Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC, Canada.
Okanagan Southern Medical Program, University of British Columbia, Kelowna, BC, Canada.
Int Rev Neurobiol. 2018;142:177-223. doi: 10.1016/bs.irn.2018.09.003. Epub 2018 Oct 12.
Most cases of Parkinson's disease (PD) are idiopathic, but some characteristics, such as early onset or a positive family history, raise suspicions of an inherited form of the disease. In the last decades several genes have been linked to parkinsonism, with different patterns of inheritance and different clinical phenotypes. Positron emission tomography (PET) imaging has helped to characterize genetic-linked parkinsonism, thanks to the availability of dopaminergic and nondopaminergic tracers. On the other hand, investigation of molecular changes in mutation carriers, even at preclinical stages, has provided a deeper comprehension of the pathogenesis of PD and of the compensatory mechanisms that take place in the very early stages of the disease.
大多数帕金森病(PD)病例是特发性的,但有些特征,如发病早或阳性家族史,使人怀疑存在遗传性疾病。在过去几十年中,已有多个基因与帕金森病相关,具有不同的遗传模式和不同的临床表型。正电子发射断层扫描(PET)成像通过提供多巴胺能和非多巴胺能示踪剂,有助于对遗传相关帕金森病进行特征描述。另一方面,即使在临床前阶段,对突变携带者的分子变化的研究也提供了对 PD 发病机制和疾病早期发生的代偿机制的更深入理解。