Recent advances in Parkinson's disease genetics

被引：73

作者：

Lubbe, Steven ^{[1
]}

Morris, Huw R. ^{[1
,2
]}

机构：

[1] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF14 4XN, S Glam, Wales

[2] Univ Wales Hosp, Cardiff CF14 4XN, S Glam, Wales

来源：

JOURNAL OF NEUROLOGY | 2014年 / 261卷 / 02期

基金：

英国医学研究理事会;

关键词：

Parkinson's disease; Genetics; Genome wide-association study; LRRK2; Parkin; GBA; GENOME-WIDE ASSOCIATION; KINASE; 2; LRRK2; ALPHA-SYNUCLEIN; GLUCOCEREBROSIDASE MUTATIONS; GAUCHER-DISEASE; HEREDITARY PARKINSONISM; VPS35; MUTATIONS; RISK-FACTORS; PINK1; IDENTIFICATION;

D O I：

10.1007/s00415-013-7003-2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The last 5 years have seen rapid progress in Parkinson's disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mendelian and non-Mendelian factors in PD. Pathways involved in mitochondrial quality control (mitophagy), lysosomal function and immune function are emerging as important in the pathogenesis of PD. These pathways represent a target for therapeutic intervention and a way in which the heterogeneity of disease cause, as well as disease mechanism, can be established. In the future, there is likely to be an individualised basis for the treatment of PD, linked to the identification of specific genetic factors.

引用

页码：259 / 266

页数：8

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