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

Colombia Médica

Andres Felipe Duque²  Gonzalo Arboleda⁵  William Fernandez³  Bruno Benitez⁴  Helena Hernandez⁴  Juan Carlos Lopez⁶  Juan Jose Yunis⁶  Humberto Arboleda¹ 

[1] Departamento de PediatriaFaculta de MedicinaUniversidad Nacional de Colombia;Maestria en NeurocienciasUniversidad Nacionald e Colombia;Departamento de Medicina InternaFaculta de MedicinaUniversidad Nacional de Colombia;Faculta de MedicinaUniversidad Nacional de Colombia;Departamento de PatologiaFaculta de MedicinaUniversidad Nacional de Colombia;Departamento de PatologiaFaculta de MedicinaUniversidad Nacional de Colombia

关键词: Parkinson´s disease;    LRRK2;    G2019S;    Colombia;   

DOI  :  

学科分类：医学（综合）

来源: Universidad del Valle * Facultad de Salud / Universidad del Valle, Faculty of Health

【 摘 要 】

Normal 0 21 false false false ES-CO X-NONE X-NONEIntroduction: Mutations in the leucine-rich repeat kinase 2 gene ( LRRK2or 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 theLRRK2p.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 theLRRK2p.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.

【 授权许可】

Unknown