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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/56194
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dc.creatorLeonel Tadao Takadapt_BR
dc.creatorKarolina g. Césarpt_BR
dc.creatorJerusa Smidpt_BR
dc.creatorCamila f. Nascimentopt_BR
dc.creatorLea Tenenholz Grinbergpt_BR
dc.creatorSônia Maria Dozzi Bruckipt_BR
dc.creatorJessica r. Maximinopt_BR
dc.creatorSarah Teixeira Camargospt_BR
dc.creatorGerson Chadipt_BR
dc.creatorPaulo Caramellipt_BR
dc.creatorRicardo Nitrinipt_BR
dc.creatorValéria Santoro Bahiapt_BR
dc.creatorHenrique Cerqueira Guimarãespt_BR
dc.creatorThais v. m. m. Costapt_BR
dc.creatorThiago Cardoso Valept_BR
dc.creatorRoberta Diehl Rodriguezpt_BR
dc.creatorFábio Henrique de Gobbi Portopt_BR
dc.creatorJoao Carlos Barbosa Machadopt_BR
dc.creatorRogério Gomes Beatopt_BR
dc.date.accessioned2023-07-13T19:30:13Z-
dc.date.available2023-07-13T19:30:13Z-
dc.date.issued2016-12-
dc.citation.volume30pt_BR
dc.citation.issue4pt_BR
dc.citation.spage310pt_BR
dc.citation.epage317pt_BR
dc.identifier.doi10.1097/wad.0000000000000153pt_BR
dc.identifier.issn08930341pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/56194-
dc.description.resumoBackground: Mutations in GRN (progranulin) and MAPT(microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking. Objective: We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools. Methods: We included 76 probands diagnosed with behavioral variant FTD (n= 55), semantic-variant Primary Progressive Aphasia (PPA) (n = 11), or nonfluent-variant PPA (n= 10). Twenty-five percent of the cohort had at least 1 relative affected with FTD.Results: Mutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations.Conclusions: The frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofAlzheimer Disease & Associated Disorders-
dc.rightsAcesso Restritopt_BR
dc.subjectFrontotemporal dementiapt_BR
dc.subjectPrimary progressive aphasiapt_BR
dc.subjectProgranulinpt_BR
dc.subjecttaupt_BR
dc.subjectGeneticspt_BR
dc.subject.otherDemência frontotemporalpt_BR
dc.subject.otherAfasia Primária Progressivapt_BR
dc.subject.otherProgranulinaspt_BR
dc.subject.otherProteínas taupt_BR
dc.subject.otherGenéticapt_BR
dc.titleGRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazilpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://journals.lww.com/alzheimerjournal/Abstract/2016/10000/GRN_and_MAPT_Mutations_in_2_Frontotemporal.4.aspxpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-6775-8022pt_BR
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