Parkinson's Disease: From Genetics to Clinical Practice

被引:19
作者
Clarimon, Jordi
Kulisevsky, Jaime
机构
[1] Univ Autonoma Barcelona, Hosp St Pau, Inst Invest Biomed St Pau, Dept Neurol, E-08193 Barcelona, Spain
[2] Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
关键词
Genetics; Parkinson's disease; Mendelian genes; Genetic testing; PARK; Clinical genetics; Genetic risk factor; GENOME-WIDE ASSOCIATION; ALPHA-SYNUCLEIN; GLUCOCEREBROSIDASE MUTATIONS; JUVENILE PARKINSONISM; PINK1; MUTATIONS; RISK-FACTORS; DEMENTIA; SUSCEPTIBILITY; PLA2G6; LOCUS;
D O I
10.2174/1389202914666131210212305
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Breakthroughs in genetics over the last decade have radically advanced our understanding of the etiological basis of Parkinson's disease (PD). Although much research remains to be done, the main genetic causes of this neurodegenerative disorder are now partially unraveled, allowing us to feel more confident that our knowledge about the genetic architecture of PD will continue to increase exponentially. How and when these discoveries will be introduced into general clinical practice, however, remains uncertain. In this review, we provide a general summary of the progress in the genetics of PD and discuss how this knowledge will contribute to the diagnosis and clinical management of patients with, or at risk of this disorder.
引用
收藏
页码:560 / 567
页数:8
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