- 作者: Chin-Hsien Lin; Kai-Yuan Tzen; Chin-Yi Yu; Chun-Hwei Tai; Matthew J. Farrer; Ruey-Meei Wu
- 作者服務機構: Department of Neurology, National Taiwan University Hospital,College of Medicine, National Taiwan University, Taiwan; Department of Nuclear Medicine, National Taiwan UniversityHospital, College of Medicine, National Taiwan University,Taipei, Taiwan
- 中文摘要: --
- 英文摘要: Pathogenic mutations in leucine-rich repeatkinase 2 (LRRK2) cause autosomal-dominant familial Parkinson’sdisease (PD). We performed clinical, imaging, andmolecular functional studies in one family with the R1441Hand six families with the G2385R variants of Lrrk2. Todetermine the contribution of these variants to familial PD inTaiwanese, we screened 32 Taiwanese or ethnic Chinesepatients with familial PD for four pathogenic substitutions(R1441H, I2012T, I2020T, and G2019S) and one susceptibilitypolymorphism (G2385R). The frequencies of R1441Hand G2385R were 3.7% and 22.2%, respectively. G2019S,I2012T, and I2020T were not detected. The clinical phenotypesand [18F]-dopa PET findings for subjects with R1441Hor G2385R resembled those of patients with idiopathic PD;however, their lymphoblastoid cell lines showed increasedapoptosis following exposure to a proteosome inhibitor.Thus, LRRK2 mutations are rare in Taiwanese with familialPD. Further study is needed to identify causative genes orunique biomarkers for familial PD.
- 中文關鍵字: --
- 英文關鍵字: LRRK2; Parkinson's disease; PET; Taiwanese; Chinese