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Article

One novel GRN null mutation, two different aphasia phenotypes.

Neurobiology of aging - 1 Mar 2020

Coppola Cinzia, Oliva Mariano, Saracino Dario, Pappatà Sabina, Zampella Emilia, Cimini Sara, Ricci Martina, Giaccone Giorgio, Di Iorio Giuseppe, Rossi Giacomina

Abstract excerpt

Progranulin gene (GRN) mutations are among the leading causes of frontotemporal lobar degeneration, a group of neurodegenerative diseases characterized by remarkable clinical heterogeneity. In this article, we report the new GRN 708+4A>T splicing mutation, identified in 2 siblings of a family with several members affected by cognitive, behavioral, and motor disorders. Plasma progranulin dosage and GRN expression...

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Identifiers

PMID: 31837909
DOI: 10.1016/j.neurobiolaging.2019.11.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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