info:eu-repo/semantics/publishedVersion
Progranulin c.709‐1g>a variant in an argentine family with behavioral variant frontotemporal dementia and semantic primary progressive aphasia
Fecha
2019Registro en:
Progranulin c.709‐1g>a variant in an argentine family with behavioral variant frontotemporal dementia and semantic primary progressive aphasia; Alzheimer's Association International Conference; Los Angeles; Estados Unidos; 2019; P1315-P1315
1552-5260
CONICET Digital
CONICET
Autor
Niikado, Matías
Calandri, Ismael
Barbieri Kennedy, Micaela
Itzcovich, Tatiana
Martinetto, Horacio Enrique
Vazquez, Silvia
Allegri, Ricardo Francisco
Sevlever, Gustavo
Surace, Ezequiel Ignacio
Resumen
Mutations in GRN are a frequent genetic cause of frontotemporal lobar degeneration. In this study we describe the finding of GRN variant c.709‐1G>A (p.Ala237fs) in an Argentine family of Basque origin with a history of behavioral variant frontotemporal dementia (bvFTD) and semantic primary progressive aphasia (svPPA).