Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

doi:10.1016/j.neurobiolaging.2017.10.016

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Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Neurobiology of aging - 1 Feb 2018

Galimberti Daniela, Fumagalli Giorgio G, Fenoglio Chiara, Cioffi Sara M G, Arighi Andrea, Serpente Maria, Borroni Barbara, Padovani Alessandro, Tagliavini Fabrizio, Masellis Mario, Tartaglia Maria Carmela, van Swieten John, Meeter Lieke, Graff Caroline, de Mendonça Alexandre, Bocchetta Martina, Rohrer Jonathan D, Scarpini Elio

Abstract excerpt

We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in asymptomatic at risk members participating in the Genetic Frontotemporal Dementia Initiative, including 19 patients, 64 asymptomatic carriers, and 77 noncarriers. In addition, we evaluated a possible role of TMEM106B rs1990622 as a genetic modifier and...

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PMID: 29146050
DOI: 10.1016/j.neurobiolaging.2017.10.016
PMCID: PMC5759894

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