{"id":"https://openalex.org/W2883177041","doi":"https://doi.org/10.1136/jnnp-2018-318473","title":"Lack of central and peripheral nervous system synuclein pathology in R1441GLRRK2-associated Parkinson\u2019s disease","display_name":"Lack of central and peripheral nervous system synuclein pathology in R1441GLRRK2-associated Parkinson\u2019s disease","publication_year":2018,"publication_date":"2018-07-27","ids":{"openalex":"https://openalex.org/W2883177041","doi":"https://doi.org/10.1136/jnnp-2018-318473","mag":"2883177041","pmid":"https://pubmed.ncbi.nlm.nih.gov/30054313"},"language":"en","primary_location":{"id":"doi:10.1136/jnnp-2018-318473","doi":"https://doi.org/10.1136/jnnp-2018-318473","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jnnp-2018-318473","pdf_url":null,"source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology, Neurosurgery & Psychiatry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080998360","display_name":"Dolores Vilas","orcid":"https://orcid.org/0000-0003-3084-053X","observed_orcids":["https://orcid.org/0000-0003-3084-053X"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210153460","display_name":"Hospital Universitari Germans Trias i Pujol","ror":"https://ror.org/04wxdxa47","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210153292","https://openalex.org/I4210153460"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Dolores Vilas","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain","Movement Disorders Unit, Neurology Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain","Hospital Cl\u00ednic de Barcelona","Hospital Universitari Germans Trias i Pujol","Movement Disorders Unit, Neurology Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain","institution_ids":["https://openalex.org/I4210153460"]},{"raw_affiliation_string":"Hospital Cl\u00ednic de Barcelona","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Hospital Universitari Germans Trias i Pujol","institution_ids":["https://openalex.org/I4210153460"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047812313","display_name":"Ellen Gelp\u00ed","orcid":"https://orcid.org/0000-0003-2948-4187","observed_orcids":["https://orcid.org/0000-0003-2948-4187"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]},{"id":"https://openalex.org/I76134821","display_name":"Medical University of Vienna","ror":"https://ror.org/05n3x4p02","country_code":"AT","type":"education","lineage":["https://openalex.org/I76134821"]}],"countries":["AT","ES"],"is_corresponding":false,"raw_author_name":"Ellen Gelpi","raw_affiliation_strings":["Institute of Neurology, Medical University of Vienna, Vienna, Austria","Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","Institute of Neurology, Medical University of Vienna","Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Neurology, Medical University of Vienna, Vienna, Austria","institution_ids":["https://openalex.org/I76134821"]},{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097","https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Institute of Neurology, Medical University of Vienna","institution_ids":["https://openalex.org/I76134821"]},{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS","institution_ids":["https://openalex.org/I4210160192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080451400","display_name":"Ib\u00e1n Aldecoa","orcid":"https://orcid.org/0000-0001-5774-7453","observed_orcids":["https://orcid.org/0000-0001-5774-7453"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Iban Aldecoa","raw_affiliation_strings":["Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","Pathology Department, Biomedical Diagnostic Center, Hospital Clinic de Barcelona, Barcelona, Spain","Hospital Clinic de Barcelona","Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS","Pathology Department, Biomedical Diagnostic Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097","https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Pathology Department, Biomedical Diagnostic Center, Hospital Clinic de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Hospital Clinic de Barcelona","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS","institution_ids":["https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Pathology Department, Biomedical Diagnostic Center","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076043002","display_name":"Oriol Grau\u2010Rivera","orcid":"https://orcid.org/0000-0002-4730-5341","observed_orcids":["https://orcid.org/0000-0002-4730-5341"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Oriol Grau","raw_affiliation_strings":["Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Barcelona, Spain","Cognitive Disorders Unit, Neurology Service","Hospital Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Cognitive Disorders Unit, Neurology Service","institution_ids":[]},{"raw_affiliation_string":"Hospital Clinic","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016776727","display_name":"Roberta Diehl Rodriguez","orcid":"https://orcid.org/0000-0002-6544-7861","observed_orcids":["https://orcid.org/0000-0002-6544-7861"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]}],"countries":["BR","ES"],"is_corresponding":false,"raw_author_name":"Roberta Rodriguez-Diehl","raw_affiliation_strings":["Behavioral and Cognitive Neurology Unit, Department of Neurology and LIM 22, University of S\u00e3o Paulo, S\u00e3o Paulo, Brazil","Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","Behavioral and Cognitive Neurology Unit","Department of Neurology and LIM 22, University of S\u00e3o Paulo","Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Behavioral and Cognitive Neurology Unit, Department of Neurology and LIM 22, University of S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097","https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Behavioral and Cognitive Neurology Unit","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology and LIM 22, University of S\u00e3o Paulo","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS","institution_ids":["https://openalex.org/I4210160192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082473958","display_name":"Serge Jaum\u00e0","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802050225","display_name":"Bellvitge University Hospital","ror":"https://ror.org/00epner96","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Serge Jaum\u00e0","raw_affiliation_strings":["Neurology Service, Hospital Universitari de Bellvitge, Barcelona, Spain","Hospital Universitari de Bellvitge","Neurology Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Service, Hospital Universitari de Bellvitge, Barcelona, Spain","institution_ids":["https://openalex.org/I2802050225"]},{"raw_affiliation_string":"Hospital Universitari de Bellvitge","institution_ids":["https://openalex.org/I2802050225"]},{"raw_affiliation_string":"Neurology Service","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061421108","display_name":"Mar\u0131\u0301a Jos\u00e9 Mart\u0131\u0301","orcid":"https://orcid.org/0000-0002-3874-967X","observed_orcids":["https://orcid.org/0000-0002-3874-967X"]},"institutions":[{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Jos\u00e9 Mart\u00ed","raw_affiliation_strings":["Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain","Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain","Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain","Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED)","Hospital Cl\u00ednic de Barcelona","Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)","Movement Disorders Unit, Neurology Service","University of Barcelona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain","institution_ids":["https://openalex.org/I4210086696"]},{"raw_affiliation_string":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4210160192","https://openalex.org/I71999127"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED)","institution_ids":["https://openalex.org/I4210086696"]},{"raw_affiliation_string":"Hospital Cl\u00ednic de Barcelona","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)","institution_ids":["https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service","institution_ids":[]},{"raw_affiliation_string":"University of Barcelona","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113786217","display_name":"Eduard S. Tolosa","orcid":"https://orcid.org/0000-0002-3781-0854","observed_orcids":["https://orcid.org/0000-0002-3781-0854"]},"institutions":[{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Eduard Tolosa","raw_affiliation_strings":["Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain","Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain","Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain ETOLOSA@clinic.cat","Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED)","Hospital Cl\u00ednic de Barcelona","Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)","Movement Disorders Unit, Neurology Service","University of Barcelona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain","institution_ids":["https://openalex.org/I4210086696"]},{"raw_affiliation_string":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4210160192","https://openalex.org/I71999127"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Hospital Cl\u00ednic de Barcelona, Barcelona, Spain ETOLOSA@clinic.cat","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED)","institution_ids":["https://openalex.org/I4210086696"]},{"raw_affiliation_string":"Hospital Cl\u00ednic de Barcelona","institution_ids":["https://openalex.org/I4210115097"]},{"raw_affiliation_string":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)","institution_ids":["https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service","institution_ids":[]},{"raw_affiliation_string":"University of Barcelona","institution_ids":["https://openalex.org/I71999127"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5113786217"],"corresponding_institution_ids":["https://openalex.org/I4210086696","https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I71999127"],"apc_list":null,"apc_paid":null,"fwci":1.0377,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.75237205,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"90","issue":"7","first_page":"832","last_page":"833"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13991","display_name":"Nuclear Receptors and Signaling","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10919","display_name":"Neurological disorders and treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.8090000152587891},{"id":"https://openalex.org/keywords/lrrk2-mutations","display_name":"LRRK2 mutations","score":0.8119999766349792},{"id":"https://openalex.org/keywords/alpha-synuclein-pathology","display_name":"alpha-synuclein pathology","score":0.8489999771118164},{"id":"https://openalex.org/keywords/lewy-bodies","display_name":"Lewy bodies","score":0.8330000042915344},{"id":"https://openalex.org/keywords/peripheral-autonomic-nervous-system","display_name":"peripheral autonomic nervous system","score":0.8560000061988831},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.7730000019073486},{"id":"https://openalex.org/keywords/tau-pathology","display_name":"tau pathology","score":0.7540000081062317},{"id":"https://openalex.org/keywords/familial-parkinson-s-disease","display_name":"familial Parkinson's disease","score":0.6690000295639038},{"id":"https://openalex.org/keywords/autopsy-findings","display_name":"autopsy findings","score":0.5440000295639038}],"concepts":[{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.7491694688796997},{"id":"https://openalex.org/C2780427247","wikidata":"https://www.wikidata.org/wiki/Q409961","display_name":"LRRK2","level":4,"score":0.7193797826766968},{"id":"https://openalex.org/C46762472","wikidata":"https://www.wikidata.org/wiki/Q178648","display_name":"Peripheral","level":2,"score":0.6354793906211853},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6019859313964844},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5940888524055481},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.5135267376899719},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4975307285785675},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.49151334166526794},{"id":"https://openalex.org/C545314008","wikidata":"https://www.wikidata.org/wiki/Q169953","display_name":"Peripheral nervous system","level":3,"score":0.44381439685821533},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2622847557067871},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.12054550647735596}],"mesh":[{"descriptor_ui":"D000071158","descriptor_name":"Leucine-Rich Repeat Serine-Threonine Protein Kinase-2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000071158","descriptor_name":"Leucine-Rich Repeat Serine-Threonine Protein Kinase-2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000071158","descriptor_name":"Leucine-Rich Repeat Serine-Threonine Protein Kinase-2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017933","descriptor_name":"Peripheral Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017933","descriptor_name":"Peripheral Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017933","descriptor_name":"Peripheral Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D051844","descriptor_name":"alpha-Synuclein","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051844","descriptor_name":"alpha-Synuclein","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051844","descriptor_name":"alpha-Synuclein","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1136/jnnp-2018-318473","doi":"https://doi.org/10.1136/jnnp-2018-318473","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jnnp-2018-318473","pdf_url":null,"source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology, Neurosurgery & Psychiatry","raw_type":"journal-article"},{"id":"pmid:30054313","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30054313","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of neurology, neurosurgery, and psychiatry","raw_type":"Case Reports"},{"id":"pmh:oai:open-archive.highwire.org:jnnp:90/7/832","doi":null,"is_oa":false,"landing_page_url":"http://jnnp.bmj.com/cgi/content/short/90/7/832","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.8299999833106995,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W1987572257","https://openalex.org/W1992632425","https://openalex.org/W2023506905","https://openalex.org/W2033596507","https://openalex.org/W2610279067"],"related_works":["https://openalex.org/W2559766006","https://openalex.org/W4292600682","https://openalex.org/W2083583046","https://openalex.org/W2029768920","https://openalex.org/W2127528515","https://openalex.org/W2023312655","https://openalex.org/W4311404575","https://openalex.org/W164107363","https://openalex.org/W2403497954","https://openalex.org/W2297112933"],"abstract_inverted_index":{"In":[0,57],"idiopathic":[1],"Parkinson\u2019s":[2,37],"disease":[3,38,233],"(iPD)":[4],"abundant":[5],"alpha-synuclein":[6],"(\u03b1Syn)":[7],"aggregates":[8,23],"are":[9,114],"present":[10],"in":[11,24,40,71,100,133,142,154,166,224],"the":[12,25,72,120,123,139,143,155,167,212,229,232,237,241],"central":[13,73,128],"and":[14,42,66,83,112,129,152,173,183,193],"peripheral":[15,26,130],"autonomic":[16],"nervous":[17,74],"system":[18,75],"(PANS).":[19],"Detection":[20],"of":[21,36,47,102,117,122,138,214,226,239],"\u03b1Syn":[22,62],"tissue":[27],"has":[28],"been":[29],"suggested":[30],"as":[31],"a":[32,134,202,219],"potential":[33],"diagnostic":[34],"marker":[35],"(PD)":[39],"early":[41],"premotor":[43],"stages.1":[44],"\n\nThe":[45],"neuropathology":[46],"LRRK2":[48,52,107,144,222],"-associated":[49],"PD":[50,103,135,210],"(":[51],"-PD)":[53],"is":[54,109],"unexpectedly":[55],"heterogeneous.2":[56],"most":[58],"G2019S":[59],"mutation":[60,141,223],"carriers":[61],"loaded":[63],"Lewy":[64],"bodies":[65],"neurites":[67],"can":[68,92],"be":[69,94],"found":[70],"(CNS).":[76],"Some":[77],"cases":[78,101],"though":[79],"lack":[80],"the\u00a0Lewy-type":[81],"pathology":[82,91],"may":[84],"show":[85],"non-specific":[86],"nigral":[87],"degeneration.":[88],"Prominent":[89],"tau":[90],"also":[93],"found.":[95],"Information":[96],"on":[97],"neuropathological":[98,131],"findings":[99,132],"associated":[104],"with":[105,149,201,209],"other":[106],"mutations":[108],"very":[110],"limited,":[111],"we":[113,125],"not":[115],"aware":[116],"reports":[118],"describing":[119],"involvement":[121],"PANS.\n\nHere":[124],"describe":[126],"postmortem":[127],"patient":[136],"carrier":[137],"R1441G":[140,221],"gene.\n\nA":[145],"67-year-old":[146],"man":[147],"presented":[148],"gait":[150],"instability":[151],"clumsiness":[153],"right":[156,168],"leg.":[157],"At":[158,236],"neurological":[159],"examination,":[160],"he":[161],"had":[162,186],"hypomimia,":[163],"action":[164],"tremor":[165],"hand,":[169],"mild":[170],"asymmetric":[171],"bradykinesia":[172],"rigidity.":[174],"He":[175,185],"suffered":[176],"from":[177],"alcohol-related":[178],"liver":[179],"disease,":[180],"diabetes":[181],"mellitus":[182],"polyneuropathy.":[184],"no":[187],"hyposmia,":[188],"depression,":[189],"constipation,":[190],"orthostatic":[191],"hypotension,":[192],"urinary":[194],"or":[195],"erectile":[196],"dysfunction.":[197],"Levodopa":[198],"was":[199,207],"started":[200],"good":[203],"response.":[204],"His":[205],"daughter":[206],"diagnosed":[208],"at":[211],"age":[213,238],"32.":[215],"Genetic":[216],"analysis":[217],"revealed":[218],"heterozygous":[220],"both":[225],"them.":[227],"Over":[228],"following":[230],"years":[231],"progressed":[234],"slightly.":[235],"69":[240],"\u2026":[242]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2025-10-10T00:00:00"}