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Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency
M Schuelke1, E Mayatepek, M Inter
1Charité University Hospital, Department of Neuropediatrics, Clinic of Child and Adolescent Psychiatry, Psychosomatic and Psychotherapy, Berlin, Germany.
The Journal of Pediatrics
|February 5, 1999
Abstract:
Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete.