Parkinsonism in Gaucher’s disease type 1: Ten new cases and a review of the literature

http://www3.interscience.wiley.com/journal/122441884/abstract?CRETRY=1&SRETRY=0

Frédéric Sedel (frederic.sedel@psl.aphp.fr)

Ichraf Kraoua, MD 1, Jérôme Stirnemann, MD 2, Maria João Ribeiro, MD, PhD 3, Tiphaine Rouaud, MD 4, Marc Verin, MD, PhD 4, Agnès Annic, MD 5, Christian Rose, MD, PhD 6, Luc Defebvre, MD, PhD 5, Liliane Réménieras, MD 7, Michaël Schüpbach, MD 1, Nadia Belmatoug, MD 8, Marie Vidailhet, MD 1 9, Frédéric Sedel, MD, PhD 1 *
1Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, France 2Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique-Hôpitaux de Paris, Paris X111 University, France 3Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA, Orsay, France 4Department of Neurology, University Hospital of Rennes, Rennes, France 5Department of Neurology, University Hospital of Lille, Lille, France 6Department of Onco-Haematology, Saint Vincent de Paul Hospital, Lille, France 7Department of Haematology, University Hospitals of Limoges, Limoges, France 8Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris, France 9INSERM U679, Pierre et Marie Curie (Paris 6) University, France
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^*Correspondence to Frédéric Sedel, Federation of Nervous System Diseases and Reference Centre for Lysosomal Diseases, Salpêtrière Hospital, 47 Boulevard de l’Hôpital, 75651 Paris cedex 13, France

Potential conflict of interest: None reported.

Funded by:
 Genzyme

Keywords

Gaucher • glucocerebrosidase • parkinsonism • Parkinson’s disease • Lewy body dementia

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. © 2009 Movement Disorder Society