The Genetics of Parkinson's Disease and Implications for Clinical Practice

被引：136

作者：

Day, Jacob Oliver ^{[1
]}

Mullin, Stephen ^{[1
,2
]}

机构：

[1] Univ Plymouth, Fac Hlth, Plymouth PL4 8AA, Devon, England

[2] UCL, Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, England

来源：

GENES | 2021年 / 12卷 / 07期

关键词：

Parkinson's disease; genetics; precision medicine; clinical trials; monogenic; polygenic; GENOME-WIDE ASSOCIATION; GENOTYPE-PHENOTYPE CORRELATIONS; ALPHA-SYNUCLEIN GENE; GAUCHER-DISEASE; RISK-FACTORS; COMPREHENSIVE ANALYSIS; JUVENILE PARKINSONISM; ALA53THR MUTATION; MOTOR PROGRESSION; COGNITIVE DECLINE;

D O I：

10.3390/genes12071006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications for therapeutics and clinical trial design.

引用

页数：23

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