PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.

doi:10.3233/JAD-150863

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Article

PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.

Journal of Alzheimer's disease : JAD - 1 Jan 2016

Oldoni Emanuela, Fumagalli Giorgio G, Serpente Maria, Fenoglio Chiara, Scarioni Marta, Arighi Andrea, Bruno Giuseppe, Talarico Giuseppina, Confaloni Annamaria, Piscopo Paola, Nacmias Benedetta, Sorbi Sandro, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Binetti Giuliano, Ghidoni Roberta, Benussi Luisa, Grande Giulia, Arosio Beatrice, Bursey Devan, Kauwe John S, Cioffi Sara Mg, Arcaro Marina, Mari Daniela, Mariani Claudio, Scarpini Elio, Galimberti Daniela

Abstract excerpt

The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among patients. The patient was a 67-year-old male, with a positive family history for dementia, who developed apathy, short term memory deficit, and postural instability...

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PMID: 26757195
DOI: 10.3233/JAD-150863

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PRNP

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