Alzheimer's Disease Genetic and Pathological Heterogeneity

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15 Questions

What is the primary cause of the formation of plaques in the brain in Alzheimer's disease?

Abnormal accumulation of longer forms of Aβ

What is the role of phosphorylation of tau in Alzheimer's disease?

Causing detachment from microtubules and accumulation into insoluble neurofibrillary tangles

How is Alzheimer's disease diagnosis made in living humans nowadays?

Detection and quantification of Aβ, tau, and neurodegeneration biomarkers

What was revealed by the study mentioned in the text regarding individuals diagnosed with Alzheimer's disease?

Heterogeneity in visualizations and mixed neuropathological phenotypes

What is the range of age at death observed in the participants in the study mentioned in the text?

65 to 108 years

Which of the following is described as a biological domain linked to the development of Alzheimer's disease?

RNA splicing

What is the primary implication of genetic risk factors for Alzheimer's disease?

Modification of disease progression only

Disruption of which biological domain can have a direct impact on synapse loss and/or dementia?

Immune function

What is the influence of different combinations of risk factors on the biological domains involved in the pathogenesis of Alzheimer's disease?

Significant influence

What is thought to interact and differentially affect sets of biological domains related to Alzheimer's disease?

Genetic and environmental factors

What is a potential advantage of using iPSC monocultures in studying Alzheimer's disease?

Quantifying the direct, cell-autonomous effects of genetically encoded influences

What is a limitation of the in vitro human systems mentioned in the passage?

They do not allow the assessment of behavioural and cognitive changes

Which technology was used to generate mouse models carrying LOAD-associated variants in specific genes?

CRISPR/Cas9 and the Cre/lox system

What is the primary purpose of developing mouse models carrying novel combinations of genetic variants of LOAD risk?

Studying the contribution of variations in specific genes to the function and dysfunction of biological domains

What insight has been provided by the progeny of humanised APOE surrogate mouse lines crossed with humanised MAPT and APP/PSEN1 models?

The role of APOE in AD pathogenesis

Explore the genetic and pathological heterogeneity in Alzheimer's disease with this quiz. Test your knowledge on the diverse manifestations and factors contributing to the variability of the disease.

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