{"doi":"10.3389/fneur.2020.00682","title":"Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort","abstract":"LRRK2, SNCA and VPS35 are unequivocally associated with autosomal dominant Parkinson’s disease (PD). We evaluated the prevalence of LRRK2, SNCA and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1805 index cases (592 with autosomal dominant inheritance and 1213 isolated cases) since 1990. All probands were screened with TaqMan assays for LRRK2 Gly2019Ser. In the absence of this mutation, the coding sequences of the three genes were analyzed by Sanger sequencing and/or next-generation sequencing. The data for the three genes were analyzed according to age at onset, family history, ethnic origin and clinical features. We identified 160 index cases (8.9%) with known pathogenic variants: 138 with pathogenic LRRK2 variants (7.6%), including 136 with the Gly2019Ser mutation, 19 with SNCA point mutations or genomic rearrangements (1.1%), and three with the VPS35 Asp620Asn mutation (0.16%). Mutation frequencies were higher in familial than isolated cases, consistent with autosomal dominant inheritance (12.0% vs. 7.3%; OR 1.7, 95% CI [1.2-2.4], p = 0.003). PD patients with LRRK2 variants were more likely to have higher rates of late-onset PD (> 50 years; OR 1.5, 95% CI [1.0-2.2], p = 0.03), whereas those with SNCA mutations tended to have earlier age at onset disease (≤ 50 years, p = 0.06). The clinical features of LRRK2 carriers and those without any pathogenic variants in known PD-associated genes were similar. The likelihood of detecting disease-causing mutations was higher in cases compatible with autosomal dominant inheritance.","journal":"Frontiers in Neurology","year":2020,"id":67394,"datarank":1.4479537936763442,"base_score":3.8712010109078907,"endowment":3.8712010109078907,"self_citation_contribution":0.5806801516361837,"citation_network_contribution":0.8672736420401606,"self_endowment_contribution":0.5806801516361837,"citer_contribution":0.8672736420401606,"corpus_percentile":85.66566101957144,"corpus_rank":1854,"citation_count":47,"citer_count":43,"citers_with_citation_signal":38,"citers_with_endowment":38,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6822,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":4.1667,"fair_percentile":4.891470498318557,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":295711,"name":"Marion Houot","orcid":"0000-0002-3684-1763","position":1,"is_corresponding":false},{"id":295714,"name":"Graziella Mangone","orcid":"0000-0002-2847-3067","position":2,"is_corresponding":false},{"id":295713,"name":"Christelle Tesson","orcid":"0000-0001-7589-3710","position":3,"is_corresponding":false},{"id":356851,"name":"Hélène Bertrand","orcid":"0000-0002-3841-022X","position":4,"is_corresponding":false},{"id":356852,"name":"Sylvie Forlani","orcid":"0009-0006-1899-0171","position":5,"is_corresponding":false},{"id":17555,"name":"Mathieu Anheim","orcid":"0000-0001-8121-0605","position":6,"is_corresponding":false},{"id":357706,"name":"Christine Brefel‐Courbon","orcid":null,"position":7,"is_corresponding":false},{"id":296945,"name":"Emmanuel Broussolle","orcid":null,"position":8,"is_corresponding":false},{"id":356853,"name":"Stéphane Thobois","orcid":"0000-0002-9639-6702","position":9,"is_corresponding":false},{"id":17558,"name":"Philippe Damier","orcid":"0000-0003-3869-0564","position":10,"is_corresponding":false},{"id":357707,"name":"Franck Durif","orcid":null,"position":11,"is_corresponding":false},{"id":295717,"name":"Emmanuel Roze","orcid":"0000-0001-9727-3459","position":12,"is_corresponding":false},{"id":17563,"name":"François Tison","orcid":null,"position":13,"is_corresponding":false},{"id":356854,"name":"David Grabli","orcid":"0000-0001-6798-4567","position":14,"is_corresponding":false},{"id":356855,"name":"Fabienne Ory‐Magne","orcid":"0000-0001-6179-4500","position":15,"is_corresponding":false},{"id":356856,"name":"Bertrand Degos","orcid":"0000-0001-5644-1292","position":16,"is_corresponding":false},{"id":17565,"name":"François Viallet","orcid":null,"position":17,"is_corresponding":false},{"id":357708,"name":"Florence Cormier‐Dequaire","orcid":null,"position":18,"is_corresponding":false},{"id":357709,"name":"Anne-Marie Ouvrard-Hernandez","orcid":null,"position":19,"is_corresponding":false},{"id":17566,"name":"Marie Vidailhet","orcid":"0000-0002-2409-9143","position":20,"is_corresponding":false},{"id":17560,"name":"Ebba Lohmann","orcid":"0000-0001-8695-7919","position":21,"is_corresponding":false},{"id":6986,"name":"Andrew Singleton","orcid":"0000-0001-5606-700X","position":22,"is_corresponding":false},{"id":17557,"name":"Jean‐Christophe Corvol","orcid":"0000-0001-7325-0199","position":23,"is_corresponding":false},{"id":17405,"name":"Alexis Brice","orcid":"0000-0002-0941-3990","position":24,"is_corresponding":false},{"id":357710,"name":"for the French Parkinson disease Genetics Study Group(PDG)","orcid":null,"position":25,"is_corresponding":false},{"id":17420,"name":"Suzanne Lesage","orcid":"0000-0003-4158-2601","position":0,"is_corresponding":true}],"reference_count":36,"raw_metadata":null,"created_at":"2026-07-18T21:15:12.020735Z","pmid":"32849182","pmcid":"PMC7399219","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":11.1111,"fair_a":6.25,"fair_i":0.0,"fair_r":25.0,"fair_zscore":-1.1986,"fair_rationale":{"fair_score":4.17,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":11.11,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"No persistent identifier string (DOI, Handle, ARK, URN, or repository accession) is given for the data.","anchors":["RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit","RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier'","FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'"],"scored":true,"signal":null},{"key":"f_repository_named","label":"Named repository","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"No repository is named; the holder is the authors themselves.","anchors":["RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed (","NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived","NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 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[downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (3/5 passes agreed)]","anchors":["RDA-F2-01M — 'Rich metadata is provided to allow discovery' (priority Essential)","FsF-F2-01M — F-UJI: 'Metadata includes descriptive core elements to support data findability'","FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'"],"scored":false,"signal":null},{"key":"f_dataset_cited","label":"Dataset formally cited","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"No identifier for the dataset appears anywhere in the paper, either in the reference list or in body text.","anchors":["FORCE11 Joint Declaration of Data Citation Principles (2014) — data should be cited as a first-","RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes","FsF-F3-01M — F-UJI: 'Metadata includes the identifier of the data it describes'"],"scored":true,"signal":null}]},"A":{"name":"Accessible","score":6.25,"criteria":[{"key":"a_data_openly_accessible","label":"Access route free of preconditions","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"The only route is a discretionary request to a person, which is not a followable process with a defined precondition.","anchors":["RDA-A1.1-01D — 'Data is accessible through a free access protocol'","FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data'","NSTC Desirable Characteristics of Data Repositories (2022) — 'Free and Easy Access'"],"scored":true,"signal":null},{"key":"a_access_conditions_stated","label":"Access level labelled","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"No access-level label is applied to the data; the data availability statement describes a request-based route without any standard vocabulary term. [majority verdict 'no' (4/5 passes agreed)]","anchors":["FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data'","RDA-A1-01M — metadata contains information to enable the user to get access to the data","COAR Controlled Vocabularies — Access Rights v1.0 (open / embargoed / restricted / metadata-onl"],"scored":false,"signal":null},{"key":"a_controlled_access_for_sensitive","label":"Gatekeeper for sensitive data","kind":"llm","weight":0.5,"fraction":0.5,"verdict":"partial","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"The gatekeeper is a natural person (the authors), not an institutional committee or repository.","anchors":["NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee","RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and ","NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse"],"scored":false,"signal":null},{"key":"a_timeline_retention","label":"Availability timing & retention","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper neither states when the data are available nor makes any commitment to persistence. [majority verdict 'no' (4/5 passes agreed)]","anchors":["NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines","NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy'","RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'"],"scored":false,"signal":null}]},"I":{"name":"Interoperable","score":0.0,"criteria":[{"key":"i_open_nonproprietary_format","label":"Open file format","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No file format is named for the released data.","anchors":["FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co","RDA-R1.3-02D — data is expressed in a machine-understandable community standard","RDA-I1-01D — data uses a knowledge representation expressed in a standardised format"],"scored":true,"signal":null},{"key":"i_community_standard_vocabulary","label":"Community standard / vocabulary","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No data or metadata community standard (e.g., MIAME, ISA-Tab, an ontology) is named in the paper.","anchors":["RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential)","RDA-R1.3-01D — 'Data complies with a community standard'","RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'"],"scored":false,"signal":null},{"key":"i_qualified_references","label":"Identifiers for the resources the data depend on","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No identifier for any external resource (e.g., source dataset, reference genome build, code) is provided; the reference list contains DOIs for publications, not for data resources.","anchors":["RDA-I3-01M — '(meta)data include references to other (meta)data'","RDA-I3-03M — 'metadata includes qualified references to other metadata'","FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'"],"scored":false,"signal":null}]},"R":{"name":"Reusable","score":25.0,"criteria":[{"key":"r_reuse_license","label":"Reuse licence","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","grounded":true,"rationale":"No license is named for the data; the article's CC BY license applies to the publication, not the data.","anchors":["RDA-R1.1-01M — 'Metadata includes information about the licence under which the data can be reu","RDA-R1.1-02M — 'Metadata refers to a standard reuse licence'","RDA-R1.1-03M — 'Metadata refers to a machine-understandable reuse licence'"],"scored":true,"signal":null},{"key":"r_provenance_methods","label":"Provenance of the data","kind":"llm","weight":1.0,"fraction":1.0,"verdict":"yes","evidence":"All index cases were genotyped in duplicate for LRRK2 Gly2019ser, by the TaqMan allelic discrimination Assay-By-Design method, in accordance with the manufacturer's instructions, with 8 ng of DNA mixed with the TaqMan Genotyping Master Mix (Thermo Fisher Scientific Inc.) and custom-produced TaqMan SNP genotyping assays [C_63498123_10 (rs34637584), Thermo Fisher Scientific Inc.] on an Applied Biosystems PRISM 7000 sequence detection system (Thermo Fisher Scientific Inc.) or LightCycler® 480 machine (Roche, Life Technologies SAS).","grounded":true,"rationale":"The text names specific instruments and kits (Applied Biosystems PRISM 7000, LightCycler 480, TaqMan assays) used to produce the data.","anchors":["RDA-R1.2-01M — 'Metadata includes provenance information according to community- specific standa","FsF-R1.2-01M — F-UJI: 'Metadata includes provenance information about data creation or generati","W3C PROV-O (W3C Recommendation, 2013) — the entity/activity/agent model of provenance"],"scored":false,"signal":null},{"key":"r_documentation_codebook","label":"Documentation / codebook","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":"Detailed clinical data are provided in Supplementary Table 2.","grounded":false,"rationale":"Variable definitions live inside the article (supplementary tables), not in a documentation object shipped with the data. 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For neuroimaging data, deposit in OpenNeuro or NeuroVault.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","why":"No persistent identifier string (DOI, Handle, ARK, URN, or repository accession) is given for the data.","gain":16.67,"priority":"essential","scored":true},{"key":"f_repository_named","dimension":"F","label":"Named repository","action":"Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession. 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'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","why":"No license is named for the data; the article's CC BY license applies to the publication, not the data.","gain":16.67,"priority":"essential","scored":true},{"key":"f_dataset_cited","dimension":"F","label":"Dataset formally cited","action":"Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit. 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An author-gated dataset dies with the author's email address, and 'on reasonable request' has been shown repeatedly not to yield data.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.","why":"The gatekeeper is a natural person (the authors), not an institutional committee or repository.","gain":0.0,"priority":"useful","scored":false},{"key":"i_qualified_references","dimension":"I","label":"Identifiers for the resources the data depend on","action":"Cite by identifier every resource the data depend on — the source datasets' accessions, the reference build (GRCh38 / GCA_000001405.28), the cohort application number, the code DOI — and register those relations on the dataset record (IsDerivedFrom, IsSupplementTo). A name is not a link: it cannot be resolved, versioned, or followed by a machine.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No identifier for any external resource (e.g., source dataset, reference genome build, code) is provided; the reference list contains DOIs for publications, not for data resources.","gain":0.0,"priority":"useful","scored":false},{"key":"a_timeline_retention","dimension":"A","label":"Availability timing & retention","action":"State when the data become available AND how long they will be retained — cite the repository's preservation policy. NIH DMS Element 4 asks for both; most papers give neither.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper neither states when the data are available nor makes any commitment to persistence. [majority verdict 'no' (4/5 passes agreed)]","gain":0.0,"priority":"useful","scored":false}],"suggestions":["Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Remove the precondition or justify it. Release the data at publication with no embargo, no registration wall, and no approval step — NIH's zero-embargo public- access rule (NOT-OD-25-101) has already made 'available at publication' the federal baseline for the article; the data should not lag behind it. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Attach a standard, machine-readable open licence to the deposit — CC0 or CC BY, which is what Horizon Europe and most funders expect — and print the licence identifier in the paper. 'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit. Cite the neuroimaging repository accession (e.g. from OpenNeuro or NeuroVault) in the reference list."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v8","fulltext_source":"epmc_xml"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v8","fair_fulltext_source":"epmc_xml","fair_has_llm":true,"fair_computed_at":"2026-07-20T11:21:36.640533Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}