MovDisordV3, PubMed, Curation, bibRecord, 002821

Primary skeletal muscle involvement in chorea-acanthocytosis.

Identifieur interne : 002821 ( PubMed/Curation ); précédent : 002820; suivant : 002822

Primary skeletal muscle involvement in chorea-acanthocytosis.

Auteurs : Shinji Saiki [Japon] ; Koichiro Sakai ; Ken-Ya Murata ; Misuzu Saiki ; Megumi Nakanishi ; Yoko Kitagawa ; Muichi Kaito ; Yuichiro Gondo ; Toshihide Kumamoto ; Makoto Matsui ; Nobutaka Hattori ; Genjiro Hirose

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17345646

English descriptors

KwdEn :
- Chorea (genetics), Chorea (pathology), Chorea (physiopathology), DNA (genetics), Humans, Muscle, Skeletal (pathology), Muscle, Skeletal (physiopathology), Mutation, RNA, Messenger (genetics), Spectrin (genetics), Trinucleotide Repeats, Vesicular Transport Proteins (genetics).
MESH :
- chemical , genetics : DNA, RNA, Messenger, Spectrin, Vesicular Transport Proteins.
- genetics : Chorea.
- pathology : Chorea, Muscle, Skeletal.
- physiopathology : Chorea, Muscle, Skeletal.
- Humans, Mutation, Trinucleotide Repeats.

Abstract

Chorea-acanthocytosis (ChAc) is a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase. Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies. Chorein immunoreactivities in HD, MLS, and NC were found linearly along the sarcolemma and appeared as speckles in the sarcoplasma, but those in ChAc were uneven and discontinuous along the sarcolemmas and increased in the sarcoplasma especially in type I fibers. This histological observation suggests chorein abnormalities of skeletal muscles might be associated with primary involvement of skeletal muscles in this disorder.

DOI: 10.1002/mds.21437
PubMed: 17345646

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

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002821

Links to Exploration step

pubmed:17345646

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Primary skeletal muscle involvement in chorea-acanthocytosis.</title>
<author><name sortKey="Saiki, Shinji" sort="Saiki, Shinji" uniqKey="Saiki S" first="Shinji" last="Saiki">Shinji Saiki</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293, Japan. ss644@cam.ac.uk</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sakai, Koichiro" sort="Sakai, Koichiro" uniqKey="Sakai K" first="Koichiro" last="Sakai">Koichiro Sakai</name>
</author>
<author><name sortKey="Murata, Ken Ya" sort="Murata, Ken Ya" uniqKey="Murata K" first="Ken-Ya" last="Murata">Ken-Ya Murata</name>
</author>
<author><name sortKey="Saiki, Misuzu" sort="Saiki, Misuzu" uniqKey="Saiki M" first="Misuzu" last="Saiki">Misuzu Saiki</name>
</author>
<author><name sortKey="Nakanishi, Megumi" sort="Nakanishi, Megumi" uniqKey="Nakanishi M" first="Megumi" last="Nakanishi">Megumi Nakanishi</name>
</author>
<author><name sortKey="Kitagawa, Yoko" sort="Kitagawa, Yoko" uniqKey="Kitagawa Y" first="Yoko" last="Kitagawa">Yoko Kitagawa</name>
</author>
<author><name sortKey="Kaito, Muichi" sort="Kaito, Muichi" uniqKey="Kaito M" first="Muichi" last="Kaito">Muichi Kaito</name>
</author>
<author><name sortKey="Gondo, Yuichiro" sort="Gondo, Yuichiro" uniqKey="Gondo Y" first="Yuichiro" last="Gondo">Yuichiro Gondo</name>
</author>
<author><name sortKey="Kumamoto, Toshihide" sort="Kumamoto, Toshihide" uniqKey="Kumamoto T" first="Toshihide" last="Kumamoto">Toshihide Kumamoto</name>
</author>
<author><name sortKey="Matsui, Makoto" sort="Matsui, Makoto" uniqKey="Matsui M" first="Makoto" last="Matsui">Makoto Matsui</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</author>
<author><name sortKey="Hirose, Genjiro" sort="Hirose, Genjiro" uniqKey="Hirose G" first="Genjiro" last="Hirose">Genjiro Hirose</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21437</idno>
<idno type="RBID">pubmed:17345646</idno>
<idno type="pmid">17345646</idno>
<idno type="wicri:Area/PubMed/Corpus">002821</idno>
<idno type="wicri:Area/PubMed/Curation">002821</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Primary skeletal muscle involvement in chorea-acanthocytosis.</title>
<author><name sortKey="Saiki, Shinji" sort="Saiki, Shinji" uniqKey="Saiki S" first="Shinji" last="Saiki">Shinji Saiki</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293, Japan. ss644@cam.ac.uk</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sakai, Koichiro" sort="Sakai, Koichiro" uniqKey="Sakai K" first="Koichiro" last="Sakai">Koichiro Sakai</name>
</author>
<author><name sortKey="Murata, Ken Ya" sort="Murata, Ken Ya" uniqKey="Murata K" first="Ken-Ya" last="Murata">Ken-Ya Murata</name>
</author>
<author><name sortKey="Saiki, Misuzu" sort="Saiki, Misuzu" uniqKey="Saiki M" first="Misuzu" last="Saiki">Misuzu Saiki</name>
</author>
<author><name sortKey="Nakanishi, Megumi" sort="Nakanishi, Megumi" uniqKey="Nakanishi M" first="Megumi" last="Nakanishi">Megumi Nakanishi</name>
</author>
<author><name sortKey="Kitagawa, Yoko" sort="Kitagawa, Yoko" uniqKey="Kitagawa Y" first="Yoko" last="Kitagawa">Yoko Kitagawa</name>
</author>
<author><name sortKey="Kaito, Muichi" sort="Kaito, Muichi" uniqKey="Kaito M" first="Muichi" last="Kaito">Muichi Kaito</name>
</author>
<author><name sortKey="Gondo, Yuichiro" sort="Gondo, Yuichiro" uniqKey="Gondo Y" first="Yuichiro" last="Gondo">Yuichiro Gondo</name>
</author>
<author><name sortKey="Kumamoto, Toshihide" sort="Kumamoto, Toshihide" uniqKey="Kumamoto T" first="Toshihide" last="Kumamoto">Toshihide Kumamoto</name>
</author>
<author><name sortKey="Matsui, Makoto" sort="Matsui, Makoto" uniqKey="Matsui M" first="Makoto" last="Matsui">Makoto Matsui</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</author>
<author><name sortKey="Hirose, Genjiro" sort="Hirose, Genjiro" uniqKey="Hirose G" first="Genjiro" last="Hirose">Genjiro Hirose</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="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea (genetics)</term>
<term>Chorea (pathology)</term>
<term>Chorea (physiopathology)</term>
<term>DNA (genetics)</term>
<term>Humans</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Muscle, Skeletal (physiopathology)</term>
<term>Mutation</term>
<term>RNA, Messenger (genetics)</term>
<term>Spectrin (genetics)</term>
<term>Trinucleotide Repeats</term>
<term>Vesicular Transport Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>RNA, Messenger</term>
<term>Spectrin</term>
<term>Vesicular Transport Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term>
<term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Chorea</term>
<term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Mutation</term>
<term>Trinucleotide Repeats</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Chorea-acanthocytosis (ChAc) is a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase. Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies. Chorein immunoreactivities in HD, MLS, and NC were found linearly along the sarcolemma and appeared as speckles in the sarcoplasma, but those in ChAc were uneven and discontinuous along the sarcolemmas and increased in the sarcoplasma especially in type I fibers. This histological observation suggests chorein abnormalities of skeletal muscles might be associated with primary involvement of skeletal muscles in this disorder.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17345646</PMID>
<DateCreated><Year>2007</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>07</Month>
<Day>12</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>11</Month>
<Day>15</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>6</Issue>
<PubDate><Year>2007</Year>
<Month>Apr</Month>
<Day>30</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Primary skeletal muscle involvement in chorea-acanthocytosis.</ArticleTitle>
<Pagination><MedlinePgn>848-52</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Chorea-acanthocytosis (ChAc) is a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase. Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies. Chorein immunoreactivities in HD, MLS, and NC were found linearly along the sarcolemma and appeared as speckles in the sarcoplasma, but those in ChAc were uneven and discontinuous along the sarcolemmas and increased in the sarcoplasma especially in type I fibers. This histological observation suggests chorein abnormalities of skeletal muscles might be associated with primary involvement of skeletal muscles in this disorder.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Saiki</LastName>
<ForeName>Shinji</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293, Japan. ss644@cam.ac.uk</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sakai</LastName>
<ForeName>Koichiro</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Murata</LastName>
<ForeName>Ken-ya</ForeName>
<Initials>KY</Initials>
</Author>
<Author ValidYN="Y"><LastName>Saiki</LastName>
<ForeName>Misuzu</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nakanishi</LastName>
<ForeName>Megumi</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kitagawa</LastName>
<ForeName>Yoko</ForeName>
<Initials>Y</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kaito</LastName>
<ForeName>Muichi</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gondo</LastName>
<ForeName>Yuichiro</ForeName>
<Initials>Y</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kumamoto</LastName>
<ForeName>Toshihide</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Matsui</LastName>
<ForeName>Makoto</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hattori</LastName>
<ForeName>Nobutaka</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hirose</LastName>
<ForeName>Genjiro</ForeName>
<Initials>G</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>
</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="D012333">RNA, Messenger</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C429654">VPS13A protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D033921">Vesicular Transport Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>12634-43-4</RegistryNumber>
<NameOfSubstance UI="D013049">Spectrin</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>9007-49-2</RegistryNumber>
<NameOfSubstance UI="D004247">DNA</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004247">DNA</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012333">RNA, Messenger</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013049">Spectrin</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D033921">Vesicular Transport Proteins</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>3</Month>
<Day>9</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>7</Month>
<Day>13</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
<Month>3</Month>
<Day>9</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21437</ArticleId>
<ArticleId IdType="pubmed">17345646</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

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

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002821 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 002821 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:17345646
   |texte=   Primary skeletal muscle involvement in chorea-acanthocytosis.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:17345646" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/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)

Primary skeletal muscle involvement in chorea-acanthocytosis.

Primary skeletal muscle involvement in chorea-acanthocytosis.

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