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Brain F-Florbetapir PET/CT Findings in an Early-onset Alzheimer Disease Patient Carrying Presenilin-1 G378E Mutation

Alzheimer Disease and Associated Disorders, ISSN: 0893-0341, Vol: 36, Issue: 4, Page: 347-349
2022
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Findings from Department of Nuclear Medicine Provide New Insights into Alzheimer Disease (Brain F-18-florbetapir Pet/ct Findings In an Early-onset Alzheimer Disease Patient Carrying Presenilin-1 G378e Mutation)

2023 MAR 15 (NewsRx) -- By a News Reporter-Staff News Editor at Medical Imaging Daily News -- A new study on Neurodegenerative Diseases and Conditions

Article Description

Positron emission tomography (PET) with F-Fluorodeoxyglucose (F-FDG) plays an outstanding role in the diagnostic work-up of dementia. Amyloid PET imaging is a complementary imaging technique for the early detection of Alzheimer disease (AD). β-amyloid precursor protein (APP), Presenilin-1 (PSEN1) and Presenilin-2 (PSEN2) are the 3 main causative genes responsible for autosomal dominant early-onset Alzheimer disease (EOAD). This is the first report of F-Florbetapir amyloid imaging findings in a 35-year-old male patient with EOAD carrying the G378E mutation in PSEN1 gene. Brain computed tomography (CT) and magnetic resonance imaging scans showed remarkable cerebral atrophy with dilatation of the cerebrospinal fluid spaces; furthermore, a F-Florbetapir PET/CT scan demonstrated also widespread remarkable accumulation of the amyloid tracer in the cerebral cortex, with reduction of the normal contrast between white and gray matter and flattening of the external cortical margins. Furthermore, PET/CT showed intense F-florbetapir uptake in the striatum and in the thalamus bilaterally. Our case supports the usefulness of amyloid PET imaging in the diagnostic work-up of EOAD.

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