The probabilistic model of Alzheimer disease: the amyloid hypothesis revised

GB Frisoni, D Altomare, DR Thal, F Ribaldi… - Nature Reviews …, 2022 - nature.com
The current conceptualization of Alzheimer disease (AD) is driven by the amyloid
hypothesis, in which a deterministic chain of events leads from amyloid deposition and then …

Clinical diagnosis of Alzheimer's disease: recommendations of the International Working Group

B Dubois, N Villain, GB Frisoni, GD Rabinovici… - The Lancet …, 2021 - thelancet.com
Summary In 2018, the US National Institute on Aging and the Alzheimer's Association
proposed a purely biological definition of Alzheimer's disease that relies on biomarkers …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

From basic science to clinical application of polygenic risk scores: a primer

NR Wray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Alzheimer's disease

JAS Lopez, HM González, GC Léger - Handbook of clinical neurology, 2019 - Elsevier
Alzheimer's disease (AD) dementia refers to a particular onset and course of cognitive and
functional decline associated with age together with a particular neuropathology. It was first …

The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020 - nature.com
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk

AG Efthymiou, AM Goate - Molecular neurodegeneration, 2017 - Springer
Alzheimer's disease (AD) is a highly heritable complex disease with no current effective
prevention or treatment. The majority of drugs developed for AD focus on the amyloid …