Background:: Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries. Methods:: One hundred ninety-two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion. Results:: Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect. Conclusions:: G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region-specific mutation prevalence data should be taken into account for a sensitive and cost-effective molecular diagnosis and counseling of patients with Parkinson's disease.

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Keywords G2019S, Leucine-rich repeat kinase 2, PARK8, R1441C
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Journal Movement Disorders
Criscuolo, C, de Rosa, A, Guacci, A, Simons, E.J, Breedveld, G.J, Peluso, S, … de Michele, G. (2011). The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy. Movement Disorders, 26(9), 1732–1736. doi:10.1002/mds.23735