Gasser T
Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
Ann Neurol. 1998 Sep;44(3 Suppl 1):S53-7. doi: 10.1002/ana.410440708.
A genetic contribution to the etiology of Lewy body Parkinson's disease (PD) is now well established, based on the demonstration of a familial aggregation of the disease by case-control and twin studies and on the description of large multigenerational families in whom clinically and pathologically typical PD is inherited in an autosomal dominant fashion. In the largest of these families, a gene locus has been mapped to the long arm of chromosome 4 and a putative disease-causing mutation has been identified in the gene for alpha-synuclein. However, analysis of a large number of individuals with sporadic and familial PD suggests that a mutation in this gene is a very rare cause of the disorder, either familial or sporadic. Another locus for autosomal dominantly inherited Lewy body PD has recently been mapped to chromosome 2p13. Possible strategies for the identification of further PD genes are discussed.
基于病例对照研究和双胞胎研究对路易体帕金森病（PD）家族聚集性的证明，以及对临床上和病理上典型的PD以常染色体显性方式遗传的大型多代家族的描述，现在已经充分证实了基因在路易体帕金森病病因学中的作用。在这些家族中最大的家族里，一个基因位点已被定位于4号染色体长臂，并且在α-突触核蛋白基因中已鉴定出一个假定的致病突变。然而，对大量散发性和家族性PD个体的分析表明，该基因的突变无论是在家族性还是散发性疾病中都是非常罕见的病因。另一个常染色体显性遗传的路易体PD基因位点最近已被定位于2p13染色体。文中讨论了鉴定更多PD基因的可能策略。
