Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier

被引:6
作者
Lombardi, Gemma [1 ]
Berti, Valentina [2 ]
Tedde, Andrea [1 ]
Bagnoli, Silvia [1 ]
Piaceri, Irene [1 ]
Polito, Cristina [2 ]
Lucidi, Giulia [1 ,3 ]
Ferrari, Camilla [3 ]
Ginestroni, Andrea [4 ]
Moretti, Marco [4 ]
Pupi, Alberto [2 ]
Nacmias, Benedetta [1 ]
Sorbi, Sandro [1 ,3 ]
机构
[1] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth, Viale Pieraccini 6, I-50139 Florence, Italy
[2] Univ Florence, Nucl Med Unit, Dept Biomed Expt & Clin Sci Mario Serio, Florence, Italy
[3] IRCCS Don Gnocchi, Florence, Italy
[4] AOU Careggi, Neuroradiol Unit, Florence, Italy
关键词
APP Ala713Thr; familial Alzheimer's disease; florbetapir PET; frontotemporal dementia; ITALIAN POPULATION-SAMPLE; ALZHEIMERS-DISEASE; A713T MUTATION; FRONTOTEMPORAL DEMENTIA; DIAGNOSTIC-CRITERIA; AMYLOID-BETA; GENE; BIOMARKERS; ATROPHY; VARIANT;
D O I
10.3233/JAD-161170
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy. We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [F-18] Florbetapir PET uptake and A beta(1-42) cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.
引用
收藏
页码:697 / 703
页数:7
相关论文
共 39 条
  • [1] The Frontal Assessment Battery (FAB): Normative values in an Italian population sample
    Appollonio, I
    Leone, M
    Isella, V
    Piamarta, F
    Consoli, T
    Villa, ML
    Forapani, E
    Russo, A
    Nichelli, P
    [J]. NEUROLOGICAL SCIENCES, 2005, 26 (02) : 108 - 116
  • [2] Familial Alzheimer disease associated with A713T mutation in APP
    Armstrong, J
    Boada, M
    Rey, MJ
    Vidal, N
    Ferrer, I
    [J]. NEUROSCIENCE LETTERS, 2004, 370 (2-3) : 241 - 243
  • [3] AβPP A713T Mutation in Late Onset Alzheimer's Disease with Cerebrovascular Lesions
    Bernardi, Livia
    Geracitano, Silvana
    Colao, Rosanna
    Puccio, Gianfranco
    Gallo, Maura
    Anfossi, Maria
    Frangipane, Francesca
    Curcio, Sabrina A. M.
    Mirabelli, Maria
    Tomaino, Carmine
    Vasso, Franca
    Smirne, Nicoletta
    Maletta, Raffaele
    Bruni, Amalia C.
    [J]. JOURNAL OF ALZHEIMERS DISEASE, 2009, 17 (02) : 383 - 389
  • [4] Rey-Osterrieth complex figure: normative values in an Italian population sample
    Caffarra, P
    Vezzadini, G
    Dieci, F
    Zonato, F
    Venneri, A
    [J]. NEUROLOGICAL SCIENCES, 2002, 22 (06) : 443 - 447
  • [5] Caffarra P., 2002, Nuova Riv. Neurol, V12, P111
  • [6] Absence of Pittsburgh Compound B Detection of Cerebral Amyloid β in a Patient With Clinical, Cognitive, and Cerebrospinal Fluid Markers of Alzheimer Disease
    Cairns, Nigel J.
    Ikonomovic, Milos D.
    Benzinger, Tammie
    Storandt, Martha
    Fagan, Anne M.
    Shah, Aarti R.
    Reinwald, Lisa Taylor
    Carter, Deborah
    Felton, Angela
    Holtzman, David M.
    Mintun, Mark A.
    Klunk, William E.
    Morris, John C.
    [J]. ARCHIVES OF NEUROLOGY, 2009, 66 (12) : 1557 - 1562
  • [7] The mental deterioration battery: Normative data, diagnostic reliability and qualitative analyses of cognitive impairment
    Carlesimo, GA
    Caltagirone, C
    Gainotti, G
    Fadda, L
    Gallassi, R
    Lorusso, S
    Marfia, G
    Marra, C
    Nocentini, U
    Parnetti, L
    [J]. EUROPEAN NEUROLOGY, 1996, 36 (06) : 378 - 384
  • [8] MORE MISSENSE IN AMYLOID GENE
    CARTER, DA
    DESMARAIS, E
    BELLIS, M
    CAMPION, D
    CLERGETDARPOUX, F
    BRICE, A
    AGID, Y
    JAILLARDSERRADT, A
    MALLET, J
    [J]. NATURE GENETICS, 1992, 2 (04) : 255 - 256
  • [9] Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease
    Catania, Marcella
    Di Fede, Giuseppe
    Tonoli, Elisa
    Benussi, Luisa
    Pasquali, Claudio
    Giaccone, Giorgio
    Maderna, Emanuela
    Ghidoni, Roberta
    Tagliavini, Fabrizio
    [J]. JOURNAL OF ALZHEIMERS DISEASE, 2015, 47 (04) : 877 - 881
  • [10] Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family
    Conidi, Maria E.
    Bernardi, Livia
    Puccio, Gianfranco
    Smirne, Nicoletta
    Muraca, Maria G.
    Curcio, Sabrina A. M.
    Colao, Rosanna
    Piscopo, Paola
    Gallo, Maura
    Anfossi, Maria
    Frangipane, Francesca
    Clodomiro, Alessandra
    Mirabelli, Maria
    Vasso, Franca
    Cupidi, Chiara
    Torchia, Giusi
    Di Lorenzo, Raffaele
    Mandich, Paola
    Confaloni, Annamaria
    Maletta, Raffaele G.
    Bruni, Amalia C.
    [J]. NEUROLOGY, 2015, 84 (22) : 2266 - 2273