Lu C S, Chou Y H Wu, Weng Y H, Chen R S
Movement Disorders Section, Department of Neurology and Neuroscience Research Center, Human Molecular Genetic Laboratory, Chang Gung Memorial Hospital and Chang Gung University, Taiwan.
J Neural Transm Suppl. 2006(70):235-40. doi: 10.1007/978-3-211-45295-0_36.
We here summarize the results of genetic investigations on a series of 82 parkinsonian patients from 60 families in Taiwan. We found 13 parkin patients in 7 families (12%), 2 PINK1 sibs from 1 family, and 1 LRRK2 patient from 1 family with I2012T mutation. We also identified SCA2 in 8 patients from 5 families (8%) and SCA3 in 3 patients from 1 family, all presenting with parkinsonian phenotype. In the available patients with parkin, PINK1, SCA2 and SCA3, the dopamine transporter (DAT) scan revealed that the reduction of uptake was primarily observed in the bilateral putamen, basically sharing a similar pattern with that in idiopathic Parkinson's disease. We concluded that the genetic causes contributed to about 25% of our series of familial parkinsonism. The parkin mutations and SCA2 were the most frequent genetic causes in our series with Chinese ethnicity. The results of DAT scan indicated that bilateral putamen was essentially involved in various genetically-caused familial parkinsonism.
我们在此总结了对台湾60个家庭的82名帕金森病患者进行基因研究的结果。我们在7个家庭中发现了13名帕金蛋白患者（12%），在1个家庭中发现了2名PINK1基因携带者，在1个家庭中发现了1名携带I2012T突变的LRRK2患者。我们还在5个家庭的8名患者中鉴定出SCA2（8%），在1个家庭的3名患者中鉴定出SCA3，所有这些患者均表现出帕金森病表型。在现有的帕金蛋白、PINK1、SCA2和SCA3患者中，多巴胺转运体（DAT）扫描显示，摄取减少主要见于双侧壳核，基本与特发性帕金森病的模式相似。我们得出结论，基因因素在我们这一系列家族性帕金森综合征中约占25%。帕金蛋白突变和SCA2是我们这一系列具有中国血统患者中最常见的基因因素。DAT扫描结果表明，双侧壳核在各种基因引起的家族性帕金森综合征中基本都会受累。
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