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Movement Disorders (revue)

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Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome

Identifieur interne : 002313 ( PascalFrancis/Corpus ); précédent : 002312; suivant : 002314

Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome

Auteurs : José L. Molinuevo ; Maria J. Marti ; Rafael Blesa ; Eduardo Tolosa

Source :

RBID : Pascal:04-0129997

Descripteurs français

English descriptors

Abstract

Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A→G and 1172T→C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.

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 18
A06       @2 11
A08 01  1  ENG  @1 Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome
A11 01  1    @1 MOLINUEVO (José L.)
A11 02  1    @1 MARTI (Maria J.)
A11 03  1    @1 BLESA (Rafael)
A11 04  1    @1 TOLOSA (Eduardo)
A14 01      @1 Servei de Neurologia, ICMSN, Hospital Clínic i Universitari @2 Barcelona @3 ESP @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.
A20       @1 1351-1353
A21       @1 2003
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000118857050210
A44       @0 0000 @1 © 2004 INIST-CNRS. All rights reserved.
A45       @0 13 ref.
A47 01  1    @0 04-0129997
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A→G and 1172T→C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.
C02 01  X    @0 002B17G
C03 01  X  FRE  @0 Dégénérescence globus pallidus Hallervorden Spatz @5 01
C03 01  X  ENG  @0 Hallervorden Spatz disease @5 01
C03 01  X  SPA  @0 Degeneración globo pálido Hallervorden Spatz @5 01
C03 02  X  FRE  @0 Akinésie @5 04
C03 02  X  ENG  @0 Akinesia @5 04
C03 02  X  SPA  @0 Aquinesia @5 04
C03 03  X  FRE  @0 Imagerie RMN @5 07
C03 03  X  ENG  @0 Nuclear magnetic resonance imaging @5 07
C03 03  X  SPA  @0 Imaginería RMN @5 07
C03 04  X  FRE  @0 Enregistrement vidéo @5 10
C03 04  X  ENG  @0 Video recording @5 10
C03 04  X  SPA  @0 Registro vídeo @5 10
C03 05  X  FRE  @0 Etude familiale @5 16
C03 05  X  ENG  @0 Family study @5 16
C03 05  X  SPA  @0 Estudio familiar @5 16
C03 06  X  FRE  @0 Symptomatologie @5 17
C03 06  X  ENG  @0 Symptomatology @5 17
C03 06  X  SPA  @0 Sintomatología @5 17
C03 07  X  FRE  @0 Homme @5 20
C03 07  X  ENG  @0 Human @5 20
C03 07  X  SPA  @0 Hombre @5 20
C03 08  X  FRE  @0 Etude cas @5 23
C03 08  X  ENG  @0 Case study @5 23
C03 08  X  SPA  @0 Estudio caso @5 23
C07 01  X  FRE  @0 Virose @2 NM
C07 01  X  ENG  @0 Viral disease @2 NM
C07 01  X  SPA  @0 Virosis @2 NM
C07 02  X  FRE  @0 Infection @2 NM
C07 02  X  ENG  @0 Infection @2 NM
C07 02  X  SPA  @0 Infección @2 NM
C07 03  X  FRE  @0 Système nerveux pathologie @5 37
C07 03  X  ENG  @0 Nervous system diseases @5 37
C07 03  X  SPA  @0 Sistema nervioso patología @5 37
C07 04  X  FRE  @0 Système nerveux central pathologie @5 38
C07 04  X  ENG  @0 Central nervous system disease @5 38
C07 04  X  SPA  @0 Sistema nervosio central patología @5 38
C07 05  X  FRE  @0 Encéphale pathologie @5 39
C07 05  X  ENG  @0 Cerebral disorder @5 39
C07 05  X  SPA  @0 Encéfalo patología @5 39
C07 06  X  FRE  @0 Maladie héréditaire @5 40
C07 06  X  ENG  @0 Genetic disease @5 40
C07 06  X  SPA  @0 Enfermedad hereditaria @5 40
C07 07  X  FRE  @0 Trouble neurologique @5 48
C07 07  X  ENG  @0 Neurological disorder @5 48
C07 07  X  SPA  @0 Trastorno neurológico @5 48
C07 08  X  FRE  @0 Trouble moteur @5 49
C07 08  X  ENG  @0 Motor system disorder @5 49
C07 08  X  SPA  @0 Trastorno motor @5 49
C07 09  X  FRE  @0 Imagerie médicale @5 53
C07 09  X  ENG  @0 Medical imagery @5 53
C07 09  X  SPA  @0 Imaginería médica @5 53
N21       @1 082
N82       @1 PSI

Format Inist (serveur)

NO : PASCAL 04-0129997 INIST
ET : Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome
AU : MOLINUEVO (José L.); MARTI (Maria J.); BLESA (Rafael); TOLOSA (Eduardo)
AF : Servei de Neurologia, ICMSN, Hospital Clínic i Universitari/Barcelona/Espagne (1 aut., 2 aut., 3 aut., 4 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2003; Vol. 18; No. 11; Pp. 1351-1353; Bibl. 13 ref.
LA : Anglais
EA : Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A→G and 1172T→C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.
CC : 002B17G
FD : Dégénérescence globus pallidus Hallervorden Spatz; Akinésie; Imagerie RMN; Enregistrement vidéo; Etude familiale; Symptomatologie; Homme; Etude cas
FG : Virose; Infection; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Maladie héréditaire; Trouble neurologique; Trouble moteur; Imagerie médicale
ED : Hallervorden Spatz disease; Akinesia; Nuclear magnetic resonance imaging; Video recording; Family study; Symptomatology; Human; Case study
EG : Viral disease; Infection; Nervous system diseases; Central nervous system disease; Cerebral disorder; Genetic disease; Neurological disorder; Motor system disorder; Medical imagery
SD : Degeneración globo pálido Hallervorden Spatz; Aquinesia; Imaginería RMN; Registro vídeo; Estudio familiar; Sintomatología; Hombre; Estudio caso
LO : INIST-20953.354000118857050210
ID : 04-0129997

Links to Exploration step

Pascal:04-0129997

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<NO>PASCAL 04-0129997 INIST</NO>
<ET>Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome</ET>
<AU>MOLINUEVO (José L.); MARTI (Maria J.); BLESA (Rafael); TOLOSA (Eduardo)</AU>
<AF>Servei de Neurologia, ICMSN, Hospital Clínic i Universitari/Barcelona/Espagne (1 aut., 2 aut., 3 aut., 4 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2003; Vol. 18; No. 11; Pp. 1351-1353; Bibl. 13 ref.</SO>
<LA>Anglais</LA>
<EA>Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A→G and 1172T→C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.</EA>
<CC>002B17G</CC>
<FD>Dégénérescence globus pallidus Hallervorden Spatz; Akinésie; Imagerie RMN; Enregistrement vidéo; Etude familiale; Symptomatologie; Homme; Etude cas</FD>
<FG>Virose; Infection; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Maladie héréditaire; Trouble neurologique; Trouble moteur; Imagerie médicale</FG>
<ED>Hallervorden Spatz disease; Akinesia; Nuclear magnetic resonance imaging; Video recording; Family study; Symptomatology; Human; Case study</ED>
<EG>Viral disease; Infection; Nervous system diseases; Central nervous system disease; Cerebral disorder; Genetic disease; Neurological disorder; Motor system disorder; Medical imagery</EG>
<SD>Degeneración globo pálido Hallervorden Spatz; Aquinesia; Imaginería RMN; Registro vídeo; Estudio familiar; Sintomatología; Hombre; Estudio caso</SD>
<LO>INIST-20953.354000118857050210</LO>
<ID>04-0129997</ID>
</server>
</inist>
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