Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients

Andres Felipe Duque, Juan Carlos Lopez, Helena Hernandez, Bruno Benitez, Juan Jose Yunis, William Fernandez, Humberto Arboleda, Gonzalo Arboleda
2015 Colombia Médica  
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 analysed the frequency of the LRRK2 p.G2019S mutation (c.6055G>A transition) in a sample of Colombian patients. Materials and Methods: In the present study we have analysed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or
more » ... 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.
doi:10.25100/cm.v46i3.1553 fatcat:wedjhvxenfeyviop2moufhzucy