Movement Disorders (revue)

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Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

Identifieur interne : 000D96 ( PascalFrancis/Corpus ); précédent : 000D95; suivant : 000D97

Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

Auteurs : Ichraf Kraoua ; Jérôme Stimemann ; Maria Joao Ribeiro ; Tiphaine Rouaud ; Marc Verin ; Agnès Annic ; Christian Rose ; Luc Defebvre ; Liliane Remenieras ; Mich L Schüpbach ; Nadia Belmatoug ; Marie Vidailhet ; Frédéric Sedel

Source :

RBID : Pascal:09-0358935

Descripteurs français

English descriptors

Abstract

Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08 01  1  ENG  @1 Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature
A11 01  1    @1 KRAOUA (Ichraf)
A11 02  1    @1 STIMEMANN (Jérôme)
A11 03  1    @1 RIBEIRO (Maria Joao)
A11 04  1    @1 ROUAUD (Tiphaine)
A11 05  1    @1 VERIN (Marc)
A11 06  1    @1 ANNIC (Agnès)
A11 07  1    @1 ROSE (Christian)
A11 08  1    @1 DEFEBVRE (Luc)
A11 09  1    @1 REMENIERAS (Liliane)
A11 10  1    @1 SCHÜPBACH (Michäl)
A11 11  1    @1 BELMATOUG (Nadia)
A11 12  1    @1 VIDAILHET (Marie)
A11 13  1    @1 SEDEL (Frédéric)
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A14 02      @1 Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique-Hôpitaux de Paris, Paris XIII University @3 FRA @Z 2 aut.
A14 03      @1 Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA @2 Orsay @3 FRA @Z 3 aut.
A14 04      @1 Department of Neurology, University Hospital of Rennes @2 Rennes @3 FRA @Z 4 aut. @Z 5 aut.
A14 05      @1 Department of Neurology, University Hospital of Lille @2 Lille @3 FRA @Z 6 aut. @Z 8 aut.
A14 06      @1 Department of Onco-Haematology, Saint Vincent de Paul Hospital @2 Lille @3 FRA @Z 7 aut.
A14 07      @1 Department of Haematology, University Hospitals of Limoges @2 Limoges @3 FRA @Z 9 aut.
A14 08      @1 Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris @3 FRA @Z 11 aut.
A14 09      @1 INSERM U679, Pierre et Marie Curie (Paris 6) University @3 FRA @Z 12 aut.
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A66 01      @0 USA
C01 01    ENG  @0 Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.
C02 01  X    @0 002B17
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C03 04  X  ENG  @0 Lewy body dementia @2 NM @5 04
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C03 05  X  FRE  @0 Pathologie du système nerveux @5 05
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C03 05  X  SPA  @0 Sistema nervioso patología @5 05
C03 06  X  FRE  @0 Lipide @5 78
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C03 06  X  SPA  @0 Lípido @5 78
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C07 01  X  ENG  @0 Cerebral disorder @5 38
C07 01  X  SPA  @0 Encéfalo patología @5 38
C07 02  X  FRE  @0 Enzymopathie @5 39
C07 02  X  ENG  @0 Enzymopathy @5 39
C07 02  X  SPA  @0 Enzimopatía @5 39
C07 03  X  FRE  @0 Lipoïdose @5 40
C07 03  X  ENG  @0 Lipoidosis @5 40
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C07 05  X  SPA  @0 Metabolismo patología @5 42
C07 06  X  FRE  @0 Pathologie du système nerveux central @5 43
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Format Inist (serveur)

NO : PASCAL 09-0358935 INIST
ET : Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature
AU : KRAOUA (Ichraf); STIMEMANN (Jérôme); RIBEIRO (Maria Joao); ROUAUD (Tiphaine); VERIN (Marc); ANNIC (Agnès); ROSE (Christian); DEFEBVRE (Luc); REMENIERAS (Liliane); SCHÜPBACH (Michäl); BELMATOUG (Nadia); VIDAILHET (Marie); SEDEL (Frédéric)
AF : Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, 2 Assistance Publique-Hôpitaux de Paris/France (1 aut., 10 aut., 12 aut., 13 aut.); Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique-Hôpitaux de Paris, Paris XIII University/France (2 aut.); Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA/Orsay/France (3 aut.); Department of Neurology, University Hospital of Rennes/Rennes/France (4 aut., 5 aut.); Department of Neurology, University Hospital of Lille/Lille/France (6 aut., 8 aut.); Department of Onco-Haematology, Saint Vincent de Paul Hospital/Lille/France (7 aut.); Department of Haematology, University Hospitals of Limoges/Limoges/France (9 aut.); Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris/France (11 aut.); INSERM U679, Pierre et Marie Curie (Paris 6) University/France (12 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 10; Pp. 1524-1530; Bibl. 32 ref.
LA : Anglais
EA : Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.
CC : 002B17; 002B17G
FD : Parkinsonisme; Sphingolipidose héréditaire de Gaucher; Maladie de Parkinson; Démence à corps de Lewy; Pathologie du système nerveux; Lipide
FG : Pathologie de l'encéphale; Enzymopathie; Lipoïdose; Maladie héréditaire; Maladie métabolique; Pathologie du système nerveux central; Syndrome extrapyramidal; Maladie dégénérative
ED : Parkinsonism; Gaucher disease; Parkinson disease; Lewy body dementia; Nervous system diseases; Lipids
EG : Cerebral disorder; Enzymopathy; Lipoidosis; Genetic disease; Metabolic diseases; Central nervous system disease; Extrapyramidal syndrome; Degenerative disease
SD : Parkinson síndrome; Esfingolipidosis hereditaria Gaucher; Parkinson enfermedad; Demencia cuerpos Lewy; Sistema nervioso patología; Lípido
LO : INIST-20953.354000187543670150
ID : 09-0358935

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Pascal:09-0358935

Le document en format XML

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<sup>2 </sup>
Assistance Publique-Hôpitaux de Paris</s1>
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<name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name>
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<div type="abstract" xml:lang="en">Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.</div>
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<AU>KRAOUA (Ichraf); STIMEMANN (Jérôme); RIBEIRO (Maria Joao); ROUAUD (Tiphaine); VERIN (Marc); ANNIC (Agnès); ROSE (Christian); DEFEBVRE (Luc); REMENIERAS (Liliane); SCHÜPBACH (Michäl); BELMATOUG (Nadia); VIDAILHET (Marie); SEDEL (Frédéric)</AU>
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<EA>Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.</EA>
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