Genetic screening for the LRRK2, G2019S and R1441 codon mutations in Parkinson's disease patients from Extremadura, Spain

• Published in: Revista de neurologiá Vol. 50; no. 10; pp. 591 - 594
• Main Authors: Morán, José M, Castellanos-Pinedo, Fernando, Casado-Naranjo, Ignacio, Durán-Herrera, Carmen, Ramírez-Moreno, José M, Gómez, Montserrat, Zurdo-Hernández, José Martín, Fuentes, Elisabet, Ortiz-Ortiz, Miguel A, Moreno, Antonio D, González-Polo, Rosa A, Niso-Santano, Mireia, Bravo-Sanpedro, José M, Pérez-Tur, Jordi, Ruiz-Mesa, Luz M, Fuentes, José M
• Format: Journal Article
• Language: Spanish
• Published: Spain 16-05-2010
• Subjects: Adult; Aged; Aged, 80 and over; Codon; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Male; Middle Aged; Mutation; Parkinson Disease - genetics; Pedigree; Protein-Serine-Threonine Kinases - genetics; Spain
• ISSN: 1576-6578
• DOI: 10.33588/rn.5010.2009580

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.
To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163).
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.
LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.