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Title of article :
Ataxia with vitamin E deficiency and severe dystonia: report of a case
Author/Authors :
Agathe Roubertie، نويسنده , , Brigitte Biolsi، نويسنده , , François Rivier، نويسنده , , Véronique Humbertclaude، نويسنده , , Renée Cheminal، نويسنده , , Bernard Echenne، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2003
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Abstract :
Mutation of the gene for α-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.
Keywords :
Aataxia with vitamin E deficiency , Generalized dystonia , oxidative stress , Secondary dystonia
Journal title :
Brain and Development
Serial Year :
Link To Document :