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GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil
- Takada, Leonel T;
- Bahia, Valeria S;
- Guimarães, Henrique C;
- Costa, Thais VMM;
- Vale, Thiago C;
- Rodriguez, Roberta D;
- Porto, Fabio HG;
- Machado, João CB;
- Beato, Rogério G;
- Cesar, Karolina G;
- Smid, Jerusa;
- Nascimento, Camila F;
- Grinberg, Lea T;
- Brucki, Sonia MD;
- Maximino, Jessica R;
- Camargos, Sarah T;
- Chadi, Gerson;
- Caramelli, Paulo;
- Nitrini, Ricardo
- et al.
Published Web Location
https://doi.org/10.1097/wad.0000000000000153Abstract
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%.Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
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