Primary skeletal muscle involvement in chorea‐acanthocytosis
Identifieur interne : 001758 ( Istex/Checkpoint ); précédent : 001757; suivant : 001759Primary 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
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
Affiliations:
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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><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Saiki, Shinji" sort="Saiki, Shinji" uniqKey="Saiki S" first="Shinji" last="Saiki">Shinji Saiki</name></noRegion><name sortKey="Gondo, Yuichiro" sort="Gondo, Yuichiro" uniqKey="Gondo Y" first="Yuichiro" last="Gondo">Yuichiro Gondo</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hirose, Genjiro" sort="Hirose, Genjiro" uniqKey="Hirose G" first="Genjiro" last="Hirose">Genjiro Hirose</name><name sortKey="Kaito, Muichi" sort="Kaito, Muichi" uniqKey="Kaito M" first="Muichi" last="Kaito">Muichi Kaito</name><name sortKey="Kitagawa, Yoko" sort="Kitagawa, Yoko" uniqKey="Kitagawa Y" first="Yoko" last="Kitagawa">Yoko Kitagawa</name><name sortKey="Kumamoto, Toshihide" sort="Kumamoto, Toshihide" uniqKey="Kumamoto T" first="Toshihide" last="Kumamoto">Toshihide Kumamoto</name><name sortKey="Matsui, Makoto" sort="Matsui, Makoto" uniqKey="Matsui M" first="Makoto" last="Matsui">Makoto Matsui</name><name sortKey="Murata, Ken A" sort="Murata, Ken A" uniqKey="Murata K" first="Ken-Ya" last="Murata">Ken-Ya Murata</name><name sortKey="Nakanishi, Megumi" sort="Nakanishi, Megumi" uniqKey="Nakanishi M" first="Megumi" last="Nakanishi">Megumi Nakanishi</name><name sortKey="Saiki, Misuzu" sort="Saiki, Misuzu" uniqKey="Saiki M" first="Misuzu" last="Saiki">Misuzu Saiki</name><name sortKey="Sakai, Koichiro" sort="Sakai, Koichiro" uniqKey="Sakai K" first="Koichiro" last="Sakai">Koichiro Sakai</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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