Primary skeletal muscle involvement in chorea‐acanthocytosis
Identifieur interne : 003B72 ( Main/Merge ); précédent : 003B71; suivant : 003B73Primary skeletal muscle involvement in chorea‐acanthocytosis
Auteurs : Shinji Saiki [Japon] ; Koichiro Sakai [Japon] ; Ken-Ya Murata [Japon] ; Misuzu Saiki [Japon] ; Megumi Nakanishi [Japon] ; Yoko Kitagawa [Japon] ; Muichi Kaito [Japon] ; Yuichiro Gondo [Japon] ; Toshihide Kumamoto [Japon] ; Makoto Matsui [Japon] ; Nobutaka Hattori [Japon] ; Genjiro Hirose [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
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), chorea‐acanthocytosis, chorein, neuroacanthocytosis, skeletal muscle.
- 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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21437
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xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></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 (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><term>chorea‐acanthocytosis</term><term>chorein</term><term>neuroacanthocytosis</term><term>skeletal muscle</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><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><double doi="10.1002/mds.21437"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><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></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 A" sort="Murata, Ken A" 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">ISTEX</idno><idno type="RBID">ISTEX:46DA4A146A0C8662334A1598C3929C614D87C28D</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21437</idno><idno type="url">https://api.istex.fr/document/46DA4A146A0C8662334A1598C3929C614D87C28D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002B56</idno><idno type="wicri:Area/Istex/Curation">002B56</idno><idno type="wicri:Area/Istex/Checkpoint">001758</idno><idno type="wicri:doubleKey">0885-3185:2007:Saiki S:primary:skeletal:muscle</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Sakai, Koichiro" sort="Sakai, Koichiro" uniqKey="Sakai K" first="Koichiro" last="Sakai">Koichiro Sakai</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Saiki, Misuzu" sort="Saiki, Misuzu" uniqKey="Saiki M" first="Misuzu" last="Saiki">Misuzu Saiki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Nakanishi, Megumi" sort="Nakanishi, Megumi" uniqKey="Nakanishi M" first="Megumi" last="Nakanishi">Megumi Nakanishi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Kitagawa, Yoko" sort="Kitagawa, Yoko" uniqKey="Kitagawa Y" first="Yoko" last="Kitagawa">Yoko Kitagawa</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Kaito, Muichi" sort="Kaito, Muichi" uniqKey="Kaito M" first="Muichi" last="Kaito">Muichi Kaito</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Gondo, Yuichiro" sort="Gondo, Yuichiro" uniqKey="Gondo Y" first="Yuichiro" last="Gondo">Yuichiro Gondo</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Kumamoto, Toshihide" sort="Kumamoto, Toshihide" uniqKey="Kumamoto T" first="Toshihide" last="Kumamoto">Toshihide Kumamoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama‐Machi Oita 879‐5593</wicri:regionArea><wicri:noRegion>Hasama‐Machi Oita 879‐5593</wicri:noRegion></affiliation></author><author><name sortKey="Matsui, Makoto" sort="Matsui, Makoto" uniqKey="Matsui M" first="Makoto" last="Matsui">Makoto Matsui</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐Ku, Tokyo 113‐8421</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hirose, Genjiro" sort="Hirose, Genjiro" uniqKey="Hirose G" first="Genjiro" last="Hirose">Genjiro Hirose</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kanazawa Medical University, 1‐1 Daigaku, Uchinada, Kahoku, Ishikawa 920‐0293</wicri:regionArea><wicri:noRegion>Ishikawa 920‐0293</wicri:noRegion></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><PubMed><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><wicri:noRegion>Ishikawa 920-0293</wicri:noRegion></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><idno type="wicri:Area/PubMed/Checkpoint">002622</idno><idno type="wicri:Area/Ncbi/Merge">001B18</idno><idno type="wicri:Area/Ncbi/Curation">001B18</idno><idno type="wicri:Area/Ncbi/Checkpoint">001B18</idno><idno type="wicri:doubleKey">0885-3185:2007:Saiki S:primary:skeletal:muscle</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><wicri:noRegion>Ishikawa 920-0293</wicri:noRegion></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></double></record>Pour manipuler ce document sous Unix (Dilib)
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