Movement Disorders (revue)

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Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis

Identifieur interne : 002334 ( PascalFrancis/Curation ); précédent : 002333; suivant : 002335

Characteristic 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 :

RBID : Pascal:10-0377353

Descripteurs français

English descriptors

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.
pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 25
A06       @2 10
A08 01  1  ENG  @1 Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
A11 01  1    @1 SCHNEIDER (Susanne A.)
A11 02  1    @1 LANG (Anthony E.)
A11 03  1    @1 MORO (Elena)
A11 04  1    @1 BADER (Benedikt)
A11 05  1    @1 DANEK (Adrian)
A11 06  1    @1 BHATIA (Kailash P.)
A14 01      @1 Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square @2 London @3 GBR @Z 1 aut. @Z 6 aut.
A14 02      @1 Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck @2 Lübeck @3 DEU @Z 1 aut.
A14 03      @1 Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN @2 Toronto, Ontario @3 CAN @Z 2 aut. @Z 3 aut.
A14 04      @1 Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München @2 Munich @3 DEU @Z 4 aut. @Z 5 aut.
A20       @1 1487-1491
A21       @1 2010
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000194762830230
A44       @0 0000 @1 © 2010 INIST-CNRS. All rights reserved.
A45       @0 15 ref.
A47 01  1    @0 10-0377353
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 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.
C02 01  X    @0 002B17
C02 02  X    @0 002B16B
C03 01  X  FRE  @0 Syndrome choréique @5 01
C03 01  X  ENG  @0 Chorea @5 01
C03 01  X  SPA  @0 Corea síndrome @5 01
C03 02  X  FRE  @0 Acanthocytose @5 02
C03 02  X  ENG  @0 Acanthocytosis @5 02
C03 02  X  SPA  @0 Acantocitosis @5 02
C03 03  X  FRE  @0 Pathologie du système nerveux @5 03
C03 03  X  ENG  @0 Nervous system diseases @5 03
C03 03  X  SPA  @0 Sistema nervioso patología @5 03
C03 04  X  FRE  @0 Tête @5 09
C03 04  X  ENG  @0 Head @5 09
C03 04  X  SPA  @0 Cabeza @5 09
C03 05  X  FRE  @0 Tronc @5 10
C03 05  X  ENG  @0 Trunk @5 10
C03 05  X  SPA  @0 Tronco @5 10
C07 01  X  FRE  @0 Pathologie de l'encéphale @5 37
C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Syndrome extrapyramidal @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Mouvement involontaire @5 39
C07 03  X  ENG  @0 Involuntary movement @5 39
C07 03  X  SPA  @0 Movimiento involuntario @5 39
C07 04  X  FRE  @0 Pathologie du système nerveux central @5 40
C07 04  X  ENG  @0 Central nervous system disease @5 40
C07 04  X  SPA  @0 Sistema nervosio central patología @5 40
C07 05  X  FRE  @0 Trouble neurologique @5 42
C07 05  X  ENG  @0 Neurological disorder @5 42
C07 05  X  SPA  @0 Trastorno neurológico @5 42
C07 06  X  FRE  @0 Anémie hémolytique @5 43
C07 06  X  ENG  @0 Hemolytic anemia @5 43
C07 06  X  SPA  @0 Anemia hemolítica @5 43
C07 07  X  FRE  @0 Anomalie de la membrane érythrocytaire @5 44
C07 07  X  ENG  @0 Erythrocytic membrane disease @5 44
C07 07  X  SPA  @0 Anomalía membrana hematía @5 44
C07 08  X  FRE  @0 Hémopathie @5 45
C07 08  X  ENG  @0 Hemopathy @5 45
C07 08  X  SPA  @0 Hemopatía @5 45
N21       @1 242
N44 01      @1 OTO
N82       @1 OTO

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Le document en format XML

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<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>
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<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE">
<s0>Anémie hémolytique</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG">
<s0>Hemolytic anemia</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA">
<s0>Anemia hemolítica</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE">
<s0>Anomalie de la membrane érythrocytaire</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG">
<s0>Erythrocytic membrane disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA">
<s0>Anomalía membrana hematía</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE">
<s0>Hémopathie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG">
<s0>Hemopathy</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA">
<s0>Hemopatía</s0>
<s5>45</s5>
</fC07>
<fN21>
<s1>242</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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