{"doi":"10.1002/mds.23278","title":"Penetrance in Parkinson's disease related to the <i>LRRK2</i> R1441G mutation in the Basque country (Spain)","abstract":"<jats:title>Abstract</jats:title><jats:p>The <jats:italic>LRRK2 R1441G</jats:italic> mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine <jats:italic>LRRK2 R1441G</jats:italic> penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD‐affected relatives, were studied. Genetic testing for the <jats:italic>R1441G</jats:italic> mutation in the <jats:italic>LRRK2</jats:italic> gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of <jats:italic>R1441G</jats:italic> mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance. © 2010 Movement Disorder Society.</jats:p>","journal":"Movement Disorders","year":2010,"id":609779,"datarank":0.6284482113039639,"base_score":4.189654742026425,"endowment":4.189654742026425,"self_citation_contribution":0.6284482113039639,"citation_network_contribution":0.0,"self_endowment_contribution":0.6284482113039639,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":65,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":652170,"name":"Ana Gorostidi","orcid":"0000-0002-5494-4512","position":1,"is_corresponding":false},{"id":1567466,"name":"Berta Ibañez","orcid":null,"position":2,"is_corresponding":false},{"id":1567467,"name":"Ainhoa Alzualde","orcid":null,"position":3,"is_corresponding":false},{"id":596142,"name":"David Otaegui","orcid":"0000-0002-6625-5976","position":4,"is_corresponding":false},{"id":1567468,"name":"Fermin Moreno","orcid":null,"position":5,"is_corresponding":false},{"id":847083,"name":"Adolfo López de Munain","orcid":null,"position":6,"is_corresponding":false},{"id":1567469,"name":"Alberto Bergareche","orcid":null,"position":7,"is_corresponding":false},{"id":985706,"name":"Juan Carlos Gómez‐Esteban","orcid":"0000-0002-4697-3890","position":8,"is_corresponding":false},{"id":1567470,"name":"José F. Martí Massó","orcid":null,"position":9,"is_corresponding":false},{"id":1326679,"name":"Javier Ruiz‐Martínez","orcid":"0000-0001-7326-6270","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).","abstract":"The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"20721916","pmcid":null,"openalex_id":null,"authors":[],"funders":[],"total_grants":0,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":null,"oa_locations":[],"fields_of_study":[],"mesh_terms":["Humans","Parkinson Disease","Arginine","Glycine","Incidence","Family","Age Factors","Penetrance","Polymorphism, Single Nucleotide","Aged","Aged, 80 and over","Middle Aged","Spain","Female","Male","Leucine-Rich Repeat Serine-Threonine Protein Kinase-2","Protein Serine-Threonine Kinases"],"keywords":[],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-31T15:11:12.509491Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}