Piccini P, Morrish P K, Turjanski N, Sawle G V, Burn D J, Weeks R A, Mark M H, Maraganore D M, Lees A J, Brooks D J
Medical Research Council Cyclotron Unit, Hammersmith Hospital, London, United Kingdom.
Ann Neurol. 1997 Feb;41(2):222-9. doi: 10.1002/ana.410410213.
There is increasing evidence for familial aggregation in Parkinson's disease (PD). It is possible that some asymptomatic relatives of PD patients have subclinical nigral Lewy body pathology and their identification could help determine the true prevalence of the disease. We used 18F-dopa positron emission tomography to investigate nigrostriatal dopaminergic terminal function in asymptomatic members of 7 unrelated kindreds in which at least 2 members had parkinsonism. Eight (25%) of the 32 asymptomatic relatives showed abnormal putamen 18F-dopa uptake (2.5 standard deviations below the normal mean). When discriminant function analysis was applied, all of these 8 subjects plus another 3 were classified with high probability as having PD. On neurological examination, 5 of the 32 relatives scanned had an isolated mild postural tremor and 2 of these 5 had reduced putamen uptake. Our findings provide further support for a role of inheritance in the etiology of PD and suggest that the penetrance for nigrostriatal dopaminergic dysfunction in familial clusters of PD is higher than the prevalence of clinical parkinsonism reported in epidemiological surveys.
帕金森病（PD）存在家族聚集性的证据越来越多。帕金森病患者的一些无症状亲属可能存在亚临床黑质路易体病理改变，识别出这些亲属有助于确定该病的真实患病率。我们使用18F - 多巴正电子发射断层扫描来研究7个不相关家系中无症状成员的黑质纹状体多巴胺能终末功能，这些家系中至少有2名成员患有帕金森症。32名无症状亲属中有8名（25%）显示壳核18F - 多巴摄取异常（低于正常均值2.5个标准差）。当应用判别函数分析时，这8名受试者中的所有成员以及另外3名受试者被高概率分类为患有帕金森病。在神经学检查中，接受扫描的32名亲属中有5名有孤立的轻度姿势性震颤，其中2名壳核摄取减少。我们的研究结果为遗传因素在帕金森病病因学中的作用提供了进一步支持，并表明帕金森病家族聚集人群中黑质纹状体多巴胺能功能障碍的外显率高于流行病学调查中报告的临床帕金森症患病率。
