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http://hdl.handle.net/1843/56194| Tipo: | Artigo de Periódico |
| Título: | GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil |
| Autor(es): | Leonel Tadao Takada Karolina g. César Jerusa Smid Camila f. Nascimento Lea Tenenholz Grinberg Sônia Maria Dozzi Brucki Jessica r. Maximino Sarah Teixeira Camargos Gerson Chadi Paulo Caramelli Ricardo Nitrini Valéria Santoro Bahia Henrique Cerqueira Guimarães Thais v. m. m. Costa Thiago Cardoso Vale Roberta Diehl Rodriguez Fábio Henrique de Gobbi Porto Joao Carlos Barbosa Machado Rogério Gomes Beato |
| Resumo: | Background: 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%. |
| Assunto: | Demência frontotemporal Afasia Primária Progressiva Progranulinas Proteínas tau Genética |
| Idioma: | eng |
| País: | Brasil |
| Editor: | Universidade Federal de Minas Gerais |
| Sigla da Instituição: | UFMG |
| Departamento: | MED - DEPARTAMENTO DE CLÍNICA MÉDICA |
| Tipo de Acesso: | Acesso Restrito |
| Identificador DOI: | 10.1097/wad.0000000000000153 |
| URI: | http://hdl.handle.net/1843/56194 |
| Data do documento: | Dez-2016 |
| metadata.dc.url.externa: | https://journals.lww.com/alzheimerjournal/Abstract/2016/10000/GRN_and_MAPT_Mutations_in_2_Frontotemporal.4.aspx |
| metadata.dc.relation.ispartof: | Alzheimer Disease & Associated Disorders |
| Aparece nas coleções: | Artigo de Periódico |
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