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Article

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Brain & development - 1 Sept 2003

Roubertie Agathe, Biolsi Brigitte, Rivier François, Humbertclaude Véronique, Cheminal Renée, Echenne Bernard

Abstract excerpt

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...

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Identifiers

PMID: 12907280
DOI: 10.1016/s0387-7604(03)00054-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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