MovDisordV3, PubMed, Curation, bibRecord, 000796

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Identifieur interne : 000796 ( PubMed/Curation ); précédent : 000795; suivant : 000797

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Auteurs : Antoine Duquette [Canada] ; Bernard Brais ; Jean-Pierre Bouchard ; Jean Mathieu

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.

RBID : pubmed:23913799

English descriptors

KwdEn :
- Adolescent, Disease Progression, Female, Humans, Male, Muscle Spasticity (diagnosis), Muscle Spasticity (physiopathology), Spinocerebellar Ataxias (congenital), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (physiopathology).
MESH :
- congenital : Spinocerebellar Ataxias.
- diagnosis : Muscle Spasticity, Spinocerebellar Ataxias.
- physiopathology : Muscle Spasticity, Spinocerebellar Ataxias.
- Adolescent, Disease Progression, Female, Humans, Male.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.

DOI: 10.1002/mds.25604
PubMed: 23913799

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Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.</title>
<author><name sortKey="Duquette, Antoine" sort="Duquette, Antoine" uniqKey="Duquette A" first="Antoine" last="Duquette">Antoine Duquette</name>
<affiliation wicri:level="1"><nlm:affiliation>Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
</author>
<author><name sortKey="Bouchard, Jean Pierre" sort="Bouchard, Jean Pierre" uniqKey="Bouchard J" first="Jean-Pierre" last="Bouchard">Jean-Pierre Bouchard</name>
</author>
<author><name sortKey="Mathieu, Jean" sort="Mathieu, Jean" uniqKey="Mathieu J" first="Jean" last="Mathieu">Jean Mathieu</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2013">2013</date>
<idno type="RBID">pubmed:23913799</idno>
<idno type="pmid">23913799</idno>
<idno type="doi">10.1002/mds.25604</idno>
<idno type="wicri:Area/PubMed/Corpus">000796</idno>
<idno type="wicri:Area/PubMed/Curation">000796</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.</title>
<author><name sortKey="Duquette, Antoine" sort="Duquette, Antoine" uniqKey="Duquette A" first="Antoine" last="Duquette">Antoine Duquette</name>
<affiliation wicri:level="1"><nlm:affiliation>Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
</author>
<author><name sortKey="Bouchard, Jean Pierre" sort="Bouchard, Jean Pierre" uniqKey="Bouchard J" first="Jean-Pierre" last="Bouchard">Jean-Pierre Bouchard</name>
</author>
<author><name sortKey="Mathieu, Jean" sort="Mathieu, Jean" uniqKey="Mathieu J" first="Jean" last="Mathieu">Jean Mathieu</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013" type="published">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Muscle Spasticity (diagnosis)</term>
<term>Muscle Spasticity (physiopathology)</term>
<term>Spinocerebellar Ataxias (congenital)</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (physiopathology)</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Muscle Spasticity</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle Spasticity</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23913799</PMID>
<DateCreated><Year>2013</Year>
<Month>12</Month>
<Day>10</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>07</Month>
<Day>29</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>14</Issue>
<PubDate><Year>2013</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.</ArticleTitle>
<Pagination><MedlinePgn>2011-4</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25604</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We reviewed the initial presentation (n = 40) and early clinical evolution (n = 50) of a large ARSACS cohort that was followed at the Saguenay Neuromuscular clinic.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The average age at presentation was 3.41 ± 1.55 years. Increased deep tendon reflexes were more common than spasticity initially, and the neuropathy only became apparent clinically in the second decade. Despite a homogeneous genetic background, some patients showed no signs of neuropathy or spasticity by the age of 18 years.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">At presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent.</AbstractText>
<CopyrightInformation>© 2013 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Duquette</LastName>
<ForeName>Antoine</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brais</LastName>
<ForeName>Bernard</ForeName>
<Initials>B</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bouchard</LastName>
<ForeName>Jean-Pierre</ForeName>
<Initials>JP</Initials>
</Author>
<Author ValidYN="Y"><LastName>Mathieu</LastName>
<ForeName>Jean</ForeName>
<Initials>J</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2013</Year>
<Month>08</Month>
<Day>02</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<SupplMeshList><SupplMeshName Type="Disease" UI="C536787">Spastic ataxia Charlevoix-Saguenay type</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</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="D009128">Muscle Spasticity</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000151">congenital</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ARSACS</Keyword>
<Keyword MajorTopicYN="N">French-Canadian</Keyword>
<Keyword MajorTopicYN="N">neuropathy</Keyword>
<Keyword MajorTopicYN="N">spasticity</Keyword>
<Keyword MajorTopicYN="N">spinocerebellar ataxia</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year>
<Month>10</Month>
<Day>24</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2013</Year>
<Month>4</Month>
<Day>25</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2013</Year>
<Month>5</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year>
<Month>8</Month>
<Day>2</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2013</Year>
<Month>8</Month>
<Day>6</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="pubmed"><Year>2013</Year>
<Month>8</Month>
<Day>6</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2014</Year>
<Month>7</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">23913799</ArticleId>
<ArticleId IdType="doi">10.1002/mds.25604</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

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)

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Pour générer des pages wiki