Article
A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2012
Kim Ji Sun, Cho Jin Whan, Shin Hyeeun, Lee Won Yong, Ki Chang-Seok, Cho Ah Ra, Kim Hee-Tae
Abstract excerpt
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...
Topics
- Age of Onset
- Aged
- Cysteine
- DNA Mutational Analysis
- Family Health
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2