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Article

Understanding phenotype variability in frontotemporal lobar degeneration due to granulin mutation.

Neurobiology of aging - 1 May 2014

Bonvicini Cristian, Milanesi Elena, Pilotto Andrea, Cattane Nadia, Premi Enrico, Archetti Silvana, Padovani Alessandro, Gennarelli Massimo, Borroni Barbara

Abstract excerpt

Phenotype in patients with granulin (GRN) mutations is unpredictable, ranging from behavioral variant frontotemporal dementia (bvFTD) to agrammatic variant of primary progressive aphasia (avPPA). To date the wide clinical variability of FTLD-GRN remains unexplained. The aim of the study was to identify genetic pathways differentiating phenotypic expression in patients carrying GRN mutations. Patients carrying the...

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Source

Identifiers

PMID: 24368088
DOI: 10.1016/j.neurobiolaging.2013.10.097

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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