Andrés Felipe Duque1, Juan Carlos Lopez2, Bruno Benitez1, Helena Hernandez1, Juan José Yunis2, William Fernandez3, Humberto Arboleda4, Gonzalo Arboleda2. 1. Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia. 2. Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Patología. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia. 3. 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. 4. Grupo de Neurociencias. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia ; Departamento de Pediatría. Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
Abstract
INTRODUCTION: 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%). CONCLUSION: 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.
INTRODUCTION: 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%). CONCLUSION: 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: M C de Rijk; C Tzourio; M M Breteler; J F Dartigues; L Amaducci; S Lopez-Pousa; J M Manubens-Bertran; A Alpérovitch; W A Rocca Journal: J Neurol Neurosurg Psychiatry Date: 1997-01 Impact factor: 10.154
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Authors: Karen Nuytemans; Farid Rajabli; Parker L Bussies; Katrina Celis; William K Scott; Carlos Singer; Corneliu C Luca; Angel Vinuela; Margaret A Pericak-Vance; Jeff M Vance Journal: Front Neurol Date: 2020-11-12 Impact factor: 4.003
Authors: Bruno A Benitez; Albert A Davis; Sheng Chih Jin; Laura Ibanez; Sara Ortega-Cubero; Pau Pastor; Jiyoon Choi; Breanna Cooper; Joel S Perlmutter; Carlos Cruchaga Journal: Mol Neurodegener Date: 2016-04-19 Impact factor: 14.195