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

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.

journal_name

Brain Dev

journal_title

Brain & development

authors

Roubertie A,Biolsi B,Rivier F,Humbertclaude V,Cheminal R,Echenne B

doi

10.1016/s0387-7604(03)00054-8

keywords:

subject

Has Abstract

pub_date

2003-09-01 00:00:00

pages

442-5

issue

6

eissn

0387-7604

issn

1872-7131

pii

S0387760403000548

journal_volume

25

pub_type

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