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


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.


CONCLUSIONS
LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.
Morán
José M
JM
Departamento de Enfermería, Universidad de Extremadura, Facultad de Medicina, Badajoz, España. jmmorang@unex.es
Castellanos-Pinedo
Fernando
F
Casado-Naranjo
Ignacio
I
Durán-Herrera
Carmen
C
Ramírez-Moreno
José M
JM
Gómez
Montserrat
M
Zurdo-Hernández
José Martín
JM
Fuentes
Elisabet
E
Ortiz-Ortiz
Miguel A
MA
Moreno
Antonio D
AD
González-Polo
Rosa A
RA
Niso-Santano
Mireia
M
Bravo-Sanpedro
José M
JM
Pérez-Tur
Jordi
J
Ruiz-Mesa
Luz M
LM
Fuentes
José M
JM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003062:Codon; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain
D003062:Codon; D005819:Genetic Markers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases