Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Identifieur interne : 000B65 ( PascalFrancis/Checkpoint ); précédent : 000B64; suivant : 000B66Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Anthony E. Lang [Canada] ; Elena Moro [Canada] ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.
Affiliations:
- Allemagne, Canada, Royaume-Uni
- Angleterre, Bavière, District de Haute-Bavière, Grand Londres, Ontario
- Londres, Munich, Toronto
- Université Louis-et-Maximilien de Munich, Université de Toronto
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Schneider</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>1 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0377353</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0377353 INIST</idno><idno type="RBID">Pascal:10-0377353</idno><idno type="wicri:Area/PascalFrancis/Corpus">000985</idno><idno type="wicri:Area/PascalFrancis/Curation">002334</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000B65</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>1 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytosis</term><term>Chorea</term><term>Head</term><term>Nervous system diseases</term><term>Trunk</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term><term>Acanthocytose</term><term>Pathologie du système nerveux</term><term>Tête</term><term>Tronc</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</s1></fA08><fA11 i1="01" i2="1"><s1>SCHNEIDER (Susanne A.)</s1></fA11><fA11 i1="02" i2="1"><s1>LANG (Anthony E.)</s1></fA11><fA11 i1="03" i2="1"><s1>MORO (Elena)</s1></fA11><fA11 i1="04" i2="1"><s1>BADER (Benedikt)</s1></fA11><fA11 i1="05" i2="1"><s1>DANEK (Adrian)</s1></fA11><fA11 i1="06" i2="1"><s1>BHATIA (Kailash P.)</s1></fA11><fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>1 aut.</sZ></fA14><fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></fA14><fA20><s1>1487-1491</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000194762830230</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. 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Schneider</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name></country><country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></noRegion><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></country><country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></region><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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