Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
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.
Kraoua
Ichraf
I
Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, France.
Stirnemann
Jérôme
J
Ribeiro
Maria João
MJ
Rouaud
Tiphaine
T
Verin
Marc
M
Annic
Agnès
A
Rose
Christian
C
Defebvre
Luc
L
Réménieras
Liliane
L
Schüpbach
Michaël
M
Belmatoug
Nadia
N
Vidailhet
Marie
M
Sedel
Frédéric
F
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
D005962:Glucosylceramidase