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Article

Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.

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

Pietroboni Anna M, Fumagalli Giorgio G, Ghezzi Laura, Fenoglio Chiara, Cortini Francesca, Serpente Maria, Cantoni Claudia, Rotondo Emanuela, Corti Priscilla, Carecchio Miryam, Bassi Mariateresa, Bresolin Nereo, Galbiati Domenico, Galimberti Daniela, Scarpini Elio

Abstract excerpt

The Asp22fs(g.63_64insC) mutation in progranulin gene (GRN) has been so far reported in one patient who developed frontotemporal dementia (FTD) at the age of 65. Here, we describe the clinical heterogeneity associated with the GRN Asp22fs mutation in a large Italian family. Clinical and instrumen...

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Identifiers

PMID: 21258152
DOI: 10.3233/JAD-2011-101704

Genes

GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21258152-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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