Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
Identifieur interne : 002699 ( Ncbi/Curation ); précédent : 002698; suivant : 002700Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
Auteurs : Ichraf Kraoua [France] ; Jérôme Stirnemann ; Maria João Ribeiro ; Tiphaine Rouaud ; Marc Verin ; Agnès Annic ; Christian Rose ; Luc Defebvre [France] ; Liliane Réménieras ; Michaël Schüpbach ; Nadia Belmatoug ; Marie Vidailhet ; Frédéric SedelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Aged, Diagnostic Imaging, Gaucher Disease (classification), Gaucher Disease (complications), Gaucher Disease (genetics), Gaucher Disease (pathology), Glucosylceramidase (genetics), Glucosylceramidase (metabolism), Humans, Male, Middle Aged, Parkinsonian Disorders (etiology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonian Disorders (therapy).
- MESH :
- chemical , genetics : Glucosylceramidase.
- classification : Gaucher Disease.
- complications : Gaucher Disease.
- etiology : Parkinsonian Disorders.
- genetics : Gaucher Disease, Parkinsonian Disorders.
- chemical , metabolism : Glucosylceramidase.
- pathology : Gaucher Disease, Parkinsonian Disorders.
- therapy : Parkinsonian Disorders.
- Adult, Aged, Diagnostic Imaging, Humans, Male, Middle Aged.
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.
DOI: 10.1002/mds.22593
PubMed: 19513999
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Disorders</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Gaucher Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Diagnostic Imaging</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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