The emergence of Parkinson disease among patients with Gaucher disease

Publication date: Available online 23 August 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Deborah Elstein , Roy Alcalay , Ari Zimran 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.
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research