title: The emergence of Parkinson disease among patients with Gaucher disease.
abstract: In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level. It has been an unexpected happenstance that it has been discovered that a rare monogenetic disease has an interface at many points with a neurological disorder of the elderly that has both familial and sporadic forms: to date there is no cure for either of these disorders.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem Israel. Electronic address: elstein@szmc.org.il.
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.affiliation: Department of Neurology and the Taub Institute, Columbia University Medical Center, New York, NY, USA. Electronic address: rna2104@cumc.columbia.edu.
authors.forename: Roy
authors.initials: R
authors.lastname: Alcalay
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem Israel. Electronic address: azimran@gmail.com.
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D005776:Gaucher Disease / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics*
chemical_list: D005962:Glucosylceramidase
keywords: Gaucher disease; Parkinson disease; α-synuclein; β-glucocerebrosidase