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

Emanuela Oldoni, G.G. Fumagalli, M. Serpente, C. Fenoglio, M. Scarioni, A. Arighi, G. Bruno, G. Talarico, A. Confaloni, P. Piscopo, B. Nacmias, S. Sorbi, Innocenzo Rainero, E. Rubino, L. Pinessi, G. Binetti, R. Ghidoni, L. Benussi, G. Grande, B. ArosioDevan Bursey, John S K Kauwe, S.M. Cioffi, M. Arcaro, D. Mari, C. Mariani, E. Scarpini, D. Galimberti

Research output: Contribution to journalArticle

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). © 2016 - IOS Press and the authors.
Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalJournal of Alzheimer's Disease
Volume50
Issue number2
DOIs
Publication statusPublished - 2016

Fingerprint

Frontotemporal Dementia
Population
Genes
Apathy
Prion Diseases
Memory Disorders
Frontal Lobe
Short-Term Memory
Atrophy
Dementia
Phenotype
Mutation
Prion Proteins

Keywords

  • Frontotemporal dementia
  • mutation
  • P39L
  • prion
  • PRNP
  • adult
  • aged
  • apathy
  • Article
  • body posture
  • brain atrophy
  • controlled study
  • diffusion weighted imaging
  • family history
  • female
  • frontal lobe
  • frontotemporal dementia
  • gene
  • genetic variability
  • human
  • Italian (citizen)
  • major clinical study
  • male
  • missense mutation
  • nuclear magnetic resonance imaging
  • phenotype
  • priority journal
  • PRNP gene
  • short term memory

Cite this

Oldoni, E., Fumagalli, G. G., Serpente, M., Fenoglio, C., Scarioni, M., Arighi, A., ... Galimberti, D. (2016). PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population. Journal of Alzheimer's Disease, 50(2), 353-357. https://doi.org/10.3233/JAD-150863

PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population. / Oldoni, Emanuela; Fumagalli, G.G.; Serpente, M.; Fenoglio, C.; Scarioni, M.; Arighi, A.; Bruno, G.; Talarico, G.; Confaloni, A.; Piscopo, P.; Nacmias, B.; Sorbi, S.; Rainero, Innocenzo; Rubino, E.; Pinessi, L.; Binetti, G.; Ghidoni, R.; Benussi, L.; Grande, G.; Arosio, B.; Bursey, Devan; Kauwe, John S K; Cioffi, S.M.; Arcaro, M.; Mari, D.; Mariani, C.; Scarpini, E.; Galimberti, D.

In: Journal of Alzheimer's Disease, Vol. 50, No. 2, 2016, p. 353-357.

Research output: Contribution to journalArticle

Oldoni, E, Fumagalli, GG, Serpente, M, Fenoglio, C, Scarioni, M, Arighi, A, Bruno, G, Talarico, G, Confaloni, A, Piscopo, P, Nacmias, B, Sorbi, S, Rainero, I, Rubino, E, Pinessi, L, Binetti, G, Ghidoni, R, Benussi, L, Grande, G, Arosio, B, Bursey, D, Kauwe, JSK, Cioffi, SM, Arcaro, M, Mari, D, Mariani, C, Scarpini, E & Galimberti, D 2016, 'PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population', Journal of Alzheimer's Disease, vol. 50, no. 2, pp. 353-357. https://doi.org/10.3233/JAD-150863
Oldoni E, Fumagalli GG, Serpente M, Fenoglio C, Scarioni M, Arighi A et al. PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population. Journal of Alzheimer's Disease. 2016;50(2):353-357. https://doi.org/10.3233/JAD-150863
Oldoni, Emanuela ; Fumagalli, G.G. ; Serpente, M. ; Fenoglio, C. ; Scarioni, M. ; Arighi, A. ; Bruno, G. ; Talarico, G. ; Confaloni, A. ; Piscopo, P. ; Nacmias, B. ; Sorbi, S. ; Rainero, Innocenzo ; Rubino, E. ; Pinessi, L. ; Binetti, G. ; Ghidoni, R. ; Benussi, L. ; Grande, G. ; Arosio, B. ; Bursey, Devan ; Kauwe, John S K ; Cioffi, S.M. ; Arcaro, M. ; Mari, D. ; Mariani, C. ; Scarpini, E. ; Galimberti, D. / PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population. In: Journal of Alzheimer's Disease. 2016 ; Vol. 50, No. 2. pp. 353-357.
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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). {\circledC} 2016 - IOS Press and the authors.",
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author = "Emanuela Oldoni and G.G. Fumagalli and M. Serpente and C. Fenoglio and M. Scarioni and A. Arighi and G. Bruno and G. Talarico and A. Confaloni and P. Piscopo and B. Nacmias and S. Sorbi and Innocenzo Rainero and E. Rubino and L. Pinessi and G. Binetti and R. Ghidoni and L. Benussi and G. Grande and B. Arosio and Devan Bursey and Kauwe, {John S K} and S.M. Cioffi and M. Arcaro and D. Mari and C. Mariani and E. Scarpini and D. Galimberti",
note = "Cited By :1 Export Date: 16 March 2017 CODEN: JADIF Correspondence Address: Galimberti, D.; Department of Pathophysiology and Transplantation, University of Milan, IRCCS Ospedale PoliclinicoItaly; email: daniela.galimberti@unimi.it References: Galimberti, D., Dell'Osso, B., Altamura, A.C., Scarpini, E., Psychiatric symptoms in frontotemporal dementia: Epidemiology, phenotypes, and differential diagnosis (2015) Biol Psychiatry, 78, pp. 684-692; Moore, R.C., Xiang, F., Monaghan, J., Han, D., Zhang, Z., Edstr{\"o}m, L., Anvret, M., Prusiner, S.B., Huntington disease phenocopy is a familial prion disease (2001) Am J Hum Genet, 69, pp. 1385-1388; Guerreiro, R., Bŕas, J., Wojtas, A., Rademakers, R., Hardy, J., Graff-Radford, N., A nonsense mutation in PRNP associated with clinical Alzheimer's disease (2014) Neurobiol Aging, 35, pp. 2656e13-2656e16; Clerici, F., Elia, A., Girotti, F., Contri, P., Mariani, C., Tagliavini, F., Di Fede, G., Atypical presentation of Creutzfeldt-Jakob disease: The first Italian case associated with E196K mutation in the PRNP gene (2008) J Neurol Sci, 275, pp. 145-147; Nitrini, R., Teixeira Da Silva, L.S., Rosemberg, S., Caramelli, P., Carrilho, P.E., Iughetti, P., Passos-Bueno, M.R., LeBlanc, A., Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 (2001) Arq Neuropsiquiatr, 59, pp. 161-164; Bernardi, L., Cupidi, C., Frangipane, F., Anfossi, M., Gallo, M., Conidi, M.E., Vasso, F., Bruni, A.C., Novel N-Terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome (2014) Neurobiol Aging, 35, pp. 2657e7-2657e11; Neary, D., Snowden, J.S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Benson, D.F., Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria (1998) Neurology, 51, pp. 1546-1554; McKhann, G.M., Albert, M.S., Grossman, M., Miller, B., Dickson, D., Trojanowski, J.Q., Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease (2001) Arch Neurol, 58, pp. 1803-1809; Rascovsky, K., Hodges, J.R., Knopman, D., Mendez, M.F., Kramer, J.H., Neuhaus, J., Van Swieten, J.C., Miller, B.L., Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia (2011) Brain, 134, pp. 2456-2477; Galimberti, D., Fenoglio, C., Serpente, M., Villa, C., Bonsi, R., Arighi, A., Fumagalli, G.G., Scarpini, E., Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation (2013) Biol Psychiatry, 74, pp. 384-391; Duits, F.H., Teunissen, C.E., Bouwman, F.H., Visser, P.-J., Mattsson, N., Zetterberg, H., Blennow, K., Van Der Flier, W.M., The cerebrospinal fluid {"}Alzheimer profile': Easily said, but what does it mean' (2014) Alzheimers Dement, 10, pp. 713-723. , e2; Zerr, I., Kallenberg, K., Summers, D.M., Romero, C., Taratuto, A., Heinemann, U., Breithaupt, M., Sanchez-Juan, P., Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease (2009) Brain, 132, pp. 2659-2668; B{\'e}land, M., Roucou, X., The prion protein unstructured N-Terminal region is a broad-spectrum molecular sensor with diverse and contrasting potential functions (2012) J Neurochem, 120, pp. 853-868",
year = "2016",
doi = "10.3233/JAD-150863",
language = "English",
volume = "50",
pages = "353--357",
journal = "Journal of Alzheimer's Disease",
issn = "1387-2877",
publisher = "IOS Press",
number = "2",

}

TY - JOUR

T1 - PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population

AU - Oldoni, Emanuela

AU - Fumagalli, G.G.

AU - Serpente, M.

AU - Fenoglio, C.

AU - Scarioni, M.

AU - Arighi, A.

AU - Bruno, G.

AU - Talarico, G.

AU - Confaloni, A.

AU - Piscopo, P.

AU - Nacmias, B.

AU - Sorbi, S.

AU - Rainero, Innocenzo

AU - Rubino, E.

AU - Pinessi, L.

AU - Binetti, G.

AU - Ghidoni, R.

AU - Benussi, L.

AU - Grande, G.

AU - Arosio, B.

AU - Bursey, Devan

AU - Kauwe, John S K

AU - Cioffi, S.M.

AU - Arcaro, M.

AU - Mari, D.

AU - Mariani, C.

AU - Scarpini, E.

AU - Galimberti, D.

N1 - Cited By :1 Export Date: 16 March 2017 CODEN: JADIF Correspondence Address: Galimberti, D.; Department of Pathophysiology and Transplantation, University of Milan, IRCCS Ospedale PoliclinicoItaly; email: daniela.galimberti@unimi.it References: Galimberti, D., Dell'Osso, B., Altamura, A.C., Scarpini, E., Psychiatric symptoms in frontotemporal dementia: Epidemiology, phenotypes, and differential diagnosis (2015) Biol Psychiatry, 78, pp. 684-692; Moore, R.C., Xiang, F., Monaghan, J., Han, D., Zhang, Z., Edström, L., Anvret, M., Prusiner, S.B., Huntington disease phenocopy is a familial prion disease (2001) Am J Hum Genet, 69, pp. 1385-1388; Guerreiro, R., Bŕas, J., Wojtas, A., Rademakers, R., Hardy, J., Graff-Radford, N., A nonsense mutation in PRNP associated with clinical Alzheimer's disease (2014) Neurobiol Aging, 35, pp. 2656e13-2656e16; Clerici, F., Elia, A., Girotti, F., Contri, P., Mariani, C., Tagliavini, F., Di Fede, G., Atypical presentation of Creutzfeldt-Jakob disease: The first Italian case associated with E196K mutation in the PRNP gene (2008) J Neurol Sci, 275, pp. 145-147; Nitrini, R., Teixeira Da Silva, L.S., Rosemberg, S., Caramelli, P., Carrilho, P.E., Iughetti, P., Passos-Bueno, M.R., LeBlanc, A., Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 (2001) Arq Neuropsiquiatr, 59, pp. 161-164; Bernardi, L., Cupidi, C., Frangipane, F., Anfossi, M., Gallo, M., Conidi, M.E., Vasso, F., Bruni, A.C., Novel N-Terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome (2014) Neurobiol Aging, 35, pp. 2657e7-2657e11; Neary, D., Snowden, J.S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Benson, D.F., Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria (1998) Neurology, 51, pp. 1546-1554; McKhann, G.M., Albert, M.S., Grossman, M., Miller, B., Dickson, D., Trojanowski, J.Q., Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease (2001) Arch Neurol, 58, pp. 1803-1809; Rascovsky, K., Hodges, J.R., Knopman, D., Mendez, M.F., Kramer, J.H., Neuhaus, J., Van Swieten, J.C., Miller, B.L., Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia (2011) Brain, 134, pp. 2456-2477; Galimberti, D., Fenoglio, C., Serpente, M., Villa, C., Bonsi, R., Arighi, A., Fumagalli, G.G., Scarpini, E., Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation (2013) Biol Psychiatry, 74, pp. 384-391; Duits, F.H., Teunissen, C.E., Bouwman, F.H., Visser, P.-J., Mattsson, N., Zetterberg, H., Blennow, K., Van Der Flier, W.M., The cerebrospinal fluid "Alzheimer profile': Easily said, but what does it mean' (2014) Alzheimers Dement, 10, pp. 713-723. , e2; Zerr, I., Kallenberg, K., Summers, D.M., Romero, C., Taratuto, A., Heinemann, U., Breithaupt, M., Sanchez-Juan, P., Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease (2009) Brain, 132, pp. 2659-2668; Béland, M., Roucou, X., The prion protein unstructured N-Terminal region is a broad-spectrum molecular sensor with diverse and contrasting potential functions (2012) J Neurochem, 120, pp. 853-868

PY - 2016

Y1 - 2016

N2 - 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). © 2016 - IOS Press and the authors.

AB - 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). © 2016 - IOS Press and the authors.

KW - Frontotemporal dementia

KW - mutation

KW - P39L

KW - prion

KW - PRNP

KW - adult

KW - aged

KW - apathy

KW - Article

KW - body posture

KW - brain atrophy

KW - controlled study

KW - diffusion weighted imaging

KW - family history

KW - female

KW - frontal lobe

KW - frontotemporal dementia

KW - gene

KW - genetic variability

KW - human

KW - Italian (citizen)

KW - major clinical study

KW - male

KW - missense mutation

KW - nuclear magnetic resonance imaging

KW - phenotype

KW - priority journal

KW - PRNP gene

KW - short term memory

U2 - 10.3233/JAD-150863

DO - 10.3233/JAD-150863

M3 - Article

VL - 50

SP - 353

EP - 357

JO - Journal of Alzheimer's Disease

JF - Journal of Alzheimer's Disease

SN - 1387-2877

IS - 2

ER -