, Volume 256, Issue 7, pp 1180-1181
Date: 01 Mar 2009

Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene

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Ataxia with isolated vitamin E deficiency (AVED) is an autosomal-recessive spinocerebellar degeneration caused by a mutation of the α-tocopherol transfer protein gene (αTTP) [3, 8]. This report presents a case of juvenile spinocerebellar ataxia caused by mutations in the phospholipid transfer protein (PLTP) gene as well as the αTTP gene. This is the first report to indentify a mutation in the PLTP gene associated with vitamin E-mediated spinocerebellar ataxia.

The proband was a 54-year-old female who had developed resting tremors in her right hand and ataxia at 14 years of age. At around 30 years of age, her bilateral visual acuity was decreased by retinitis pigmentosa. Her parents were second-degree cousins. On neurological examination she exhibited ataxia, dysarthria, hyporeflexia, decreased proprioceptive and vibratory sensations, and resting tremors of the extremities. The serum vitamin E concentration was observed to be about half normal level, 4.2 mg/l (normal: 10.8 ± 3.3 mg/ ...