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Genetic Lingo01:11

Genetic Lingo

Overview
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...

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Related Experiment Video

Updated: Jun 21, 2026

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke
09:45

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke

Published on: March 22, 2016

[Dominant forms of Alzheimer's disease: from genotype to phenotype].

D Hannequin1, D Campion

  • 1INSERM EPI 9906, IFRMP et Département de Neurologie, Faculté de Médecine et de Pharmacie, Rouen, Cedex, France.

Revue Neurologique
|June 9, 2001
PubMed
Summary

Mutations in presenilin (PSs) and amyloid precursor protein (APP) genes cause autosomal dominant Alzheimer's disease, leading to elevated Ab42 peptide levels. These genetic changes influence disease onset and pathology, impacting brain function.

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Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Related Experiment Videos

Last Updated: Jun 21, 2026

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke
09:45

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Published on: March 22, 2016

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Area of Science:

  • Genetics and Neurology
  • Molecular Biology
  • Neurodegenerative Diseases

Context:

  • Autosomal dominant Alzheimer's disease (ADAD) presents unique genetic and phenotypic profiles.
  • Presenilin (PSs) and amyloid precursor protein (APP) gene mutations are key drivers of early-onset familial ADAD.
  • Understanding genotype-phenotype correlations is crucial for ADAD research.

Purpose:

  • To review the relationship between genotype and phenotype in autosomal dominant Alzheimer's disease.
  • To explore the impact of PSs and APP gene mutations on disease onset and progression.
  • To elucidate the role of amyloid-beta 42 (Ab42) peptide in ADAD pathogenesis.

Summary:

  • This review examines clinical characteristics of ADAD, focusing on early onset and variability linked to PSs and APP mutations.
  • Evidence suggests these mutations primarily elevate the Ab42 peptide.
  • Transgenic animal models with APP or PSs mutations indicate intracellular Ab42 deposits contribute to ADAD pathology.

Impact:

  • Provides insights into the genetic basis of early-onset Alzheimer's disease.
  • Highlights the central role of Ab42 peptide in ADAD pathogenesis.
  • Informs potential therapeutic strategies targeting PSs and APP pathways.