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

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 (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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Benomar A,Yahyaoui M,Meggouh F,Bouhouche A,Boutchich M,Bouslam N,Zaim A,Schmitt M,Belaidi H,Ouazzani R,Chkili T,Koenig M

doi

10.1016/s0022-510x(02)00057-6

subject

Has Abstract

pub_date

2002-06-15 00:00:00

pages

25-9

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022510X02000576

journal_volume

198

pub_type

杂志文章

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