[Genetic screening for the LRRK2, G2019S and R1441 codon mutations in Parkinson's disease patients from Extremadura, Spain]. / Prevalencia de las mutaciones G2019S y R1441 de LRRK2 en pacientes con enfermedad de Parkinson en Extremadura, España.
Rev Neurol
; 50(10): 591-4, 2010 May 16.
Article
en Es
| MEDLINE
| ID: mdl-20473834
ABSTRACT
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 ANDMETHODS:
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
/
Codón
/
Proteínas Serina-Treonina Quinasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prevalence_studies
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Risk_factors_studies
/
Screening_studies
Límite:
Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Europa
Idioma:
Es
Revista:
Rev Neurol
Año:
2010
Tipo del documento:
Article