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Article

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

Journal of Alzheimer's disease : JAD - 1 Jan 2011

Rossi Giacomina, Piccoli Elena, Benussi Luisa, Caso Francesca, Redaelli Veronica, Magnani Giuseppe, Binetti Giuliano, Ghidoni Roberta, Perani Daniela, Giaccone Giorgio, Tagliavini Fabrizio

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder characterized by behavioural disturbances and cognitive decline. Here we describe an Italian family with FTLD showing remarkable phenotypic heterogeneity. Based on low plasma levels of progranulin, we analyzed the progranuli...

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Identifiers

PMID: 20930271
DOI: 10.3233/JAD-2010-101461

Genes

GRN
MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20930271-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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