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Published on: September 12, 2020
Ataxia with vitamin E deficiency and severe dystonia: report of a case
Agathe Roubertie1, Brigitte Biolsi, François Rivier
1Service de Neuropédiatrie, Hôpital Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France. a_roubertie@hotmail.com
Abstract:
Mutation of the gene for alpha-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.
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