{"doi":"10.3233/jad-200318","title":"Clinical and Pathological Phenotypes of <i>LRP10</i> Variant Carriers with Dementia","abstract":"BACKGROUND: Rare variants in the low-density lipoprotein receptor related protein 10 gene (LRP10) have recently been implicated in the etiology of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). OBJECTIVE: We searched for LRP10 variants in a new series of brain donors with dementia and Lewy pathology (LP) at autopsy, or dementia and parkinsonism without LP but with various other neurodegenerative pathologies. METHODS: Sanger sequencing of LRP10 was performed in 233 donors collected by the Netherlands Brain Bank. RESULTS: Rare, possibly pathogenic heterozygous LRP10 variants were present in three patients: p.Gly453Ser in a patient with mixed Alzheimer's disease (AD)/Lewy body disease (LBD), p.Arg151Cys in a DLB patient, and p.Gly326Asp in an AD patient without LP. All three patients had a positive family history for dementia or PD. CONCLUSION: Rare LRP10 variants are present in some patients with dementia and different brain pathologies including DLB, mixed AD/LBD, and AD. These findings suggest a role for LRP10 across a broad neurodegenerative spectrum.","journal":"Journal of Alzheimer s Disease","year":2020,"id":89115,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9423,"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":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":451135,"name":"Hanneke Geut","orcid":"0000-0003-1044-744X","position":1,"is_corresponding":false},{"id":451136,"name":"Guido J. Breedveld","orcid":"0000-0002-4392-5906","position":2,"is_corresponding":false},{"id":451137,"name":"Demy J.S. Kuipers","orcid":"0000-0002-6242-6651","position":3,"is_corresponding":false},{"id":452134,"name":"Marialuisa Quadri","orcid":null,"position":4,"is_corresponding":false},{"id":59549,"name":"Netherlands Brain Bank","orcid":null,"position":5,"is_corresponding":false},{"id":282551,"name":"Annemieke J.M. Rozemüller","orcid":"0000-0003-2528-4428","position":6,"is_corresponding":false},{"id":233804,"name":"John C. van Swieten","orcid":"0000-0001-6278-6844","position":7,"is_corresponding":false},{"id":451138,"name":"Frank Jan de Jong","orcid":"0000-0002-7267-6806","position":8,"is_corresponding":false},{"id":7252,"name":"Wilma D. J. van de Berg","orcid":"0000-0002-6175-5357","position":9,"is_corresponding":false},{"id":451139,"name":"Vincenzo Bonifati","orcid":"0000-0002-9334-1263","position":10,"is_corresponding":false},{"id":451134,"name":"Leonie J.M. Vergouw","orcid":"0000-0001-5018-8281","position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":null,"created_at":"2026-07-18T22:01:50.225871Z","pmid":"32597809","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":[]}