A case of dysferlinopathy presenting choreic movements
Identifieur interne : 003612 ( Main/Exploration ); précédent : 003611; suivant : 003613A case of dysferlinopathy presenting choreic movements
Auteurs : Toshiaki Takahashi [Japon] ; Masashi Aoki [Japon] ; Takashi Imai [Japon] ; Masaru Yoshioka [Japon] ; Hidehiko Konno [Japon] ; Shuichi Higano [Japon] ; Yoshiaki Onodera [Japon] ; Hiroshi Saito [Japon] ; Itaru Kimura [Japon] ; Yasuto Itoyama [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Brain (pathology), Chorea, Chorea (diagnosis), Chorea (genetics), Codon, Cysteine (genetics), DNA Mutational Analysis, Homozygote, Humans, Limb girdle muscular dystrophy, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Mental Status Schedule, Middle Aged, Muscle Proteins (genetics), Muscular Dystrophies, Limb-Girdle (diagnosis), Muscular Dystrophies, Limb-Girdle (genetics), Nervous system diseases, Neurologic Examination, Nucleotide Mapping, Trypsin (genetics), chorea, dysferlin, limb–girdle muscular dystrophy type 2B.
- MESH :
- chemical , genetics : Cysteine, Membrane Proteins, Muscle Proteins, Trypsin.
- chemical : Codon.
- diagnosis : Chorea, Muscular Dystrophies, Limb-Girdle.
- genetics : Chorea, Muscular Dystrophies, Limb-Girdle.
- pathology : Brain.
- DNA Mutational Analysis, Homozygote, Humans, Magnetic Resonance Imaging, Male, Mental Status Schedule, Middle Aged, Neurologic Examination, Nucleotide Mapping.
Abstract
Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21027
Affiliations:
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Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Imai, Takashi" sort="Imai, Takashi" uniqKey="Imai T" first="Takashi" last="Imai">Takashi Imai</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Yoshioka, Masaru" sort="Yoshioka, Masaru" uniqKey="Yoshioka M" first="Masaru" last="Yoshioka">Masaru Yoshioka</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Konno, Hidehiko" sort="Konno, Hidehiko" uniqKey="Konno H" first="Hidehiko" last="Konno">Hidehiko Konno</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Higano, Shuichi" sort="Higano, Shuichi" uniqKey="Higano S" first="Shuichi" last="Higano">Shuichi Higano</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Radiology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Onodera, Yoshiaki" sort="Onodera, Yoshiaki" uniqKey="Onodera Y" first="Yoshiaki" last="Onodera">Yoshiaki Onodera</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Saito, Hiroshi" sort="Saito, Hiroshi" uniqKey="Saito H" first="Hiroshi" last="Saito">Hiroshi Saito</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Kimura, Itaru" sort="Kimura, Itaru" uniqKey="Kimura I" first="Itaru" last="Kimura">Itaru Kimura</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1513">1513</biblScope><biblScope unit="page" to="1515">1515</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0FBB58D583A2CCF9CC421E988AC85991334D7815</idno><idno type="DOI">10.1002/mds.21027</idno><idno type="ArticleID">MDS21027</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term><term>Chorea</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>Codon</term><term>Cysteine (genetics)</term><term>DNA Mutational Analysis</term><term>Homozygote</term><term>Humans</term><term>Limb girdle muscular dystrophy</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Muscle Proteins (genetics)</term><term>Muscular Dystrophies, Limb-Girdle (diagnosis)</term><term>Muscular Dystrophies, Limb-Girdle (genetics)</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Nucleotide Mapping</term><term>Trypsin (genetics)</term><term>chorea</term><term>dysferlin</term><term>limb–girdle muscular dystrophy type 2B</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term><term>Membrane Proteins</term><term>Muscle Proteins</term><term>Trypsin</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Muscular Dystrophies, Limb-Girdle</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Muscular Dystrophies, Limb-Girdle</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Homozygote</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Nucleotide Mapping</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chorée syndrome</term><term>Dystrophie musculaire progressive ceintures</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Takahashi, Toshiaki" sort="Takahashi, Toshiaki" uniqKey="Takahashi T" first="Toshiaki" last="Takahashi">Toshiaki Takahashi</name></noRegion><name sortKey="Aoki, Masashi" sort="Aoki, Masashi" uniqKey="Aoki M" first="Masashi" last="Aoki">Masashi Aoki</name><name sortKey="Higano, Shuichi" sort="Higano, Shuichi" uniqKey="Higano S" first="Shuichi" last="Higano">Shuichi Higano</name><name sortKey="Imai, Takashi" sort="Imai, Takashi" uniqKey="Imai T" first="Takashi" last="Imai">Takashi Imai</name><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name><name sortKey="Kimura, Itaru" sort="Kimura, Itaru" uniqKey="Kimura I" first="Itaru" last="Kimura">Itaru Kimura</name><name sortKey="Konno, Hidehiko" sort="Konno, Hidehiko" uniqKey="Konno H" first="Hidehiko" last="Konno">Hidehiko Konno</name><name sortKey="Onodera, Yoshiaki" sort="Onodera, Yoshiaki" uniqKey="Onodera Y" first="Yoshiaki" last="Onodera">Yoshiaki Onodera</name><name sortKey="Saito, Hiroshi" sort="Saito, Hiroshi" uniqKey="Saito H" first="Hiroshi" last="Saito">Hiroshi Saito</name><name sortKey="Yoshioka, Masaru" sort="Yoshioka, Masaru" uniqKey="Yoshioka M" first="Masaru" last="Yoshioka">Masaru Yoshioka</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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