Movement Disorders (revue)

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Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease

Identifieur interne : 001276 ( PascalFrancis/Corpus ); précédent : 001275; suivant : 001277

Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease

Auteurs : Kazuaki Kanai ; Satoshi Kuwabara ; Setsu Sawai ; Miho Nakata ; Sonoko Misawa ; Sagiri Isose ; Shigeki Hirano ; Naoki Kawaguchi ; Kaoru Katayama ; Takamichi Hattori

Source :

RBID : Pascal:08-0247756

Descripteurs français

English descriptors

Abstract

We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain asyet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 23
A06       @2 5
A08 01  1  ENG  @1 Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease
A11 01  1    @1 KANAI (Kazuaki)
A11 02  1    @1 KUWABARA (Satoshi)
A11 03  1    @1 SAWAI (Setsu)
A11 04  1    @1 NAKATA (Miho)
A11 05  1    @1 MISAWA (Sonoko)
A11 06  1    @1 ISOSE (Sagiri)
A11 07  1    @1 HIRANO (Shigeki)
A11 08  1    @1 KAWAGUCHI (Naoki)
A11 09  1    @1 KATAYAMA (Kaoru)
A11 10  1    @1 HATTORI (Takamichi)
A14 01      @1 Department of Neurology, Chiba University Graduate School of Medicine @2 Chiba @3 JPN @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 10 aut.
A14 02      @1 Department of Neurology, Narita Red Cross Hospital @2 Narita @3 JPN @Z 9 aut.
A20       @1 748-751
A21       @1 2008
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000173776990200
A44       @0 0000 @1 © 2008 INIST-CNRS. All rights reserved.
A45       @0 10 ref.
A47 01  1    @0 08-0247756
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain asyet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C03 01  X  FRE  @0 Chorée de Huntington @5 01
C03 01  X  ENG  @0 Huntington disease @5 01
C03 01  X  SPA  @0 Corea Huntington @5 01
C03 02  X  FRE  @0 Maladie du neurone moteur @5 02
C03 02  X  ENG  @0 Motor neuron disease @5 02
C03 02  X  SPA  @0 Neurona motora enfermedad @5 02
C03 03  X  FRE  @0 Sclérose latérale amyotrophique @5 03
C03 03  X  ENG  @0 Amyotrophic lateral sclerosis @5 03
C03 03  X  SPA  @0 Esclerosis lateral amiotrófica @5 03
C03 04  X  FRE  @0 Atrophie @5 04
C03 04  X  ENG  @0 Atrophy @5 04
C03 04  X  SPA  @0 Atrofia @5 04
C03 05  X  FRE  @0 Pathologie du système nerveux @5 05
C03 05  X  ENG  @0 Nervous system diseases @5 05
C03 05  X  SPA  @0 Sistema nervioso patología @5 05
C03 06  X  FRE  @0 Diagnostic différentiel @5 09
C03 06  X  ENG  @0 Differential diagnostic @5 09
C03 06  X  SPA  @0 Diagnóstico diferencial @5 09
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 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Maladie héréditaire @5 40
C07 04  X  ENG  @0 Genetic disease @5 40
C07 04  X  SPA  @0 Enfermedad hereditaria @5 40
C07 05  X  FRE  @0 Pathologie du système nerveux central @5 41
C07 05  X  ENG  @0 Central nervous system disease @5 41
C07 05  X  SPA  @0 Sistema nervosio central patología @5 41
C07 06  X  FRE  @0 Pathologie de la moelle épinière @5 43
C07 06  X  ENG  @0 Spinal cord disease @5 43
C07 06  X  SPA  @0 Médula espinal patología @5 43
N21       @1 162
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 08-0247756 INIST
ET : Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease
AU : KANAI (Kazuaki); KUWABARA (Satoshi); SAWAI (Setsu); NAKATA (Miho); MISAWA (Sonoko); ISOSE (Sagiri); HIRANO (Shigeki); KAWAGUCHI (Naoki); KATAYAMA (Kaoru); HATTORI (Takamichi)
AF : Department of Neurology, Chiba University Graduate School of Medicine/Chiba/Japon (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 10 aut.); Department of Neurology, Narita Red Cross Hospital/Narita/Japon (9 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 5; Pp. 748-751; Bibl. 10 ref.
LA : Anglais
EA : We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain asyet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.
CC : 002B17; 002B17G
FD : Chorée de Huntington; Maladie du neurone moteur; Sclérose latérale amyotrophique; Atrophie; Pathologie du système nerveux; Diagnostic différentiel
FG : Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central; Pathologie de la moelle épinière
ED : Huntington disease; Motor neuron disease; Amyotrophic lateral sclerosis; Atrophy; Nervous system diseases; Differential diagnostic
EG : Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Spinal cord disease
SD : Corea Huntington; Neurona motora enfermedad; Esclerosis lateral amiotrófica; Atrofia; Sistema nervioso patología; Diagnóstico diferencial
LO : INIST-20953.354000173776990200
ID : 08-0247756

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Pascal:08-0247756

Le document en format XML

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<title xml:lang="en" level="a">Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease</title>
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<term>Amyotrophic lateral sclerosis</term>
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<term>Differential diagnostic</term>
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<term>Motor neuron disease</term>
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<div type="abstract" xml:lang="en">We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain asyet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.</div>
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<NO>PASCAL 08-0247756 INIST</NO>
<ET>Genetically Confirmed Huntington's Disease Masquerading as Motor Neuron Disease</ET>
<AU>KANAI (Kazuaki); KUWABARA (Satoshi); SAWAI (Setsu); NAKATA (Miho); MISAWA (Sonoko); ISOSE (Sagiri); HIRANO (Shigeki); KAWAGUCHI (Naoki); KATAYAMA (Kaoru); HATTORI (Takamichi)</AU>
<AF>Department of Neurology, Chiba University Graduate School of Medicine/Chiba/Japon (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 10 aut.); Department of Neurology, Narita Red Cross Hospital/Narita/Japon (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 5; Pp. 748-751; Bibl. 10 ref.</SO>
<LA>Anglais</LA>
<EA>We describe a patient with Huntington's disease (HD) who showed asymmetrical upper nmo amyoiropny as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain asyet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.</EA>
<CC>002B17; 002B17G</CC>
<FD>Chorée de Huntington; Maladie du neurone moteur; Sclérose latérale amyotrophique; Atrophie; Pathologie du système nerveux; Diagnostic différentiel</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central; Pathologie de la moelle épinière</FG>
<ED>Huntington disease; Motor neuron disease; Amyotrophic lateral sclerosis; Atrophy; Nervous system diseases; Differential diagnostic</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Spinal cord disease</EG>
<SD>Corea Huntington; Neurona motora enfermedad; Esclerosis lateral amiotrófica; Atrofia; Sistema nervioso patología; Diagnóstico diferencial</SD>
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