{"doi":"10.1016/j.prdoa.2023.100213","title":"A case of familial frontotemporal dementia caused by a progranulin gene mutation","abstract":"After Alzheimer’s disease, Frontotemporal dementia (FTD) is the most common cause of early-onset dementia. Several genetic mutations have been identified in familial FTD, with mutations in progranulin (GRN) accounting for approximately 20–25% of familial FTD cases and about 10% of total FTD cases. We report the case of a familial FTD patient with atypical parkinsonism who was found to have GRN frontotemporal dementia (GRN-FTD) with a pathogenic splice site mutation (c.709-2A > G) and notable phenotypic heterogeneity among family members.","journal":"Clinical Parkinsonism & Related Disorders","year":2023,"id":384428,"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":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9556,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1151625,"name":"N. A. Harrison","orcid":"0000-0001-9864-7686","position":1,"is_corresponding":false},{"id":1099302,"name":"Maria A. Schmidt","orcid":"0000-0001-8993-5301","position":2,"is_corresponding":false},{"id":1020613,"name":"Halima Amjad","orcid":null,"position":3,"is_corresponding":false},{"id":512864,"name":"Weiyi Mu","orcid":null,"position":4,"is_corresponding":false},{"id":271284,"name":"Sonja W. Scholz","orcid":"0000-0002-6623-0429","position":5,"is_corresponding":false},{"id":959703,"name":"Jee Bang","orcid":"0000-0003-3819-8617","position":6,"is_corresponding":false},{"id":253931,"name":"Alexander Pantelyat","orcid":"0000-0002-6427-7485","position":7,"is_corresponding":false},{"id":313016,"name":"Lauryn Currens","orcid":null,"position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-19T01:17:33.041385Z","pmid":"37583427","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":[]}