Vascular aspects of cognitive impairment and dementia

M Wiesmann, AJ Kiliaan… - Journal of Cerebral …, 2013 - journals.sagepub.com
Hypertension and stroke are highly prevalent risk factors for cognitive impairment and
dementia. Alzheimer's disease (AD) and vascular dementia (VaD) are the most common …

APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets

S Sirisi, É Sánchez-Aced, O Belbin, A Lleó - Alzheimer's Research & …, 2024 - Springer
The Amyloid precursor protein (APP) is a transmembrane glycoprotein from which amyloid-β
(Aβ) peptides are generated after proteolytic cleavage. Aβ peptides are the main constituent …

Seizures in dominantly inherited Alzheimer disease

A Zarea, C Charbonnier, A Rovelet-Lecrux, G Nicolas… - Neurology, 2016 - AAN Enterprises
Objective: To assess seizure frequency in a large French cohort of autosomal dominant
early-onset Alzheimer disease (ADEOAD) and to determine possible correlations with …

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers

D Wallon, S Rousseau… - Journal of …, 2012 - journals.sagepub.com
We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD)
families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of …

APP as a protective factor in acute neuronal insults

D Hefter, A Draguhn - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Despite its key role in the molecular pathology of Alzheimer's disease (AD), the
physiological function of amyloid precursor protein (APP) is unknown. Increasing evidence …

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

A Rovelet-Lecrux, C Charbonnier, D Wallon… - Molecular …, 2015 - nature.com
We hypothesized that de novo variants (DNV) might participate in the genetic determinism of
sporadic early-onset Alzheimer disease (EOAD, onset before 65 years). We investigated 14 …

Early-onset cerebral amyloid angiopathy and Alzheimer disease related to an APP locus triplication

L Grangeon, K Cassinari, S Rousseau… - Neurology …, 2021 - AAN Enterprises
Background and Objective To report a triplication of the amyloid-β precursor protein (APP)
locus along with relative messenger RNA (mRNA) expression in a family with autosomal …

[HTML][HTML] Regulation of PPARα by APP in Alzheimer disease affects the pharmacological modulation of synaptic activity

F Sáez-Orellana, T Leroy, F Ribeiro, A Kreis, K Leroy… - JCI insight, 2021 - ncbi.nlm.nih.gov
Among genetic susceptibility loci associated with late-onset Alzheimer disease (LOAD),
genetic polymorphisms identified in genes encoding lipid carriers led to the hypothesis that …

Phenotype and imaging features associated with APP duplications

L Grangeon, C Charbonnier, A Zarea… - Alzheimer's Research & …, 2023 - Springer
Background APP duplication is a rare genetic cause of Alzheimer disease and cerebral
amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications …

Lessons from genetic studies in Alzheimer disease

G Nicolas - Revue Neurologique, 2024 - Elsevier
Research on Alzheimer disease (AD) genetics has provided critical advances to the
knowledge of AD pathophysiological mechanisms. The etiology of AD can be divided into …