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 at 66. Clinical and instrumental workup excluded prion disease. At MRI, bilateral frontal lobe atrophy was present. A diagnosis of FTD was made, with a mainly apathetic phenotype. The PRNP P39L mutation may be an extremely rare cause of FTD (0.13).

PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population / E. Oldoni, G.G. Fumagalli, M. Serpente, C. Fenoglio, M. Scarioni, A. Arighi, G.E. Bruno, G. Talarico, A. Confaloni, P. Piscopo, B. Nacmias, S. Sorbi, I. Rainero, E. Rubino, L. Pinessi, G. Binetti, R. Ghidoni, L. Benussi, G. Grande, B. Arosio, D. Bursey, J.S. Kauwe, S.M.G. Cioffi, M. Arcaro, D. Mari, C. Mariani, E.A. Scarpini, D. Galimberti. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 50:2(2016 Jan), pp. 353-357. [10.3233/JAD-150863]

PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population

E. Oldoni
Primo
;
G.G. Fumagalli
Secondo
;
M. Serpente;C. Fenoglio;M. Scarioni;G. Grande;B. Arosio;S.M.G. Cioffi;M. Arcaro;D. Mari;E.A. Scarpini
Penultimo
;
D. Galimberti
Ultimo
2016-01

Abstract

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 at 66. Clinical and instrumental workup excluded prion disease. At MRI, bilateral frontal lobe atrophy was present. A diagnosis of FTD was made, with a mainly apathetic phenotype. The PRNP P39L mutation may be an extremely rare cause of FTD (0.13).
frontotemporal dementia; mutation; P39L; prion; PRNP; aged; atrophy; frontal lobe; frontotemporal dementia; humans; Italy; magnetic resonance imaging; male; memory disorders; memory, short-term; neuropsychological tests; prion proteins; prions; temporal lobe; genetic predisposition to disease; language; clinical psychology; geriatrics and gerontology; psychiatry and mental health
Settore MED/26 - Neurologia
Settore BIO/13 - Biologia Applicata
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/533665
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