Friedreich's ataxia and hereditary vitamin E deficiency. Case study
Labauge, P.; Cavalier, L.; Ichalalene, L.; Castelnovo, G.
Revue Neurologique (Paris) 154(4): 339-341
1998
ISSN/ISBN: 0035-3787 PMID: 9773063 Document Number: 495116
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.