title: A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
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.
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Ji Sun
authors.initials: JS
authors.lastname: Kim
authors.forename: Jin Whan
authors.initials: JW
authors.lastname: Cho
authors.forename: Hyeeun
authors.initials: H
authors.lastname: Shin
authors.forename: Won Yong
authors.initials: WY
authors.lastname: Lee
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Ah Ra
authors.initials: AR
authors.lastname: Cho
authors.forename: Hee-Tae
authors.initials: HT
authors.lastname: Kim
mesh_terms: D017668:Age of Onset; D000368:Aged; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D056910:Republic of Korea; D014443:Tyrosine / Q000235:genetics*
chemical_list: D014443:Tyrosine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D003545:Cysteine