LRRK2 R1441G in Spanish patients with Parkinson's disease.
Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2 4321C>G (R1441G) mutation was originally identified in Spanish families originating from the Basque region. Within this ethnicity, Lrrk2 R1441G substitutions have been suggested as a frequent cause of disease. Herein we have assessed another referral-based series of 225 patients with PD from the neighboring region of Asturias, Northern Spain. The LRRK2 4321C>G mutation was found in 5 (2.7%) of sporadic, late-onset patients and was not present in control subjects. Although patients with a Lrrk2 R1441G substitution are apparently unrelated, they share a chromosome 12q12 haplotype not found in controls and indicative of a common founder.
Mata
Ignacio F
IF
Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224,USA.
Taylor
Julie P
JP
Kachergus
Jennifer
J
Hulihan
Mary
M
Huerta
Cecilia
C
Lahoz
Carlos
C
Blazquez
Marta
M
Guisasola
Luis M
LM
Salvador
Carlos
C
Ribacoba
Renee
R
Martinez
Carmen
C
Farrer
Matthew
M
Alvarez
Victoria
V
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases