[Friedreich's ataxia and hereditary vitamin E deficiency. Case study].
A 24-year-old patient, born from consanguineous parents, consulted for cerebellar syndrome, ataxia, loss of proprioception, bilateral Babinski sign and lower limbs areflexia. No mutation on Friedreich's ataxia gene was found. Plasmatic vitamin E level was extremely low. Point mutation on gene coding for alpha-tocopherol transfer protein (alpha-TTP) confirmed the diagnosis of familial isolated vitamin E deficiency (AVED). Vitamin E therapy restored normal serum levels and neurological symptoms were stabilized.
Labauge
P
P
Service de Neurologie, CHU de Nîmes.
Cavalier
L
L
Ichalalène
L
L
Castelnovo
G
G
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E
Ataxie de type Friedreich et déficit héréditaire en vitamine E. Un cas.