title: Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
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.
authors.affiliation: Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Ichraf
authors.initials: I
authors.lastname: Kraoua
authors.forename: Jérôme
authors.initials: J
authors.lastname: Stirnemann
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Ribeiro
authors.forename: Tiphaine
authors.initials: T
authors.lastname: Rouaud
authors.forename: Marc
authors.initials: M
authors.lastname: Verin
authors.forename: Agnès
authors.initials: A
authors.lastname: Annic
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
authors.forename: Luc
authors.initials: L
authors.lastname: Defebvre
authors.forename: Liliane
authors.initials: L
authors.lastname: Réménieras
authors.forename: Michaël
authors.initials: M
authors.lastname: Schüpbach
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
mesh_terms: D000328:Adult; D000368:Aged; D003952:Diagnostic Imaging; D005776:Gaucher Disease / Q000145:classification / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000209:etiology* / Q000235:genetics / Q000473:pathology / Q000628:therapy
chemical_list: D005962:Glucosylceramidase