The emergence of Parkinson disease among patients with Gaucher disease

被引:12
作者
Elstein, Deborah [1 ]
Alcalay, Roy [2 ,3 ]
Zimran, Ari [1 ]
机构
[1] Hebrew Univ Jerusalem, Sch Med, Shaare Zedek Med Ctr, Gaucher Clin, IL-91010 Jerusalem, Israel
[2] Columbia Univ, Med Ctr, Dept Neurol, New York, NY USA
[3] Columbia Univ, Med Ctr, Taub Inst, New York, NY USA
关键词
alpha-synuclein; beta-glucocerebrosidase; Gaucher disease; Parkinson disease; GBA MUTATION CARRIERS; ALPHA-SYNUCLEIN; GLUCOCEREBROSIDASE MUTATIONS; EARLY-ONSET; PHARMACOLOGICAL CHAPERONE; RISK-FACTOR; GENE; AMBROXOL; OSTEOPONTIN; ASSOCIATION;
D O I
10.1016/j.beem.2014.08.007
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:249 / 259
页数:11
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