Kishore A, Wszolek Z K, Snow B J, de la Fuente-Fernandez R, Arwert F, Wijker M, Schulzer M, Calne D B, Vingerhoets F J
Neurodegenerative Disorders Center, Vancouver Hospital and Health Sciences Center, Vancouver, British Columbia, Canada.
Neurology. 1996 Dec;47(6):1588-90. doi: 10.1212/wnl.47.6.1588.
Pallido-ponto-nigral degeneration (PPND) is a dominantly inherited disorder with parkinsonism. We performed PET with [18F]fluorodopa (FD) and, later, gene testing in 12 asymptomatic relatives at risk from a family with PPND and compared the striatal FD uptake constant (Ki) in them with 4 symptomatic individuals and 10 normal control subjects. Four relatives with positive linkage had a significantly reduced Ki from the normal control subjects but to a lesser degree than the symptomatic patients. The mean Ki in the relatives with negative linkage (n = 8) did not differ from normal control subjects. In conclusion, we identified reduced dopaminergic function in asymptomatic relatives with positive genetic linkage from the PPND family. Most of the reduction in this disorder occurs in the fifth decade, when the disease manifests clinically.
苍白球-脑桥-黑质变性（PPND）是一种具有帕金森综合征的常染色体显性遗传病。我们对一个PPND家族中12名有患病风险的无症状亲属进行了[18F]氟多巴（FD）PET检查，随后进行了基因检测，并将他们的纹状体FD摄取常数（Ki）与4名有症状个体和10名正常对照受试者进行了比较。4名连锁阳性的亲属的Ki较正常对照受试者显著降低，但程度低于有症状患者。连锁阴性的亲属（n = 8）的平均Ki与正常对照受试者无差异。总之，我们在PPND家族中连锁阳性的无症状亲属中发现了多巴胺能功能降低。这种疾病的大部分功能降低发生在临床症状出现的第五个十年。
