Nicholl D J, Vaughan J R, Khan N L, Ho S L, Aldous D E W, Lincoln S, Farrer M, Gayton J D, Davis M B, Piccini P, Daniel S E, Lennox G G, Brooks D J, Williams A C, Wood N W
Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK.
Brain. 2002 Jan;125(Pt 1):44-57. doi: 10.1093/brain/awf013.
We present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [(18)F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.
我们展示了一项对两个大型非亲缘性常染色体显性帕金森病家系的研究结果。对受影响成员进行了临床评估以及[（18）F]6-氟多巴正电子发射断层扫描（PET），结果显示他们与散发性帕金森病患者并无差异。在其中一个家系中，一名受影响成员随后接受了尸检，发现路易小体的分布与散发性帕金森病典型分布一致。这些家系与其他已确定基因位点（PARK1 - 4）的帕金森病家系不同，为家族性帕金森病的基因异质性提供了进一步证据。
