RESUMO
No disponible
Assuntos
Humanos , Epilepsia do Lobo Frontal/diagnóstico , Epilepsias Parciais/diagnóstico , Diagnóstico DiferencialRESUMO
INTRODUCTION: LRRK2 mutations have been described as a common cause of Parkinson's disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. SUBJECTS AND METHODS: To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). RESULTS: Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. CONCLUSION: LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.
Assuntos
Códon , Mutação , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Linhagem , EspanhaRESUMO
Introducción. Las mutaciones en el gen que codifica para la proteína LRRK2 se han asociado frecuentemente con la enfermedad de Parkinson (EP) en pacientes en el norte de España. En este artículo se determina la prevalencia de algunas de las mutaciones más frecuentes en una cohorte de pacientes con EP (n = 96) en Extremadura, región situada en el suroeste de España. Sujetos y métodos. Se pretende determinar la presencia de las mutaciones G2019S y R1441G/C/H de LRRK2 en pacientes con EP y en individuos sanos (n = 196). Resultados. La mutación G2019S se presenta con una baja prevalencia en nuestra muestra, mientras que las mutaciones R1441G/C/H, frecuentes en el norte de España, no se han detectado en la muestra de enfermos ni en los controles. Conclusión. Las mutaciones en LRRK2 no parecen ser una causa frecuente de la EP en Extremadura (AU)
Introduction. LRRK2 mutations have been described as a common cause of Parkinsons disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. Subjects and methods. To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). Results. Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. Conclusion. LRRK2 mutations do not appear to be a common cause of Parkinsons disease in Extremadura, Spain (AU)
