Alzheimer's disease associated with Down syndrome: a genetic form of dementia

J Fortea, SH Zaman, S Hartley, MS Rafii… - The Lancet …, 2021 - thelancet.com
Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's
disease and are at very high risk of developing early-onset dementia, which is now the …

Neuronal pentraxins as biomarkers of synaptic activity: from physiological functions to pathological changes in neurodegeneration

N Gómez de San José, F Massa… - Journal of Neural …, 2022 - Springer
The diagnosis of neurodegenerative disorders is often challenging due to the lack of
diagnostic tools, comorbidities and shared pathological manifestations. Synaptic dysfunction …

The neuronal pentraxin Nptx2 regulates complement activity and restrains microglia-mediated synapse loss in neurodegeneration

J Zhou, SD Wade, D Graykowski, MF Xiao… - Science translational …, 2023 - science.org
Complement overactivation mediates microglial synapse elimination in neurological
diseases such as Alzheimer's disease (AD) and frontotemporal dementia (FTD), but how …

USP25 inhibition ameliorates Alzheimer's pathology through the regulation of APP processing and Aβ generation

Q Zheng, B Song, G Li, F Cai, M Wu… - The Journal of …, 2022 - Am Soc Clin Investig
Down syndrome (DS), or trisomy 21, is one of the critical risk factors for early-onset
Alzheimer's disease (AD), implicating key roles for chromosome 21–encoded genes in the …

Monitoring synaptic pathology in Alzheimer's disease through fluid and PET imaging biomarkers: a comprehensive review and future perspectives

S Lista, A Santos-Lozano, E Emanuele… - Molecular …, 2024 - nature.com
Alzheimer's disease (AD) is currently constrained by limited clinical treatment options. The
initial pathophysiological event, which can be traced back to decades before the clinical …

Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome

M Carmona-Iragui, A O'Connor, J Llibre-Guerra… - …, 2024 - thelancet.com
Autosomal dominant Alzheimer's disease (ADAD) and Down syndrome (DS) constitute
genetic forms of Alzheimer's disease (AD). The study of these forms has been crucial in …

Pathologically decreased CSF levels of synaptic marker NPTX2 in DLB are correlated with levels of alpha-synuclein and VGF

WA Boiten, I van Steenoven, MF Xiao, PF Worley… - Cells, 2020 - mdpi.com
Background: Dementia with Lewy bodies (DLB) is a neurodegenerative disease where
synaptic loss and reduced synaptic integrity are important neuropathological substrates …

Blood biomarkers for Alzheimer's disease in Down syndrome

L Montoliu-Gaya, A Strydom, K Blennow… - Journal of Clinical …, 2021 - mdpi.com
Epidemiological evidence suggests that by the age of 40 years, all individuals with Down
syndrome (DS) have Alzheimer's disease (AD) neuropathology. Clinical diagnosis of …

Reduced synaptic proteins and SNARE complexes in Down syndrome with Alzheimer's disease and the Dp16 mouse Down syndrome model: Impact of APP gene …

XQ Chen, X Zuo, A Becker, E Head… - Alzheimer's & …, 2023 - Wiley Online Library
Introduction Synaptic failure, a hallmark of Alzheimer's disease (AD), is correlated with
reduced levels of synaptic proteins. Though people with Down syndrome (DS) are at …

Cerebrospinal fluid NPTX2 changes and relationship with regional brain metabolism metrics across mild cognitive impairment due to Alzheimer's disease

F Massa, C Martinuzzo, N Gómez de San José… - Journal of …, 2024 - Springer
Abstract Background Neuronal pentraxin-2 (NPTX2), crucial for synaptic functioning,
declines in cerebrospinal fluid (CSF) as cognition deteriorates. The variations of CSF NPTX2 …