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Article

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.

Journal of Alzheimer's disease : JAD - 30 May 2016

Sassi Celeste, Capozzo Rosa, Gibbs Raphael, Crews Cynthia, Zecca Chiara, Arcuti Simona, Copetti Massimiliano, Barulli Maria R, Brescia Vincenzo, Singleton Andrew B, Logroscino Giancarlo

Abstract excerpt

Heterozygous loss of function mutations in granulin represent a significant cause of frontotemporal lobar degeneration with ubiquitin and TDP-43 inclusions (FTLD-TDP). We report a novel GRN splice site mutation (c.709-2 A>T), segregating with frontotemporal dementia spectrum in a large family from southern Italy. The GRN c.709-2 A>T is predicted to result in the skipping of exon 8, leading to non-sense mediated...

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Identifiers

PMID: 27258413
DOI: 10.3233/JAD-151170
PMCID: PMC5985523

Genes

GRN

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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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