Resumo

DUQUE, Andrés Felipe et al. Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients. Colomb. Med. [online]. 2015, vol.46, n.3, pp.117-121. ISSN 1657-9534.

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.6055G>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.

Palavras-chave : Parkinson's disease; dardarin; LRRK2; p.G2019S mutation; Colombia.

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