Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
Identifieur interne : 000813 ( Ncbi/Merge ); précédent : 000812; suivant : 000814Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
Auteurs : Lucia Angelini [Italie] ; Anna Erba ; Caterina Mariotti ; Cinzia Gellera ; Claudia Ciano ; Nardo NardocciSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- diagnosis : Dystonic Disorders, Myoclonus, Vitamin E Deficiency.
- genetics : Vitamin E Deficiency.
- Adolescent, Electromyography, Humans, Male, Treatment Outcome.
Abstract
We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.
DOI: 10.1002/mds.10026
PubMed: 12112220
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pubmed:12112220Le document en format XML
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<author><name sortKey="Angelini, Lucia" sort="Angelini, Lucia" uniqKey="Angelini L" first="Lucia" last="Angelini">Lucia Angelini</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neuropediatrics, National Neurological Institute C. Besta, Milan, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuropediatrics, National Neurological Institute C. Besta, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
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<author><name sortKey="Erba, Anna" sort="Erba, Anna" uniqKey="Erba A" first="Anna" last="Erba">Anna Erba</name>
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<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
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<author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name>
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<author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
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<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
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<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
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<author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name>
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<author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
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<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Dystonic Disorders (diagnosis)</term>
<term>Electromyography</term>
<term>Humans</term>
<term>Male</term>
<term>Myoclonus (diagnosis)</term>
<term>Treatment Outcome</term>
<term>Vitamin E Deficiency (diagnosis)</term>
<term>Vitamin E Deficiency (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<term>Myoclonus</term>
<term>Vitamin E Deficiency</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Vitamin E Deficiency</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Electromyography</term>
<term>Humans</term>
<term>Male</term>
<term>Treatment Outcome</term>
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<front><div type="abstract" xml:lang="en">We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.</div>
</front>
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<Month>07</Month>
<Day>11</Day>
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<Month>09</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.</ArticleTitle>
<Pagination><MedlinePgn>612-4</MedlinePgn>
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<Abstract><AbstractText>We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.</AbstractText>
<CopyrightInformation>Copyright 2002 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Angelini</LastName>
<ForeName>Lucia</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Department of Neuropediatrics, National Neurological Institute C. Besta, Milan, Italy.</Affiliation>
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<tree><noCountry><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
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<name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name>
<name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
<name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
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<country name="Italie"><region name="Lombardie"><name sortKey="Angelini, Lucia" sort="Angelini, Lucia" uniqKey="Angelini L" first="Lucia" last="Angelini">Lucia Angelini</name>
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