Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Neurol Sci. 2011 Feb;32(1):35-40. doi: 10.1007/s10072-010-0360-z. Epub 2010 Jul 7.
Mutations in the Parkin, PINK1, and DJ-1 genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of the Parkin, PINK1 and DJ-1 genes, respectively, with a dopamine transporter ligand [(11)C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [(11)C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [(11)C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes.
Parkin、PINK1 和 DJ-1 基因突变可导致常染色体隐性遗传早发性帕金森病。我们使用多巴胺转运体配体 [(11)C]-CFT 正电子发射断层扫描研究了分别携带 Parkin、PINK1 和 DJ-1 基因突变的三个家系。所有这些患者均发现 [(11)C]-CFT 摄取出现明显的双侧和非对称减少，且壳核和尾状核均受到影响。我们还发现无症状的 Parkin 和 PINK1 杂合子的 [(11)C]-CFT 摄取也有轻度但显著的减少，但 DJ-1 杂合子则没有这种现象。我们的研究结果表明，这三种常染色体隐性遗传早发性帕金森病在病理生理学上是相似的，Parkin 和 PINK1 杂合子存在亚临床疾病过程，但 DJ-1 杂合子则没有。
