Parkinson disease in Gaucher disease

Federico Rodriguez-Porcel; Alberto J Espay; Miryam Carecchio

doi:10.1186/s40734-017-0054-2

Parkinson disease in Gaucher disease

J Clin Mov Disord. 2017 May 23:4:7. doi: 10.1186/s40734-017-0054-2. eCollection 2017.

Authors

Federico Rodriguez-Porcel¹, Alberto J Espay¹, Miryam Carecchio^{2

3

4}

Affiliations

¹ James J. and Joan A. Gardner Center for Parkinson disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, 260 Stetson St., Suite 2300, Cincinnati, OH 45267-0525 USA.
² Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
³ Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
⁴ Department of Molecular and Translational Medicine, University of Milan-Bicocca, Milan, Italy.

Abstract

Background: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.

Case presentation: We report two patients with GD that developed PD at different disease stages.

Conclusion: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited.

Keywords: Gaucher disease; Glucocerebrosidase; Parkinson disease.

Publication types

Case Reports