Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.
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.
Benomar
Ali
A
Laboratoire de neurogénétique, Service de Neurologie, Hôpital des spécialités, BP 6220 Rabat Instituts, Rabat, Morocco. alibenomar@hotmail.com
Yahyaoui
Mohammed
M
Meggouh
Farid
F
Bouhouche
Ahmed
A
Boutchich
Mohammed
M
Bouslam
Naima
N
Zaim
Abdelhaq
A
Schmitt
Michèle
M
Belaidi
Halima
H
Ouazzani
Reda
R
Chkili
Taïb
T
Koenig
Michel
M
D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D001483:Base Sequence / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D018450:Disease Progression; D005621:Friedreich Ataxia / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D033862:Iron-Binding Proteins; D009018:Morocco; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D014811:Vitamin E Deficiency / Q000150:complications / Q000235:genetics*; D000096923:Frataxin
D002352:Carrier Proteins; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin; C017763:alpha-tocopherol transfer protein