Pal P K, Wszolek Z K, Uitti R, Markopoulou K, Calne S M, Stoessl A J, Calne D B
National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
Parkinsonism Relat Disord. 2001 Sep;8(1):51-6. doi: 10.1016/s1353-8020(01)00008-6.
Positron emission tomography (PET) scan is considered to be the most useful tool with which to assess the integrity of nigrostriatal function in the living brain. Recently, different genetic defects have been associated with a variety of familial parkinsonian syndromes, the clinical phenotypes of which have varying degrees of similarities to idiopathic parkinsonism (IP), (sporadic Parkinson's disease). This review summarizes: (1) the PET scan findings (fluorodopa uptake and raclopride binding) in both familial parkinsonian syndromes and IP; and (2) the similarities and differences of the clinical and PET features between familial parkinsonian syndromes and IP. This analysis demonstrates that more similarities than differences exist in PET scan findings in the different familial parkinsonian syndromes with the exception of pallido-ponto-nigral degeneration (PPND), that is perhaps best considered as multisystem degeneration. As a result of this analysis, we believe that while different genetic defects may underlie different mechanisms of nigrostriatal degeneration, the final pattern of nigrostriatal dysfunction is essentially similar to that of IP. 'Parkinson's disease', therefore, may not represent a single disease entity, but rather the final manifestation of different pathogenetic mechanisms-mediated by genetic or environmental factors, or an interaction of genetic and environmental factors.
正电子发射断层扫描（PET）被认为是评估活体大脑黑质纹状体功能完整性最有用的工具。最近，不同的基因缺陷与多种家族性帕金森综合征相关，这些综合征的临床表型与特发性帕金森病（IP，散发性帕金森病）有不同程度的相似性。本综述总结了：（1）家族性帕金森综合征和IP的PET扫描结果（氟多巴摄取和雷氯必利结合）；（2）家族性帕金森综合征和IP在临床及PET特征方面的异同。该分析表明，除苍白球-脑桥-黑质变性（PPND）外，不同家族性帕金森综合征的PET扫描结果中相似之处多于差异，PPND可能最好被视为多系统变性。基于此分析，我们认为，虽然不同的基因缺陷可能是黑质纹状体变性不同机制的基础，但黑质纹状体功能障碍的最终模式与IP基本相似。因此，“帕金森病”可能并不代表单一的疾病实体，而是由遗传或环境因素介导的不同致病机制的最终表现，或者是遗传和环境因素相互作用的结果。
