A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity

초록

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.

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