GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil

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dc.creatorLeonel Tadao Takada
dc.creatorKarolina g. César
dc.creatorJerusa Smid
dc.creatorCamila f. Nascimento
dc.creatorLea Tenenholz Grinberg
dc.creatorSônia Maria Dozzi Brucki
dc.creatorJessica r. Maximino
dc.creatorSarah Teixeira Camargos
dc.creatorGerson Chadi
dc.creatorPaulo Caramelli
dc.creatorRicardo Nitrini
dc.creatorValéria Santoro Bahia
dc.creatorHenrique Cerqueira Guimarães
dc.creatorThais v. m. m. Costa
dc.creatorThiago Cardoso Vale
dc.creatorRoberta Diehl Rodriguez
dc.creatorFábio Henrique de Gobbi Porto
dc.creatorJoao Carlos Barbosa Machado
dc.creatorRogério Gomes Beato
dc.date.accessioned2023-07-13T19:30:13Z
dc.date.accessioned2025-09-09T00:53:48Z
dc.date.available2023-07-13T19:30:13Z
dc.date.issued2016-12
dc.format.mimetypepdf
dc.identifier.doi10.1097/wad.0000000000000153
dc.identifier.issn08930341
dc.identifier.urihttps://hdl.handle.net/1843/56194
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofAlzheimer Disease & Associated Disorders
dc.rightsAcesso Restrito
dc.subjectDemência frontotemporal
dc.subjectAfasia Primária Progressiva
dc.subjectProgranulinas
dc.subjectProteínas tau
dc.subjectGenética
dc.subject.otherFrontotemporal dementia
dc.subject.otherPrimary progressive aphasia
dc.subject.otherProgranulin
dc.subject.othertau
dc.subject.otherGenetics
dc.titleGRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil
dc.typeArtigo de periódico
local.citation.epage317
local.citation.issue4
local.citation.spage310
local.citation.volume30
local.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%.
local.identifier.orcidhttps://orcid.org/0000-0002-6775-8022
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICA
local.publisher.initialsUFMG
local.url.externahttps://journals.lww.com/alzheimerjournal/Abstract/2016/10000/GRN_and_MAPT_Mutations_in_2_Frontotemporal.4.aspx

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