Análisis de la mutación p.G2019S del gen LRRK2 en pacientes colombianos con enfermedad de parkinson

Translated title of the contribution: Analysis of the LRRK2 p.G2019s mutation in colombian parkinson’s disease patients

Andrés Felipe Duque, Juan Carlos Lopez, Bruno Benitez, Helena Hernandez, Juan José Yunis, William Fernandez, Humberto Arboleda, Gonzalo Arboleda

Research output: Contribution to journalArticle

7 Scopus citations

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.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.

Translated title of the contributionAnalysis of the LRRK2 p.G2019s mutation in colombian parkinson’s disease patients
Original languageSpanish
Pages (from-to)122-126
Number of pages5
JournalColombia Medica
Volume46
Issue number3
StatePublished - Jul 2015
Externally publishedYes

Keywords

  • Colombia
  • Dardarin
  • LRRK2
  • Parkinson´s disease
  • p.G2019S mutation

Fingerprint Dive into the research topics of 'Analysis of the LRRK2 p.G2019s mutation in colombian parkinson’s disease patients'. Together they form a unique fingerprint.

  • Cite this

    Duque, A. F., Lopez, J. C., Benitez, B., Hernandez, H., Yunis, J. J., Fernandez, W., Arboleda, H., & Arboleda, G. (2015). Análisis de la mutación p.G2019S del gen LRRK2 en pacientes colombianos con enfermedad de parkinson. Colombia Medica, 46(3), 122-126.