Literature DB >> 25987177

The emergence of Parkinson disease among patients with Gaucher disease.

Deborah Elstein1, Roy Alcalay2, Ari Zimran3.   

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.
Copyright © 2014 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Gaucher disease; Parkinson disease; α-synuclein; β-glucocerebrosidase

Mesh:

Substances:

Year:  2014        PMID: 25987177     DOI: 10.1016/j.beem.2014.08.007

Source DB:  PubMed          Journal:  Best Pract Res Clin Endocrinol Metab        ISSN: 1521-690X            Impact factor:   4.690


  8 in total

1.  Role of plasminogen activator inhibitor-1 in the diagnosis and prognosis of patients with Parkinson's disease.

Authors:  Hong Pan; Ying Zhao; Zhengping Zhai; Jinyu Zheng; Yong Zhou; Qijin Zhai; Xiangyang Cao; Jisha Tian; Liandong Zhao
Journal:  Exp Ther Med       Date:  2018-04-17       Impact factor: 2.447

2.  DMS as an orthogonal separation to LC/ESI/MS/MS for quantifying isomeric cerebrosides in plasma and cerebrospinal fluid.

Authors:  Hongbin Xu; Frederic R Boucher; Thao T Nguyen; Graeme P Taylor; Julianna J Tomlinson; Roberto A Ortega; Brigitte Simons; Michael G Schlossmacher; Rachel Saunders-Pullman; Walt Shaw; Steffany A L Bennett
Journal:  J Lipid Res       Date:  2018-11-09       Impact factor: 5.922

Review 3.  Gaucher disease - more than just a rare lipid storage disease.

Authors:  Jaehyeok Roh; Subbaya Subramanian; Neal J Weinreb; Reena V Kartha
Journal:  J Mol Med (Berl)       Date:  2022-01-23       Impact factor: 4.599

4.  Parkinson disease in Gaucher disease.

Authors:  Federico Rodriguez-Porcel; Alberto J Espay; Miryam Carecchio
Journal:  J Clin Mov Disord       Date:  2017-05-23

5.  Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Authors:  Matheus V M B Wilke; Alícia D Dornelles; Artur S Schuh; Filippo P Vairo; Suelen P Basgalupp; Marina Siebert; Tatiele Nalin; Otavio B Piltcher; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2019-05-10       Impact factor: 4.123

6.  Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.

Authors:  Aimee Donald; Chong Y Tan; Anupam Chakrapani; Derralyn A Hughes; Reena Sharma; Duncan Cole; Stanislav Bardins; Martin Gorges; Simon A Jones; Erich Schneider
Journal:  Orphanet J Rare Dis       Date:  2020-12-17       Impact factor: 4.123

7.  Molecular docking investigation of the amantadine binding to the enzymes upregulated or downregulated in Parkinson's disease.

Authors:  Mihaela Ileana Ionescu
Journal:  ADMET DMPK       Date:  2020-06-15

Review 8.  Profile of eliglustat tartrate in the management of Gaucher disease.

Authors:  Annalisa Sechi; Andrea Dardis; Bruno Bembi
Journal:  Ther Clin Risk Manag       Date:  2016-01-11       Impact factor: 2.423

  8 in total

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