Thursday, July 2, 2009

Ataxia with vitamin E deficiency in southeast Norway, case report.

Koht J, Bjørnarå KA, Jørum E, Tallaksen CM.
Faculty of Medicine, University of Oslo, Oslo, Norway.

Keywords: AVED, Friedreich's ataxia, Frataxin gene, unknown prevalence, Norway, preschool age, neurological examination, re-evaluation, re-examination, neuropathy. Vitamin E, heterozygous mutation, p.A120T, p.R134X, alpha-tocopherol transport protein gene, chromosome 8q13, treatment available,