Primary skeletal muscle involvement in chorea‐acanthocytosis
Identifieur interne : 002B56 ( Istex/Corpus ); précédent : 002B55; suivant : 002B57Primary skeletal muscle involvement in chorea‐acanthocytosis
Auteurs : Shinji Saiki ; Koichiro Sakai ; Ken-Ya Murata ; Misuzu Saiki ; Megumi Nakanishi ; Yoko Kitagawa ; Muichi Kaito ; Yuichiro Gondo ; Toshihide Kumamoto ; Makoto Matsui ; Nobutaka Hattori ; Genjiro HiroseSource :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
English descriptors
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. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21437
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last="Sakai">Koichiro Sakai</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Murata, Ken A" sort="Murata, Ken A" uniqKey="Murata K" first="Ken-Ya" last="Murata">Ken-Ya Murata</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Saiki, Misuzu" sort="Saiki, Misuzu" uniqKey="Saiki M" first="Misuzu" last="Saiki">Misuzu Saiki</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Nakanishi, Megumi" sort="Nakanishi, Megumi" uniqKey="Nakanishi M" first="Megumi" last="Nakanishi">Megumi Nakanishi</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kitagawa, Yoko" sort="Kitagawa, Yoko" uniqKey="Kitagawa Y" first="Yoko" last="Kitagawa">Yoko Kitagawa</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kaito, Muichi" sort="Kaito, Muichi" uniqKey="Kaito M" first="Muichi" last="Kaito">Muichi Kaito</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Gondo, Yuichiro" sort="Gondo, Yuichiro" uniqKey="Gondo Y" first="Yuichiro" last="Gondo">Yuichiro Gondo</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kumamoto, Toshihide" sort="Kumamoto, Toshihide" uniqKey="Kumamoto T" first="Toshihide" last="Kumamoto">Toshihide Kumamoto</name><affiliation><mods:affiliation>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593, Japan</mods:affiliation></affiliation></author><author><name sortKey="Matsui, Makoto" sort="Matsui, Makoto" uniqKey="Matsui M" first="Makoto" last="Matsui">Makoto Matsui</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hirose, Genjiro" sort="Hirose, Genjiro" uniqKey="Hirose G" first="Genjiro" last="Hirose">Genjiro Hirose</name><affiliation><mods:affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-04-30">2007-04-30</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="848">848</biblScope><biblScope unit="page" to="852">852</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">46DA4A146A0C8662334A1598C3929C614D87C28D</idno><idno type="DOI">10.1002/mds.21437</idno><idno type="ArticleID">MDS21437</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>chorea‐acanthocytosis</term><term>chorein</term><term>neuroacanthocytosis</term><term>skeletal muscle</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Shinji Saiki MD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Koichiro Sakai MD, PhD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Ken‐Ya Murata MD, PhD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Misuzu Saiki MD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Megumi Nakanishi MD, PhD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Yoko Kitagawa AS</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Muichi Kaito MD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Yuichiro Gondo MD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Toshihide Kumamoto MD, PhD</name><affiliations><json:string>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593, Japan</json:string></affiliations></json:item><json:item><name>Makoto Matsui MD, PhD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item><json:item><name>Nobutaka Hattori MD, PhD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421, Japan</json:string></affiliations></json:item><json:item><name>Genjiro Hirose MD, PhD</name><affiliations><json:string>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>chorea‐acanthocytosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neuroacanthocytosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chorein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>skeletal muscle</value></json:item></subject><language><json:string>eng</json:string></language><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. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>4.612</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1116</abstractCharCount><pdfWordCount>2752</pdfWordCount><pdfCharCount>18797</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>155</abstractWordCount></qualityIndicators><title>Primary skeletal muscle involvement in chorea‐acanthocytosis</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>5</total><last>852</last><first>848</first></pages><issn><json:string>0885-3185</json:string></issn><issue>6</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21437</json:string></doi><id>46DA4A146A0C8662334A1598C3929C614D87C28D</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/46DA4A146A0C8662334A1598C3929C614D87C28D/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/46DA4A146A0C8662334A1598C3929C614D87C28D/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/46DA4A146A0C8662334A1598C3929C614D87C28D/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Primary skeletal muscle involvement in chorea‐acanthocytosis</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><notesStmt><note>Kanazawa Medical University - No. S2003, 2004‐11;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Primary skeletal muscle involvement in chorea‐acanthocytosis</title><author><persName><forename type="first">Shinji</forename><surname>Saiki</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Medical Genetics, Cambridge Institute for Medical Genetics, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0XY, United Kingdom</p></note><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Koichiro</forename><surname>Sakai</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Ken‐Ya</forename><surname>Murata</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Misuzu</forename><surname>Saiki</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Megumi</forename><surname>Nakanishi</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Yoko</forename><surname>Kitagawa</surname><roleName type="degree">AS</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Muichi</forename><surname>Kaito</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Yuichiro</forename><surname>Gondo</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Toshihide</forename><surname>Kumamoto</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593, Japan</affiliation></author><author><persName><forename type="first">Makoto</forename><surname>Matsui</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author><author><persName><forename type="first">Nobutaka</forename><surname>Hattori</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421, Japan</affiliation></author><author><persName><forename type="first">Genjiro</forename><surname>Hirose</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-04-30"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="848">848</biblScope><biblScope unit="page" to="852">852</biblScope></imprint></monogr><idno type="istex">46DA4A146A0C8662334A1598C3929C614D87C28D</idno><idno type="DOI">10.1002/mds.21437</idno><idno type="ArticleID">MDS21437</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>chorea‐acanthocytosis</term></item><item><term>neuroacanthocytosis</term></item><item><term>chorein</term></item><item><term>skeletal muscle</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-08-12">Received</change><change when="2007-01-17">Registration</change><change when="2007-04-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/46DA4A146A0C8662334A1598C3929C614D87C28D/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/mds.v22:6</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2007-04-30">30 April 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="140" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21437</doi><idGroup><id type="unit" value="MDS21437"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2005-08-12"></event><event type="manuscriptRevised" date="2006-12-15"></event><event type="manuscriptAccepted" date="2007-01-17"></event><event type="firstOnline" date="2007-03-07"></event><event type="publishedOnlineFinalForm" date="2007-04-24"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2007-03-07"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">848</numbering><numbering type="pageLast">852</numbering></numberingGroup><correspondenceTo>Department of Medical Genetics, Cambridge Institute for Medical Genetics, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0XY, United Kingdom</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21437.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="21"></count><count type="wordTotal" number="3091"></count></countGroup><titleGroup><title type="main" xml:lang="en">Primary skeletal muscle involvement in chorea‐acanthocytosis</title><title type="short" xml:lang="en">Primary Skeletal Muscle Involvement in ChAc</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Shinji</givenNames><familyName>Saiki</familyName><degrees>MD</degrees></personName><contactDetails><email>ss644@cam.ac.uk</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Koichiro</givenNames><familyName>Sakai</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ken‐Ya</givenNames><familyName>Murata</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Misuzu</givenNames><familyName>Saiki</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Megumi</givenNames><familyName>Nakanishi</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yoko</givenNames><familyName>Kitagawa</familyName><degrees>AS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Muichi</givenNames><familyName>Kaito</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yuichiro</givenNames><familyName>Gondo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Toshihide</givenNames><familyName>Kumamoto</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Makoto</givenNames><familyName>Matsui</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Nobutaka</givenNames><familyName>Hattori</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Genjiro</givenNames><familyName>Hirose</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="JP" type="organization"><unparsedAffiliation>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">chorea‐acanthocytosis</keyword><keyword xml:id="kwd2">neuroacanthocytosis</keyword><keyword xml:id="kwd3">chorein</keyword><keyword xml:id="kwd4">skeletal muscle</keyword></keywordGroup><fundingInfo><fundingAgency>Kanazawa Medical University</fundingAgency><fundingNumber>S2003, 2004‐11</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Primary skeletal muscle involvement in chorea‐acanthocytosis</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Primary Skeletal Muscle Involvement in ChAc</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Primary skeletal muscle involvement in chorea‐acanthocytosis</title></titleInfo><name type="personal"><namePart type="given">Shinji</namePart><namePart type="family">Saiki</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><description>Correspondence: Department of Medical Genetics, Cambridge Institute for Medical Genetics, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0XY, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Koichiro</namePart><namePart type="family">Sakai</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ken‐Ya</namePart><namePart type="family">Murata</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Misuzu</namePart><namePart type="family">Saiki</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Megumi</namePart><namePart type="family">Nakanishi</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoko</namePart><namePart type="family">Kitagawa</namePart><namePart type="termsOfAddress">AS</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Muichi</namePart><namePart type="family">Kaito</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yuichiro</namePart><namePart type="family">Gondo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Toshihide</namePart><namePart type="family">Kumamoto</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Makoto</namePart><namePart type="family">Matsui</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nobutaka</namePart><namePart type="family">Hattori</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Genjiro</namePart><namePart type="family">Hirose</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-04-30</dateIssued><dateCaptured encoding="w3cdtf">2005-08-12</dateCaptured><dateValid encoding="w3cdtf">2007-01-17</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">1</extent><extent unit="references">21</extent><extent unit="words">3091</extent></physicalDescription><abstract 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. © 2007 Movement Disorder Society</abstract><note type="funding">Kanazawa Medical University - No. S2003, 2004‐11; </note><subject lang="en"><genre>Keywords</genre><topic>chorea‐acanthocytosis</topic><topic>neuroacanthocytosis</topic><topic>chorein</topic><topic>skeletal muscle</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>848</start><end>852</end><total>5</total></extent></part></relatedItem><identifier type="istex">46DA4A146A0C8662334A1598C3929C614D87C28D</identifier><identifier type="DOI">10.1002/mds.21437</identifier><identifier type="ArticleID">MDS21437</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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