A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report — Veronica Castelnovo (2023) | RDL Network
A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report
Article 2023 en
Authors
VC
Veronica Castelnovo
EC
Elisa Canu
TD
Teuta Domi
Abstract
1 min read
The new <i>GRN</i> p.H340TfsX21 mutation resulted in a case of nfvPPA characterized by fronto-temporal and striatal alterations, typical frontal asymmetric WMHs, and a fast progression toward a widespread cognitive and behavioral impairment, which reflects a frontotemporal lobar degeneration. Our findings extend the current knowledge of the phenotypic heterogeneity among <i>GRN</i> mutation carriers.
Edoardo Gioele Spinelli, Maria Luisa Mandelli, Miguel Santos‐Santos, Giulia Vinceti, Christa Watson, Federica Agosta, Massimo Filippi, Bruce L. Miller, William Seeley, Maria Gorno Tempini
Daniela Galimberti, Sara Cioffi, Chiara Fenoglio, María Serpente, Adrian L. Oblak, Federico J. Rodriguez-Porcel, Emanuela Oldoni, Matthew C. Hagen, Marina Arcaro, Elio Scarpini, Bernardino Ghetti, Alberto J. Espay
Discussion(0)
No comments yet. Be the first to comment.