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  • Title: The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
    Author: Criscuolo C, De Rosa A, Guacci A, Simons EJ, Breedveld GJ, Peluso S, Volpe G, Filla A, Oostra BA, Bonifati V, De Michele G.
    Journal: Mov Disord; 2011 Aug 01; 26(9):1733-6. PubMed ID: 21538529.
    Abstract:
    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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