LRRK2 R1441G in Spanish patients with Parkinson's disease.
Mata IF,
Taylor JP,
Kachergus J,
Hulihan M,
Huerta C,
Lahoz C,
Blazquez M,
Guisasola LM,
Salvador C,
Ribacoba R,
Martinez C,
Farrer M,
Alvarez V.
Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224,USA.
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.
PMID: 15925109 [PubMed - indexed for MEDLINE]