Relevant conflicts of interest/financial disclosures: Nothing to report.
Article first published online: 9 DEC 2011
Copyright © 2011 Movement Disorder Society
Volume 27, Issue 2, pages 320–324, February 2012
How to Cite
Kim, J. S., Cho, J. W., Shin, H., Lee, W. Y., Ki, C.-S., Cho, A. R. and Kim, H.-T. (2012), A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity. Mov. Disord., 27: 320–324. doi: 10.1002/mds.24033
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 9 FEB 2012
- Article first published online: 9 DEC 2011
- Manuscript Accepted: 20 OCT 2011
- Manuscript Revised: 9 OCT 2011
- Manuscript Received: 2 AUG 2011
- Parkinson's disease;
- leucine-rich repeat kinase 2 (LRRK2);
- p.Tyr1699Cys mutation;
- clinical heterogeneity
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.
We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family.
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.
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. © 2011 Movement Disorder Society