title: Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.
abstract: BACKGROUND
  Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations.
  
  
  OBJECTIVE
  to analyzed the frequency of the LRRK2 p.G2019S mutation (c.6055 G>A transition) in a sample of Colombian patients.
  
  
  METHODS
  In the present study we have analyzed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls.
  
  
  RESULTS
  Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson´s signs, and one completely asymptomatic control (1/162, 0.6%).
  
  
  CONCLUSIONS
  The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Andrés Felipe
authors.initials: AF
authors.lastname: Duque
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Patología. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Lopez
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Bruno
authors.initials: B
authors.lastname: Benitez
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Helena
authors.initials: H
authors.lastname: Hernandez
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Patología. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Yunis
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Medicina Interna. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: William
authors.initials: W
authors.lastname: Fernandez
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Pediatría. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Humberto
authors.initials: H
authors.lastname: Arboleda
authors.affiliation: Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Patología. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Arboleda
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003105:Colombia; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases
keywords: Colombia; Dardarin; LRRK2; Parkinson´s disease; p.G2019S mutation