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 journalArticlepeer-review

3 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.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.

Original languageEnglish
Pages (from-to)117-121
Number of pages5
JournalColombia medica (Cali, Colombia)
Volume46
Issue number3
DOIs
StatePublished - Sep 30 2015

Keywords

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

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