Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
Neurosci Lett. 2012 May 16;516(2):207-11. doi: 10.1016/j.neulet.2012.03.086. Epub 2012 Apr 5.
Autosomal dorminant Parkinson's disease (ADPD) has been associated with mutations in the SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes. We studied the prevalence of variants in all five genes in 12 Chinese unrelated families with ADPD and 4 families with both essential tremor (ET) and Parkinson's disease (PD) phenotypes using direct sequencing analysis. We found 27 variants in the LRRK2 gene, eight in GIGYF2 gene, three in the SCNA and UCHL1 gene respectively, in which five variants were novel. However, no pathogenic mutations in the five genes were found in these families. Our result indicated that SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes' mutations might not be a main reason for Chinese ADPD.
常染色体显性遗传帕金森病（ADPD）与 SCA N、LRRK2、UCHL1、HtrA2 和 GIGYF2 基因突变有关。我们使用直接测序分析，研究了这五个基因中的变异在 12 个中国无关 ADPD 家族和 4 个既有原发性震颤（ET）又有帕金森病（PD）表型的家族中的流行情况。我们在 LRRK2 基因中发现了 27 个变异，在 GIGYF2 基因中发现了 8 个，在 SCA N 和 UCHL1 基因中分别发现了 3 个，其中 5 个是新的变异。然而，在这些家族中并未发现这五个基因中的致病突变。我们的结果表明，SCA N、LRRK2、UCHL1、HtrA2 和 GIGYF2 基因突变可能不是中国 ADPD 的主要原因。
