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Introduction: Virtually all adults with Down syndrome (DS) will accumulate the neuropathologies associated with Alzheimer's disease (AD) by age 40, with the majority having a clinical dementia diagnosis by their middle 50s.
Methods: This paper complements a 2020 publication describing the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) methodology by highlighting protocol changes since initial funding in 2015. It describes available clinical, neuropsychological, neuroimaging, and biofluid data and bio-specimen repository. Ten years of accomplishments are summarized.
Results: Over 500 adults with DS and 59 sibling controls have been enrolled since 2015 with nearly 800 follow-up visits. More than 900 magnetic resonance imaging (MRI), 800 amyloid positron emission tomography (PET), and 600 tau PET scans have been conducted; multiple omics data have been generated using over 1100 blood and 100 cerebrospinal fluid (CSF) samples.
Discussion: ABC-DS is the largest U.S.-based, multi-site (including the United Kingdom and Puerto Rico), longitudinal biomarker initiative to target adults with DS at risk for AD.
Highlights: The Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) is entering its 10th year. Over 500 adults with Down syndrome (DS) and 59 sibling controls have been enrolled. More than 900 magnetic resonance imaging (MRI), 800 amyloid positron emission tomography (PET), and 600 tau PET scans have been conducted. Multiple omics data have been generated using over 1100 blood and 100 cerebrospinal fluid (CSF) samples. It is positioned to continue to make substantial contributions to the DS field.
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http://dx.doi.org/10.1002/alz.70294 | DOI Listing |
Parkinsonism Relat Disord
September 2025
Translational and Clinical Research Institute, Newcastle University, UK.
Introduction: Dysfunction of the glymphatic system is thought to lead to build up of toxic proteins including β-amyloid and α-synuclein, and thus may be involved in dementia with Lewy bodies (DLB) and Alzheimer's disease (AD). The Diffusion Tensor Image Analysis Along the Perivascular Space (DTI-ALPS) index has been proposed as a marker of glymphatic function.
Aims: To investigate DTI-ALPS in mild cognitive impairment (MCI) and dementia, and determine its relationship with cognitive decline, and biomarkers of neurodegeneration.
Neurology
October 2025
Alzheimer's Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic de Barcelona, Fundació Recerca Clínic Barcelona-IDIBAPS, Spain.
Background And Objectives: α-Synuclein seed amplification assays (αSAAs) can improve the diagnosis of synucleinopathies and detect α-synuclein (αSyn) copathology in vivo in clinical practice. We aimed to evaluate the diagnostic performance of αSAA for detecting αSyn in CSF for diagnosing dementia with Lewy bodies (DLB) in a clinical cohort of cognitively impaired individuals. We explored how the coexistence of Alzheimer disease (AD) and αSyn pathology influences biomarker levels and clinical profiles.
View Article and Find Full Text PDFJ Neurol
September 2025
Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Background: The "Systematic Screening of Handwriting Difficulties in Parkinson's Disease" (SOS) test is the only tool specifically designed to evaluate handwriting in people with Parkinson's Disease (pwPD). It is language specific.
Objective: To assess the construct validity, intrarater and interrater reliability of the Italian version of the SOS test.
ACS Sens
September 2025
Department of Pharmacy, The People's Hospital of Guangxi Zhuang Autonomous Region & Guangxi Academy of Medical Sciences, Nanning, Guangxi 530021, China.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder primarily characterized by cognitive decline and behavioral impairments, typically manifesting in the elderly and presenile population. With the rapid global aging trend, early diagnosis and treatment of AD have become increasingly urgent research priorities. The primary pathological features of AD include excessive accumulation of β-amyloid (Aβ) plaques, the formation of neurofibrillary tangles, and neuronal loss.
View Article and Find Full Text PDFEur J Neurol
September 2025
Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Background: Frontotemporal dementia (FTD) encompasses diverse clinical phenotypes, primarily characterized by behavioral and/or language dysfunction. A newly characterized variant, semantic behavioral variant FTD (sbvFTD), exhibits predominant right temporal atrophy with features bridging behavioral variant FTD (bvFTD) and semantic variant primary progressive aphasia (svPPA). This study investigates the longitudinal structural MRI correlates of these FTD variants, focusing on cortical and subcortical structural damage to aid differential diagnosis and prognosis.
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