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Article

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.

Journal of Alzheimer's disease : JAD - 1 Jan 2014

Puoti Gianfranco, Lerza Maria Cristina, Ferretti Maria Giulia, Bugiani Orso, Tagliavini Fabrizio, Rossi Giacomina

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a very heterogeneous disorder. It is genetically linked to three major genes: microtubule-associated protein tau (MAPT), progranulin (GRN), and C9ORF72. In particular, mutations in GRN account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvFTD) to primary progressive aphasia, including...

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Identifiers

PMID: 25024321
DOI: 10.3233/JAD-140717

Genes

GRN
CBS
MAPT

Provenance

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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