Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 29, Issue 2, Pages 249-259Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.beem.2014.08.007
Keywords
alpha-synuclein; beta-glucocerebrosidase; Gaucher disease; Parkinson disease
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In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and subcellular mechanisms of the inter-relatedness of beta-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. (C). 2014 Elsevier Ltd. All rights reserved.
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