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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Author(s) -
Criscuolo Chiara,
De Rosa Anna,
Guacci Anna,
Simons Erik J.,
Breedveld Guido J.,
Peluso Silvio,
Volpe Giampiero,
Filla Alessandro,
Oostra Ben A.,
Bonifati Vincenzo,
De Michele Giuseppe
Publication year - 2011
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23735
Subject(s) - lrrk2 , parkinson's disease , mutation , haplotype , genetics , disease , biology , medicine , gene , allele
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. © 2011 Movement Disorder Society