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Article

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.

Neurogenetics - 1 Jul 2008

Borroni Barbara, Archetti Silvana, Alberici Antonella, Agosti Chiara, Gennarelli Massimo, Bigni Barbara, Bonvicini Cristian, Ferrari Maria, Bellelli Giuseppe, Galimberti Daniela, Scarpini Elio, Di Lorenzo Diego, Caimi Luigi, Caltagirone Carlo, Di Luca Monica, Padovani Alessandro

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) recognises high familial incidence, with up to 50% of patients reported to have a family history of similar dementia. It has been reported that mutations within progranulin (PGRN) gene are a major cause of FTLD in the USA and worldwide, counting for 5-10% of FTLD and for 20-25% of familiar FTLD cases. The aim of the present study was to define the role of PGRN genetic...

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PMID: 18392865
DOI: 10.1007/s10048-008-0127-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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