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 [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.
Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier / Lombardi, G., Berti, V., Tedde, A., Bagnoli, S., Piaceri, I., Polito, C., Lucidi, G., Ferrari, C., Ginestroni, A., Moretti, M., Pupi, A., Nacmias, B., Sorbi, S.. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - ELETTRONICO. - 57:(2017), pp. 697-703. [10.3233/JAD-161170]
Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier
LOMBARDI, GEMMA;BERTI, VALENTINA;TEDDE, ANDREA;BAGNOLI, SILVIA;PIACERI, IRENE;POLITO, CRISTINA;LUCIDI, GIULIA;FERRARI, CAMILLA;GINESTRONI, ANDREA;MORETTI, MARCO;PUPI, ALBERTO;NACMIAS, BENEDETTA;SORBI, SANDRO
2017
Abstract
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 [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.
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