title: The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. sky569@libero.it
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Anna
authors.initials: A
authors.lastname: De Rosa
authors.forename: Anna
authors.initials: A
authors.lastname: Guacci
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Simons
authors.forename: Guido J
authors.initials: GJ
authors.lastname: Breedveld
authors.forename: Silvio
authors.initials: S
authors.lastname: Peluso
authors.forename: Giampiero
authors.initials: G
authors.lastname: Volpe
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000368:Aged; D000596:Amino Acids / Q000235:genetics*; D004185:Disability Evaluation; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D000596:Amino Acids; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases