Are genetic and idiopathic forms of Parkinson's disease the same disease?

被引:30
作者
Guedes, Leonor Correia [1 ,2 ]
Mestre, Tiago [3 ]
Outeiro, Tiago F. [4 ,5 ,6 ]
Ferreira, Joaquim J. [7 ]
机构
[1] CHU Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal
[2] Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal
[3] Univ Ottawa, Ottawa Hosp Res Inst, Brain & Res Inst,Div Neurol, Parkinsons Dis & Movement Disorders Ctr,Dept Med, Ottawa, ON, Canada
[4] Univ Med Ctr Gottingen, Ctr Biostruct Imaging Neurodegenerat, Dept Expt Neurodegenerat, Gottingen, Germany
[5] Max Planck Inst Expt Med, Gottingen, Germany
[6] Newcastle Univ, Med Sch, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England
[7] CNS, Torres Vedras, Portugal
关键词
Parkinson's disease; genetic; monogenic; idiopathic; alpha-synuclein; AUTOSOMAL-DOMINANT PARKINSONISM; DIAGNOSTIC-CRITERIA; LRRK2; MUTATIONS; PENETRANCE; G2019S; FOUNDER; RISK; NEUROPATHOLOGY; IDENTIFICATION; SUBSTITUTION;
D O I
10.1111/jnc.14902
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
Genetic forms represent a small fraction of Parkinson's disease (PD) but their discovery has revolutionized research in the field, putting alpha- in the spotlight, and uncovering other key neuropathological mechanisms of the disease. The question of whether genetic and idiopathic PD (iPD) correspond to a same disease entity is not simply philosophical, has implications for the discovery of the biological background of PD and for the development of novel therapeutic strategies that may also be applicable to the larger iPD group. Here, we review the current landscape of what has been labeled genetic PD and critically discuss the rational for merging or separating genetic and idiopathic forms of PD as the same or different disease entities. We conclude by addressing the potential implications for future research.
引用
收藏
页码:515 / 522
页数:8
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