Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series

Purpose of the reportAdults with Down Syndrome (DS) have a substantially increased risk for Alzheimer’s disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-...

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Main Authors: Olivia Wagemann, Matthias Brendel, Nicolai Franzmeier, Georg Nübling, Johannes Gnörich, Mirlind Zaganjori, Catharina Prix, Anna Stockbauer, Elisabeth Wlasich, Sandra V. Loosli, Katja Sandkühler, Lukas Frontzkowski, Günter Höglinger, Johannes Levin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Neuroscience
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Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2024.1505999/full
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author Olivia Wagemann
Olivia Wagemann
Matthias Brendel
Nicolai Franzmeier
Nicolai Franzmeier
Nicolai Franzmeier
Georg Nübling
Georg Nübling
Johannes Gnörich
Mirlind Zaganjori
Catharina Prix
Anna Stockbauer
Anna Stockbauer
Elisabeth Wlasich
Sandra V. Loosli
Sandra V. Loosli
Katja Sandkühler
Lukas Frontzkowski
Günter Höglinger
Günter Höglinger
Günter Höglinger
Johannes Levin
Johannes Levin
Johannes Levin
author_facet Olivia Wagemann
Olivia Wagemann
Matthias Brendel
Nicolai Franzmeier
Nicolai Franzmeier
Nicolai Franzmeier
Georg Nübling
Georg Nübling
Johannes Gnörich
Mirlind Zaganjori
Catharina Prix
Anna Stockbauer
Anna Stockbauer
Elisabeth Wlasich
Sandra V. Loosli
Sandra V. Loosli
Katja Sandkühler
Lukas Frontzkowski
Günter Höglinger
Günter Höglinger
Günter Höglinger
Johannes Levin
Johannes Levin
Johannes Levin
author_sort Olivia Wagemann
collection DOAJ
description Purpose of the reportAdults with Down Syndrome (DS) have a substantially increased risk for Alzheimer’s disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-AD research or clinical work-up, and second-generation tau tracers such as [18F]PI-2620 have not been thoroughly characterized in adults with DS. We aim at illustrating feasibility and potential diagnostic value of tau PET imaging with [18F]PI-2620 for the diagnosis of DS-AD.Materials and methodsFive adults with DS (40% female, aged 43–62) and cognitive decline underwent clinical assessments, neuropsychological testing, lumbar puncture and multimodal neuroimaging. All underwent [18F]PI-2620 tau PET. Visual read of tau PET scans was performed by three blinded raters, assessing increased tracer uptake in brain areas corresponding to the six Braak stage regions and basal ganglia.ResultsVisual read of tau burden revealed three tau-positive individuals which corresponded to their clinical decline while two cognitively stable individuals were rated as negative. Rating showed high inter-rater reliability for all Braak stages.ConclusionTau PET imaging is a feasible and important biomarker assessment in the differential diagnosis of cognitive decline in adults with DS at risk of developing AD.
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spelling doaj-art-ba2cfbe66a584ca7becb7f7afba05f4e2025-01-06T09:27:31ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2025-01-011810.3389/fnins.2024.15059991505999Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case seriesOlivia Wagemann0Olivia Wagemann1Matthias Brendel2Nicolai Franzmeier3Nicolai Franzmeier4Nicolai Franzmeier5Georg Nübling6Georg Nübling7Johannes Gnörich8Mirlind Zaganjori9Catharina Prix10Anna Stockbauer11Anna Stockbauer12Elisabeth Wlasich13Sandra V. Loosli14Sandra V. Loosli15Katja Sandkühler16Lukas Frontzkowski17Günter Höglinger18Günter Höglinger19Günter Höglinger20Johannes Levin21Johannes Levin22Johannes Levin23Department of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyGerman Center for Neurodegenerative Disease (DZNE), Munich, GermanyDepartment of Nuclear Medicine, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyInstitute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, GermanyDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal and Gothenburg, SwedenMunich Cluster for Systems Neurology (SyNergy), Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyGerman Center for Neurodegenerative Disease (DZNE), Munich, GermanyDepartment of Nuclear Medicine, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyDepartment of Nuclear Medicine, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyGerman Center for Neurodegenerative Disease (DZNE), Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyDepartment of Neurology, University Hospital Zurich, Zurich, SwitzerlandDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyInstitute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyGerman Center for Neurodegenerative Disease (DZNE), Munich, GermanyMunich Cluster for Systems Neurology (SyNergy), Munich, GermanyDepartment of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, GermanyGerman Center for Neurodegenerative Disease (DZNE), Munich, GermanyMunich Cluster for Systems Neurology (SyNergy), Munich, GermanyPurpose of the reportAdults with Down Syndrome (DS) have a substantially increased risk for Alzheimer’s disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-AD research or clinical work-up, and second-generation tau tracers such as [18F]PI-2620 have not been thoroughly characterized in adults with DS. We aim at illustrating feasibility and potential diagnostic value of tau PET imaging with [18F]PI-2620 for the diagnosis of DS-AD.Materials and methodsFive adults with DS (40% female, aged 43–62) and cognitive decline underwent clinical assessments, neuropsychological testing, lumbar puncture and multimodal neuroimaging. All underwent [18F]PI-2620 tau PET. Visual read of tau PET scans was performed by three blinded raters, assessing increased tracer uptake in brain areas corresponding to the six Braak stage regions and basal ganglia.ResultsVisual read of tau burden revealed three tau-positive individuals which corresponded to their clinical decline while two cognitively stable individuals were rated as negative. Rating showed high inter-rater reliability for all Braak stages.ConclusionTau PET imaging is a feasible and important biomarker assessment in the differential diagnosis of cognitive decline in adults with DS at risk of developing AD.https://www.frontiersin.org/articles/10.3389/fnins.2024.1505999/fulldown syndromeAlzheimertau PET18F-PI-2620case seriestrisomy 21
spellingShingle Olivia Wagemann
Olivia Wagemann
Matthias Brendel
Nicolai Franzmeier
Nicolai Franzmeier
Nicolai Franzmeier
Georg Nübling
Georg Nübling
Johannes Gnörich
Mirlind Zaganjori
Catharina Prix
Anna Stockbauer
Anna Stockbauer
Elisabeth Wlasich
Sandra V. Loosli
Sandra V. Loosli
Katja Sandkühler
Lukas Frontzkowski
Günter Höglinger
Günter Höglinger
Günter Höglinger
Johannes Levin
Johannes Levin
Johannes Levin
Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
Frontiers in Neuroscience
down syndrome
Alzheimer
tau PET
18F-PI-2620
case series
trisomy 21
title Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
title_full Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
title_fullStr Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
title_full_unstemmed Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
title_short Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series
title_sort feasibility and potential diagnostic value of 18f pi 2620 pet in patients with down syndrome and alzheimer s disease a case series
topic down syndrome
Alzheimer
tau PET
18F-PI-2620
case series
trisomy 21
url https://www.frontiersin.org/articles/10.3389/fnins.2024.1505999/full
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