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Takada, Leonel T.; Bahia, Valeria S.; Guimarães, Henrique C.; Costa, Thais V. M. M.; Vale, Thiago C.; Rodriguez, Roberta D.; Porto, Fabio H. G.; Machado, João C. B.; Beato, Rogério G.; Cesar, Karolina G.; Smid, Jerusa; Nascimento, Camila F.; Grinberg, Lea T.; Brucki, Sonia M. D.; Maximino, Jessica R.; Camargos, Sarah T.; Chadi, Gerson; Caramelli, Paulo; Nitrini, Ricardo

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

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  • Medientyp: E-Artikel
  • Titel: GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil
  • Beteiligte: Takada, Leonel T.; Bahia, Valeria S.; Guimarães, Henrique C.; Costa, Thais V. M. M.; Vale, Thiago C.; Rodriguez, Roberta D.; Porto, Fabio H. G.; Machado, João C. B.; Beato, Rogério G.; Cesar, Karolina G.; Smid, Jerusa; Nascimento, Camila F.; Grinberg, Lea T.; Brucki, Sonia M. D.; Maximino, Jessica R.; Camargos, Sarah T.; Chadi, Gerson; Caramelli, Paulo; Nitrini, Ricardo
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 2016
  • Erschienen in: Alzheimer Disease & Associated Disorders
  • Sprache: Englisch
  • DOI: 10.1097/wad.0000000000000153
  • ISSN: 0893-0341
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:sec> <jats:title>Background:</jats:title> <jats:p>Mutations in <jats:italic toggle="yes">GRN</jats:italic> (progranulin) and <jats:italic toggle="yes">MAPT</jats:italic> (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.</jats:p> </jats:sec> <jats:sec> <jats:title>Objective:</jats:title> <jats:p>We aimed to investigate the frequencies of <jats:italic toggle="yes">GRN</jats:italic> and <jats:italic toggle="yes">MAPT</jats:italic> mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods:</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Results:</jats:title> <jats:p>Mutations in <jats:italic toggle="yes">GRN</jats:italic> were identified in 7 probands, and in <jats:italic toggle="yes">MAPT</jats:italic>, in 2 probands. We identified 3 novel <jats:italic toggle="yes">GRN</jats:italic> 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 <jats:italic toggle="yes">GRN</jats:italic> mutations.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions:</jats:title> <jats:p>The frequency of <jats:italic toggle="yes">GRN</jats:italic> mutations was 9.6% and that of <jats:italic toggle="yes">MAPT</jats:italic> mutations was 7.1%. Among familial cases of FTD, the frequency of <jats:italic toggle="yes">GRN</jats:italic> mutations was 31.5% and that of <jats:italic toggle="yes">MAPT</jats:italic> mutations was 10.5%.</jats:p> </jats:sec>