar, Ali; Yahyaoui, Mohammed; Meggouh, Farid; Bouhouche, Ahmed; Boutchich, Mohammed; Bouslam, Naima; Zaim, Abdelhaq; Schmitt, Michèle; Belaidi, Halima; Ouazzani, Reda; Chkili, Taı̈b; Koenig, Michel

« Previous Next »Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 25-29, 15 June 2002

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

Ali Benomar
- Corresponding author. Tel.: +212-7-775281; fax: +212-7-779348
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
Mohammed Yahyaoui
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
Farid Meggouh
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
- Laboratoire de biologie moléculaire LNLCLMCV Hôpital Avicenne, Rabat, Morocco
Ahmed Bouhouche
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
Mohammed Boutchich
- Service de Neurologie, Hôpital El farabi, Oujda, Morocco
Naima Bouslam
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
Abdelhaq Zaim
- Service de Neurologie Hôpital Mohammed V, El Jadida, Morocco
Michèle Schmitt
- Service de Diagnostic Génétique, Faculté de Médecine, Strasbourg, France
Halima Belaidi
- Laboratoire de neurophysiologie, Service de Neurologie, Hôpital des spécialités, Rabat, Morocco
Reda Ouazzani
- Laboratoire de neurophysiologie, Service de Neurologie, Hôpital des spécialités, Rabat, Morocco
Taı̈b Chkili
- Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco
- Laboratoire de neurophysiologie, Service de Neurologie, Hôpital des spécialités, Rabat, Morocco
Michel Koenig
- Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, Strasbourg, France

Received 1 July 2001; received in revised form 27 February 2002; accepted 28 February 2002.

Abstract

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 (α-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 His¹⁰¹ Gln missense mutation in the α-TTP gene. The neurological disorder associated with vitamin E deficiency can be improved by the alpha-tocopherol treatment.

Keywords: Friedreich ataxia, Vitamin E, GAA expansion, Alpha-tocopherol gene