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Article

Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.

Neurobiology of aging - 1 Mar 2011

Borroni Barbara, Bonvicini Cristian, Galimberti Daniela, Tremolizzo Lucio, Papetti Alice, Archetti Silvana, Turla Marinella, Alberici Antonella, Agosti Chiara, Premi Enrico, Appollonio Ildebrando, Rainero Innocenzo, Ferrarese Carlo, Gennarelli Massimo, Scarpini Elio, Padovani Alessandro

Abstract excerpt

Progranulin (PGRN) mutations have been recognized to be monogenic causes of frontotemporal lobar degeneration (FTLD). PGRN Thr272fs mutation in the Italian population has been previously identified. In the present study, we evaluated the occurrence of a founder effect studying 8 polymorphic microsatellite markers flanking the PGRN gene in 14 apparently unrelated families. We identified a common haplotype...

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PMID: 20947212
DOI: 10.1016/j.neurobiolaging.2010.08.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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