MovDisordV3, PubMed, Checkpoint, bibRecord, 003A14

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Identifieur interne : 003A14 ( PubMed/Checkpoint ); précédent : 003A13; suivant : 003A15

Myoclonic 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 Nardocci

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:12112220

English descriptors

KwdEn :
- Adolescent, Carrier Proteins (genetics), Dystonic Disorders (diagnosis), Electromyography, Humans, Male, Myoclonus (diagnosis), Treatment Outcome, Vitamin E Deficiency (diagnosis), Vitamin E Deficiency (genetics).
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

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 003A38
to stream PubMed, to step Curation: 003A38

Links to Exploration step

pubmed:12112220

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.</title>
<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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Erba, Anna" sort="Erba, Anna" uniqKey="Erba A" first="Anna" last="Erba">Anna Erba</name>
</author>
<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
</author>
<author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name>
</author>
<author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
</author>
<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2002">2002</date>
<idno type="RBID">pubmed:12112220</idno>
<idno type="pmid">12112220</idno>
<idno type="doi">10.1002/mds.10026</idno>
<idno type="wicri:Area/PubMed/Corpus">003A38</idno>
<idno type="wicri:Area/PubMed/Curation">003A38</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003A14</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.</title>
<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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Erba, Anna" sort="Erba, Anna" uniqKey="Erba A" first="Anna" last="Erba">Anna Erba</name>
</author>
<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
</author>
<author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name>
</author>
<author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
</author>
<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002" type="published">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Carrier Proteins (genetics)</term>
<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>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Myoclonus</term>
<term>Vitamin E Deficiency</term>
</keywords>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12112220</PMID>
<DateCreated><Year>2002</Year>
<Month>07</Month>
<Day>11</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>09</Month>
<Day>16</Day>
</DateCompleted>
<DateRevised><Year>2005</Year>
<Month>12</Month>
<Day>06</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
<Issue>3</Issue>
<PubDate><Year>2002</Year>
<Month>May</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.</ArticleTitle>
<Pagination><MedlinePgn>612-4</MedlinePgn>
</Pagination>
<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>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Erba</LastName>
<ForeName>Anna</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Mariotti</LastName>
<ForeName>Caterina</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gellera</LastName>
<ForeName>Cinzia</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ciano</LastName>
<ForeName>Claudia</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nardocci</LastName>
<ForeName>Nardo</ForeName>
<Initials>N</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D002352">Carrier Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C017763">alpha-tocopherol transfer protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002352">Carrier Proteins</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016896">Treatment Outcome</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014811">Vitamin E Deficiency</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year>
<Month>7</Month>
<Day>12</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2002</Year>
<Month>9</Month>
<Day>17</Day>
<Hour>10</Hour>
<Minute>1</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2002</Year>
<Month>7</Month>
<Day>12</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">12112220</ArticleId>
<ArticleId IdType="doi">10.1002/mds.10026</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Italie</li>
</country>
<region><li>Lombardie</li>
</region>
<settlement><li>Milan</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
<name sortKey="Erba, Anna" sort="Erba, Anna" uniqKey="Erba A" first="Anna" last="Erba">Anna Erba</name>
<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>
</noCountry>
<country name="Italie"><region name="Lombardie"><name sortKey="Angelini, Lucia" sort="Angelini, Lucia" uniqKey="Angelini L" first="Lucia" last="Angelini">Lucia Angelini</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003A14 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 003A14 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Checkpoint
   |type=    RBID
   |clé=     pubmed:12112220
   |texte=   Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i   -Sk "pubmed:12112220" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki