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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
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, Volume 198, No. 1-2, Year 2002
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Description
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. © 2002 Elsevier Science B.V. All rights reserved.
Authors & Co-Authors
Benomar, Ali
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Yahyaoui, Mohamed
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Meggouh, Farid
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Hôpital Avicenne
Bouhouche, Ahmed
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Boutchich, Mohammed
Morocco, Oujda
Hôpital el Farabi
Bouslam, Naïma
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Zaim, Abdelhaq
Morocco, El Jadida
Serv. de Neurol. Hop. Mohammed V
Schmitt, Michèle L.
France, Strasbourg
Université de Strasbourg
Belaïdi, Halima
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Ouazzani, Réda M.
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Chkili, Taïeb
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Kœnig, Michel
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
Statistics
Citations: 49
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1016/S0022-510X(02)00057-6
ISSN:
0022510X
Research Areas
Cancer
Genetics And Genomics