Wszolek Z K, Pfeiffer B, Fulgham J R, Parisi J E, Thompson B M, Uitti R J, Calne D B, Pfeiffer R F
Section of Neurology, University of Nebraska Medical Center, Omaha 68198-2045.
Neurology. 1995 Mar;45(3 Pt 1):502-5. doi: 10.1212/wnl.45.3.502.
The etiology of Parkinson's disease (PD) remains uncertain. Environmental influences may have an important role, but genetic factors have been firmly implicated in several recently reported kindreds. We studied a family (family D) whose ancestors probably immigrated to the United States from England. The pedigree contains 188 individuals spanning six generations with 18 affected members. Autosomal dominant inheritance is present. Typical levodopa-responsive PD with bradykinesia, rigidity, resting tremor, and impaired postural reflexes develops. Eye movement abnormalities, pyramidal and cerebellar signs, sensory disturbances, and orthostatic blood pressure changes do not occur. Disease progression is slow. PET with [18F]-6-fluoro-L-dopa (FD) performed on an affected individual revealed decreased uptake of FD in a pattern consistent with PD. Autopsy performed on another affected individual demonstrated neuronal and pigmentary loss, gliosis, and Lewy bodies in the substantia nigra pars compacta. This large kindred appears to represent a neurodegenerative disorder closely resembling, if not identical to, idiopathic PD.
帕金森病（PD）的病因仍不明确。环境因素可能起重要作用，但在最近报道的几个家族中，遗传因素已被确凿证实与之相关。我们研究了一个家族（家族D），其祖先可能从英国移民到美国。该谱系包含六代共188人，其中18名患病成员。呈常染色体显性遗传。出现典型的左旋多巴反应性帕金森病，伴有运动迟缓、僵硬、静止性震颤和姿势反射受损。未出现眼球运动异常、锥体束和小脑体征、感觉障碍以及直立性血压变化。疾病进展缓慢。对一名患病个体进行的[18F]-6-氟-L-多巴（FD）正电子发射断层扫描（PET）显示，FD摄取减少，其模式与帕金森病一致。对另一名患病个体进行的尸检显示，黑质致密部存在神经元和色素脱失、神经胶质增生以及路易小体。这个大家系似乎代表了一种神经退行性疾病，即便与特发性帕金森病不完全相同，也极为相似。
