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

被引：37

作者：

Benomar, A

Yahyaoui, M

Meggouh, F

Bouhouche, A

Boutchich, M

Bouslam, N

Zaim, A

Schmitt, M

Belaidi, H

Ouazzani, R

Chkili, T

Koenig, M

机构：

[1] Hop Specialites, Serv Neurol, Neurogenet Lab, Rabat Inst, Rabat, Morocco

[2] Hop Avicenne, LNLCLMCV, Mol Biol Lab, Rabat, Morocco

[3] Hop El Farabi, Serv Neurol, Oujda, Morocco

[4] Hop Mohammed V, Serv Neurol, El Jadida, Morocco

[5] Fac Med Strasbourg, Serv Diagnost Genet, Strasbourg, France

[6] Hop Specialites, Serv Neurol, Lab Neurophysiol, Rabat, Morocco

[7] ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellulaire, Strasbourg, France

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2002年 / 198卷 / 1-2期

关键词：

Friedreich ataxia; vitamin E; GAA expansion; alpha-tocopherol gene;

D O I：

10.1016/S0022-510X(02)00057-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 a-TTP gene. The neurological disorder associated with vitamin E deficiency can be improved by the alpha-tocopherol treatment. (C) 2002 Elsevier Science B.V. All rights reserved.

引用

页码：25 / 29

页数：5

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