Familial Alzheimer's disease (FAD) is a dominantly inherited condition that may present with an early onset, and myoclonus occurs frequently in the course of the disease. We report clinical and neuropathologic data on 2 large Belgian families with FAD in which we obtained 17 autopsies of the CNS. In family A, each of 11 autopsies had the typical neuropathologic features of Alzheimer's disease (AD), and there were a few cerebellar plaques in the molecular layer. In family B, in addition to the typical characteristics of AD in 6 autopsies, there were numerous amyloid plaques in the cortical cerebellar layers. In both families, we immunostained the amyloid deposits for the A4 protein, and they were negative for prion-associated protein immunoreactivity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/wnl.41.1.62 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-Term Impact of Using Mobile Phones and Playing Computer Games on the Brain Structure and the Risk of Neurodegenerative Diseases: Large Population-Based Study.
J Med Internet Res
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Despite the increasing popularity of electronic devices, the longitudinal effects of daily prolonged electronic device usage on brain health and the aging process remain unclear.
Objective: The aim of this study was to investigate the impact of the daily use of mobile phones/computers on the brain structure and the risk of neurodegenerative diseases.
Methods: We used data from the UK Biobank, a longitudinal population-based cohort study, to analyze the impact of mobile phone use duration, weekly usage time, and playing computer games on the future brain structure and the future risk of various neurodegenerative diseases, including all-cause dementia (ACD), Alzheimer disease (AD), vascular dementia (VD), all-cause parkinsonism (ACP), and Parkinson disease (PD).
Convening Hispanic/Latino Caregiving Advisors for Inclusive Research in Dementia Palliative Care.
J Palliat Med
January 2025
Division of Geriatric Medicine, Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA.
Dementia clinical trials often fail to include diverse and historically minoritized groups. We sought to adapt the Alzheimer's Disease and Related Dementias-Palliative Care (ADRD-PC) clinical trial to improve enrollment and address the cultural needs of people with late-stage ADRD who identify as Hispanic or Latino and their family caregivers. Bilingual, bicultural research team members adapted study materials and processes using the Cultural Adaptation Process Model.
View Article and Find Full Text PDFPrion Protein Endoproteolysis: Cleavage Sites, Mechanisms and Connections to Prion Disease.
J Neurochem
January 2025
Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, Canada.
Highly abundant in neurons, the cellular prion protein (PrP) is an obligatory precursor to the disease-associated misfolded isoform denoted PrP that accumulates in the rare neurodegenerative disorders referred to either as transmissible spongiform encephalopathies (TSEs) or as prion diseases. The ability of PrP to serve as a substrate for this template-mediated conversion process depends on several criteria but importantly includes the presence or absence of certain endoproteolytic events performed at the cell surface or in acidic endolysosomal compartments. The major endoproteolytic events affecting PrP are referred to as α- and β-cleavages, and in this review we outline the sites within PrP at which the cleavages occur, the mechanisms potentially responsible and their relevance to pathology.
View Article and Find Full Text PDFPre-treatment subjective sleep quality as a predictive biomarker of tDCS effects in preclinical Alzheimer's disease patients: Secondary analysis of a randomised clinical trial.
PLoS One
January 2025
Department of Psychiatry, The Chinese University of Hong Kong, Sha Tin, Hong Kong SAR, China.
Background: Despite transcranial direct current stimulation (tDCS) has demonstrated encouraging potential for modulating the circadian rhythm, little is known about how well and sustainably tDCS might improve the subjective sleep quality in older adults. This study sought to determine how tDCS affected sleep quality and cognition, as well as how well pre-treatment sleep quality predicted tDCS effects on domain-specific cognitive functions in patients with mild neurocognitive disorder due to Alzheimer's disease (NCD-AD).
Methods: This clinical trial aimed to compare the effectiveness of tDCS and cognitive training in mild NCD-AD patients (n = 201).
Suppressing APOE4-induced neural pathologies by targeting the VHL-HIF axis.
Proc Natl Acad Sci U S A
February 2025
Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94158.
The ε4 variant of human apolipoprotein E () is a key genetic risk factor for neurodegeneration in Alzheimer's disease and elevated all-cause mortality in humans. Understanding the factors and mechanisms that can mitigate the harmful effects of has significant implications. In this study, we find that inactivating the VHL-1 (Von Hippel-Lindau) protein can suppress mortality, neural and behavioral pathologies caused by transgenic human in .
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!