New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Early-onset Alzheimer disease and its variants

MF Mendez - CONTINUUM: Lifelong Learning in Neurology, 2019 - journals.lww.com
PURPOSE OF REVIEW Early-onset Alzheimer disease (AD) is defined as having an age of
onset younger than 65 years. While early-onset AD is often overshadowed by the more …

Early-onset Alzheimer disease

MF Mendez - Neurologic clinics, 2017 - neurologic.theclinics.com
Alzheimer disease (AD) originally meant a disorder of early-onset (EOAD;< 65 years of age)
and did not include older patients with “senile dementia.” In fact, the first patient reported …

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

HM Lanoiselée, G Nicolas, D Wallon… - PLoS …, 2017 - journals.plos.org
Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

I De Rojas, S Moreno-Grau, N Tesi… - Nature …, 2021 - nature.com
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and
together with polygenetic risk stratification can contribute towards planning of feasible and …

Biomarkers for Alzheimer's disease diagnosis

V Mantzavinos, A Alexiou - Current Alzheimer Research, 2017 - ingentaconnect.com
Objective: The dramatic increase in the population with dementia expected in the next
decades is accompanied by the establishment of novel and innovated methods that will offer …

Clearance of cerebral Aβ in Alzheimer's disease: reassessing the role of microglia and monocytes

L Zuroff, D Daley, KL Black… - Cellular and Molecular …, 2017 - Springer
Deficiency in cerebral amyloid β-protein (Aβ) clearance is implicated in the pathogenesis of
the common late-onset forms of Alzheimer's disease (AD). Accumulation of misfolded Aβ in …

Genetics, functions, and clinical impact of presenilin-1 (PSEN1) gene

J Bagaria, E Bagyinszky, SSA An - International Journal of Molecular …, 2022 - mdpi.com
Presenilin-1 (PSEN1) has been verified as an important causative factor for early onset
Alzheimer's disease (EOAD). PSEN1 is a part of γ-secretase, and in addition to amyloid …

APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines

X **ao, H Liu, X Liu, W Zhang, S Zhang… - Frontiers in aging …, 2021 - frontiersin.org
The strategies of classifying APP, PSEN1, and PSEN2 variants varied substantially in the
previous studies. We aimed to re-evaluate these variants systematically according to the …

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

C Bellenguez, C Charbonnier, B Grenier-Boley… - Neurobiology of …, 2017 - Elsevier
We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer
disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France …