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http://purl.uniprot.org/citations/21538529http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21538529http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
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http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Oostra B.A."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Criscuolo C."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"De Michele G."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Filla A."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Bonifati V."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Breedveld G.J."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Simons E.J."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"De Rosa A."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Volpe G."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Peluso S."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/author"Guacci A."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/name"Mov Disord"xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/pages"1733-1736"xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/title"The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy."xsd:string
http://purl.uniprot.org/citations/21538529http://purl.uniprot.org/core/volume"26"xsd:string
http://purl.uniprot.org/citations/21538529http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21538529
http://purl.uniprot.org/citations/21538529http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/21538529
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http://purl.uniprot.org/uniprot/#_Q17RV3-mappedCitation-21538529http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21538529
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