{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T02:14:20Z","timestamp":1761185660076,"version":"build-2065373602"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC2020"],"award-info":[{"award-number":["RC2020"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006259","name":"Teva Pharmaceutical Industries","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006259","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","prd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.parkreldis.2021.01.024","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T05:23:03Z","timestamp":1612329783000},"page":"82-90","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study"],"prefix":"10.1016","volume":"84","author":[{"given":"Marina","family":"Picillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2782-6369","authenticated-orcid":false,"given":"Monia","family":"Ginevrino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Dati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Scannapieco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annamaria","family":"Vallelunga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Siano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampiero","family":"Volpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ceravolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Nicoletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edoardo","family":"Cicero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Nicoletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Zappia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3226-1112","authenticated-orcid":false,"given":"Silvia","family":"Peverelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Silani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Pellecchia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Barone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.parkreldis.2021.01.024_bib1","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1136\/jnnp-2014-308350","article-title":"Neuronal network disintegration: common pathways linking neurodegenerative diseases","volume":"87","author":"Ahmed","year":"2016","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"8","key":"10.1016\/j.parkreldis.2021.01.024_bib2","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1007\/s00702-019-02028-6","article-title":"Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders","volume":"126","author":"Jellinger","year":"2019","journal-title":"J. Neural. Transm."},{"issue":"9","key":"10.1016\/j.parkreldis.2021.01.024_bib3","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1002\/mds.25509","article-title":"\u201cAtypical\u201d atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide","volume":"28","author":"Stamelou","year":"2013","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib4","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/bs.irn.2019.10.008","article-title":"Genetic mimics of the non-genetic atypical parkinsonian disorders \u2013 the \u201catypical\u201d atypical","volume":"149","author":"Giagkou","year":"2019","journal-title":"Int. Rev. Neurobiol."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib5","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1093\/brain\/awaa097","article-title":"Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes","volume":"143","author":"Murley","year":"2020","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.parkreldis.2021.01.024_bib6","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/mdc3.12406","article-title":"Progressive supranuclear palsy-like phenotype in a GBA E326K mutation carrier","volume":"4","author":"Picillo","year":"2016","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib7","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.parkreldis.2016.12.002","article-title":"Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene","volume":"35","author":"Bougea","year":"2017","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib8","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1002\/mds.28195","article-title":"GBA-related Parkinson\u2019s disease: dissection of genotype-phenotype correlation in a large Italian cohort","volume":"35","author":"Petrucci","year":"2020","journal-title":"Mov. Disord."},{"issue":"3","key":"10.1016\/j.parkreldis.2021.01.024_bib9","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s10048-017-0518-4","article-title":"Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation","volume":"18","author":"Carecchio","year":"2017","journal-title":"Neurogenetics"},{"issue":"10047","key":"10.1016\/j.parkreldis.2021.01.024_bib10","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(16)00737-6","article-title":"The frontotemporal dementia-motor neuron disease continuum","volume":"388","author":"Burrell","year":"2016","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.parkreldis.2021.01.024_bib11","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in non coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"De Jesus-Hernandez","year":"2011","journal-title":"Neuron"},{"issue":"9","key":"10.1016\/j.parkreldis.2021.01.024_bib12","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1002\/mds.27786","article-title":"The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy","volume":"34","author":"Jabbari","year":"2019","journal-title":"Mov. Disord."},{"issue":"9","key":"10.1016\/j.parkreldis.2021.01.024_bib13","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1093\/brain\/awz191","article-title":"Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study","volume":"142","author":"Tan","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2021.01.024_bib14","first-page":"1","article-title":"Frontotemporal dementia spectrum: first genetic screening in a Greek cohort","volume":"224","author":"Ramos","year":"2019","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.parkreldis.2021.01.024_bib15","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.parkreldis.2020.08.013","article-title":"Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy","volume":"79","author":"Picillo","year":"2020","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib16","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/mds.26424","article-title":"MDS clinical diagnostic criteria for Parkinson's disease","volume":"30","author":"Postuma","year":"2015","journal-title":"Mov. Disord."},{"issue":"1","key":"10.1016\/j.parkreldis.2021.01.024_bib17","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1212\/WNL.0000000000004058","article-title":"Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium","volume":"89","author":"McKeith","year":"2017","journal-title":"Neurology"},{"year":"2013","series-title":"Diagnostic and Statistical Manual of Mental Disorders (5th ed.). Arlington, VA","key":"10.1016\/j.parkreldis.2021.01.024_bib18"},{"issue":"5","key":"10.1016\/j.parkreldis.2021.01.024_bib19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"8","key":"10.1016\/j.parkreldis.2021.01.024_bib20","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.jalz.2017.01.014","article-title":"Alzheimer's association ISTAART atypical alzheimer's disease and associated syndromes professional interest area. Consensus classification of posterior cortical atrophy","volume":"13","author":"Crutch","year":"2017","journal-title":"Alzheimers Dement."},{"issue":"5","key":"10.1016\/j.parkreldis.2021.01.024_bib21","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1212\/WNL.0b013e31827f0fd1","article-title":"Criteria for the diagnosis of corticobasal degeneration","volume":"80","author":"Armstrong","year":"2013","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.parkreldis.2021.01.024_bib22","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3233\/JAD-200151","article-title":"Clinical and molecular characterization of a novel progranulin deletion associated with different phenotypes","volume":"76","author":"Picillo","year":"2020","journal-title":"J. Alzheimers Dis."},{"issue":"9","key":"10.1016\/j.parkreldis.2021.01.024_bib23","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.parkreldis.2021.01.024_bib24","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1002\/mdc3.13037","article-title":"APP-related Corticobasal Syndrome: expanding the list of Corticobasal Degeneration look alikes","volume":"7","author":"Abate","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib25","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s12883-020-02023-5","article-title":"Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report","volume":"21","author":"Picillo","year":"2021","journal-title":"BMC Neurol."},{"issue":"3","key":"10.1016\/j.parkreldis.2021.01.024_bib26","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/nrneurol.2016.14","article-title":"Parkinsonism, movement disorders and genetics in frontotemporal dementia","volume":"12","author":"Baizabal-Carvallo","year":"2016","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib27","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s10048-011-0288-3","article-title":"Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia","volume":"12","author":"Quadri","year":"2011","journal-title":"Neurogenetics"},{"issue":"8","key":"10.1016\/j.parkreldis.2021.01.024_bib28","doi-asserted-by":"crossref","first-page":"6616","DOI":"10.1002\/mdc3.12823","article-title":"Multiple system Atrophy with predominant striatonigral degeneration and TAR DNA-binding protein of 43 kDa pathology: an unusual variant of multiple system Atrophy","volume":"6","author":"Nwabuobi","year":"2019","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib29","doi-asserted-by":"crossref","first-page":"747","DOI":"10.3233\/JAD-131151","article-title":"Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism","volume":"38","author":"Carecchio","year":"2014","journal-title":"J. Alzheim. Dis."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib30","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.parkreldis.2020.09.019","article-title":"Isolated parkinsonismi s an atypical presentation of GRn and C9orf72 gene mutations","volume":"80","author":"Carneiro","year":"2020","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2021.01.024_bib31","doi-asserted-by":"crossref","first-page":"753","DOI":"10.3233\/JAD-170661","article-title":"The heritability of frontotemporal lobar degeneration: validation of pedigree classification criteria in a Northern Italy cohort","volume":"61","author":"Fostinelli","year":"2018","journal-title":"J. Alzheim. Dis."},{"issue":"4","key":"10.1016\/j.parkreldis.2021.01.024_bib32","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/humu.20950","article-title":"High frequency of TARDBP gene mutations in Italian patients with Amyotrophic Lateral Sclerosis","volume":"30","author":"Corrado","year":"2009","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.parkreldis.2021.01.024_bib33","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jnnp-2017-317234","article-title":"Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains","volume":"89","author":"Keogh","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802021000407?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802021000407?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:22:01Z","timestamp":1761178921000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802021000407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":33,"alternative-id":["S1353802021000407"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2021.01.024","relation":{},"ISSN":["1353-8020"],"issn-type":[{"type":"print","value":"1353-8020"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2021.01.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}