Brain 18F-Florbetapir PET/CT Findings in an Early-onset Alzheimer Disease Patient Carrying Presenilin-1 G378E Mutation

Positron emission tomography (PET) with F-18-Fluorodeoxyglucose (F-18-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). beta-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-18-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-18-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-18-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.

Automated summary

Positron emission tomography (PET) with F-18-Fluorodeoxyglucose (F-18-FDG) is essential for diagnosing dementia, and amyloid PET imaging is helpful for early detection of Alzheimer disease (AD). This study presents the first report of F-18-Florbetapir amyloid imaging in a 35-year-old male patient with early-onset Alzheimer disease (EOAD). The findings support the usefulness of amyloid PET imaging in diagnosing EOAD.