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 Devjournal_title
Brain & developmentauthors
Roubertie A,Biolsi B,Rivier F,Humbertclaude V,Cheminal R,Echenne Bdoi
10.1016/s0387-7604(03)00054-8keywords:
subject
Has Abstractpub_date
2003-09-01 00:00:00pages
442-5issue
6eissn
0387-7604issn
1872-7131pii
S0387760403000548journal_volume
25pub_type
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journal_title:Brain & development
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journal_title:Brain & development
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更新日期:2016-08-01 00:00:00
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journal_title:Brain & development
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