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Article

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.

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

Marcon Gabriella, Rossi Giacomina, Giaccone Giorgio, Giovagnoli Anna Rita, Piccoli Elena, Zanini Sergio, Geatti Onelio, Toso Vito, Grisoli Marina, Tagliavini Fabrizio

Abstract excerpt

Mutations in the progranulin gene (GRN) were recently identified as an important cause of familial frontotemporal dementia (FTD). More than 60 pathogenic mutations have been reported up to now and prominent phenotypic variability within and among affected kindreds has been described. We have stud...

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Source

Identifiers

PMID: 21677378
DOI: 10.3233/JAD-2011-110332

Genes

GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21677378-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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