A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity
- Authors
- Kim, Ji Sun; Cho, Jin Whan; Shin, Hyeeun; Lee, Won Yong; Ki, Chang-Seok; Cho, Ah Ra; Kim, Hee-Tae
- Issue Date
- Feb-2012
- Publisher
- WILEY
- Keywords
- Parkinson' s disease; leucine-rich repeat kinase 2 (LRRK2); p; Tyr1699Cys mutation; clinical heterogeneity
- Citation
- MOVEMENT DISORDERS, v.27, no.2, pp.320 - 324
- Indexed
- SCIE
SCOPUS
- Journal Title
- MOVEMENT DISORDERS
- Volume
- 27
- Number
- 2
- Start Page
- 320
- End Page
- 324
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/166362
- DOI
- 10.1002/mds.24033
- ISSN
- 0885-3185
- Abstract
- Background: Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies. Methods: We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family. Results: Although the clinical findings of these patients were indistinguishable from those of patients with sporadic PD, the patients with the p.Tyr1699Cys mutation demonstrated clinical heterogeneity including differences in age at onset, rate of disease progression, clinical phenotype, and prognosis. Conclusions: This is the first report describing an Asian PD family with the p.Tyr1699Cys mutation in LRRK2. The affected members of this family showed clinical heterogeneity.
- Files in This Item
-
Go to Link
- Appears in
Collections - 서울 의과대학 > 서울 신경과학교실 > 1. Journal Articles
![qrcode](https://api.qrserver.com/v1/create-qr-code/?size=55x55&data=https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/166362)
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.