Cossu Giovanni, van Doeselaar Marina, Deriu Marcello, Melis Maurizio, Molari Andrea, Di Fonzo Alessio, Oostra Ben A, Bonifati Vincenzo
Neurology Service and Stroke Unit, General Hospital S. Michele AOB G. Brotzu, Piazzale Ricchi 1, 09134 Cagliari, Italy.
Parkinsonism Relat Disord. 2007 Feb;13(1):17-21. doi: 10.1016/j.parkreldis.2006.06.010. Epub 2006 Oct 24.
The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. We studied the prevalence of these mutations in Sardinia, a Mediterranean genetic isolate with peculiar structure and similarities with the Basque population. Among 98 Sardinian PD probands we detected one heterozygous Gly2019Ser carrier. This mutation was also found in one of 55 Sardinian controls, an 85-year-old man, later shown to have a positive family history of parkinsonism. No carriers of Arg1441Gly, Arg1441Cys, or Arg1441His mutations were found among cases and controls. Our results suggest that the "Basque"LRRK2 mutation is absent or very rare in Sardinia. The Gly2019Ser mutation is present but its frequency is lower than that in Iberian, Arab, or Jewish populations. The identification of an 85-year-old, healthy Gly2019Ser carrier supports the concept that this mutation displays incomplete penetrance.
富含亮氨酸重复激酶2（LRRK2）基因的Gly2019Ser突变在阿拉伯、犹太和伊比利亚人群的帕金森病（PD）患者中很常见，而另一种突变Arg1441Gly在巴斯克人群中很常见。我们研究了这些突变在撒丁岛的患病率，撒丁岛是一个地中海遗传隔离群体，其结构独特，与巴斯克人群有相似之处。在98名撒丁岛PD先证者中，我们检测到一名杂合Gly2019Ser携带者。在55名撒丁岛对照者中的一名85岁男性中也发现了这种突变，该男性后来被证明有帕金森病家族史阳性。在病例组和对照组中均未发现Arg1441Gly、Arg1441Cys或Arg1441His突变的携带者。我们的结果表明，“巴斯克”LRRK2突变在撒丁岛不存在或非常罕见。Gly2019Ser突变存在但其频率低于伊比利亚、阿拉伯或犹太人群。一名85岁健康的Gly2019Ser携带者的鉴定支持了这种突变表现出不完全外显率的概念。
