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LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies.
J Biomed Sci. 2008 Sep; 15(5):661-7.JB

Abstract

Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal-dominant familial Parkinson's disease (PD). We performed clinical, imaging, and molecular functional studies in one family with the R1441H and six families with the G2385R variants of Lrrk2. To determine the contribution of these variants to familial PD in Taiwanese, we screened 32 Taiwanese or ethnic Chinese patients with familial PD for four pathogenic substitutions (R1441H, I2012T, I2020T, and G2019S) and one susceptibility polymorphism (G2385R). The frequencies of R1441H and G2385R were 3.7% and 22.2%, respectively. G2019S, I2012T, and I2020T were not detected. The clinical phenotypes and [(18)F]-dopa PET findings for subjects with R1441H or G2385R resembled those of patients with idiopathic PD; however, their lymphoblastoid cell lines showed increased apoptosis following exposure to a proteosome inhibitor. Thus, LRRK2 mutations are rare in Taiwanese with familial PD. Further study is needed to identify causative genes or unique biomarkers for familial PD.

Authors+Show Affiliations

Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7, Chung-Shan South Road, Taipei 100, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18523869

Citation

Lin, Chin-Hsien, et al. "LRRK2 Mutation in Familial Parkinson's Disease in a Taiwanese Population: Clinical, PET, and Functional Studies." Journal of Biomedical Science, vol. 15, no. 5, 2008, pp. 661-7.
Lin CH, Tzen KY, Yu CY, et al. LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. J Biomed Sci. 2008;15(5):661-7.
Lin, C. H., Tzen, K. Y., Yu, C. Y., Tai, C. H., Farrer, M. J., & Wu, R. M. (2008). LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. Journal of Biomedical Science, 15(5), 661-7. https://doi.org/10.1007/s11373-008-9260-0
Lin CH, et al. LRRK2 Mutation in Familial Parkinson's Disease in a Taiwanese Population: Clinical, PET, and Functional Studies. J Biomed Sci. 2008;15(5):661-7. PubMed PMID: 18523869.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. AU - Lin,Chin-Hsien, AU - Tzen,Kai-Yuan, AU - Yu,Chin-Yi, AU - Tai,Chun-Hwei, AU - Farrer,Matthew J, AU - Wu,Ruey-Meei, Y1 - 2008/06/04/ PY - 2008/02/20/received PY - 2008/05/23/accepted PY - 2008/6/5/pubmed PY - 2008/12/17/medline PY - 2008/6/5/entrez SP - 661 EP - 7 JF - Journal of biomedical science JO - J Biomed Sci VL - 15 IS - 5 N2 - Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal-dominant familial Parkinson's disease (PD). We performed clinical, imaging, and molecular functional studies in one family with the R1441H and six families with the G2385R variants of Lrrk2. To determine the contribution of these variants to familial PD in Taiwanese, we screened 32 Taiwanese or ethnic Chinese patients with familial PD for four pathogenic substitutions (R1441H, I2012T, I2020T, and G2019S) and one susceptibility polymorphism (G2385R). The frequencies of R1441H and G2385R were 3.7% and 22.2%, respectively. G2019S, I2012T, and I2020T were not detected. The clinical phenotypes and [(18)F]-dopa PET findings for subjects with R1441H or G2385R resembled those of patients with idiopathic PD; however, their lymphoblastoid cell lines showed increased apoptosis following exposure to a proteosome inhibitor. Thus, LRRK2 mutations are rare in Taiwanese with familial PD. Further study is needed to identify causative genes or unique biomarkers for familial PD. SN - 1423-0127 UR - https://www.unboundmedicine.com/medline/citation/18523869/LRRK2_mutation_in_familial_Parkinson's_disease_in_a_Taiwanese_population:_clinical_PET_and_functional_studies_ L2 - https://dx.doi.org/10.1007/s11373-008-9260-0 DB - PRIME DP - Unbound Medicine ER -