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Related Concept Videos

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

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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...
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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...
Alzheimer's Disease: Overview01:26

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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...
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Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Related Experiment Video

Updated: Jun 27, 2026

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke
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[Alzheimer disease: autosomal dominant forms].

L Guyant-Maréchal1, D Campion, D Hannequin

  • 1Service de neurologie, CHU de Rouen, 1, rue de Germont, 76031 Rouen cedex, France. lucie.guyant-marechal@chu-rouen.fr

Revue Neurologique
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

Autosomal dominant Alzheimer disease (AD), often caused by PSEN1 or APP mutations, typically begins before age 60. This review explores diverse clinical presentations and the underlying amyloid cascade.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Context:

  • Focuses on autosomal dominant Alzheimer disease (AD), a rare genetic subtype.
  • Highlights mutations in PSEN1, APP, and PSEN2 genes as primary causes.
  • Emphasizes the characteristic early age of onset, typically before 60.

Purpose:

  • To review the genetic underpinnings of autosomal dominant AD.
  • To describe the expanded spectrum of clinical and neuropathological phenotypes.
  • To elucidate the impact of these mutations on amyloid-beta processing and the amyloid cascade.

Summary:

  • Autosomal dominant AD results from specific gene mutations (PSEN1, APP, PSEN2), leading to early-onset disease.
  • Uncommon phenotypes include intracerebral hemorrhages, spastic paraparesis, Lewy body dementia, and cerebellar ataxia.
  • Mutations disrupt amyloid-beta processing, confirming the central role of the amyloid cascade in AD pathogenesis.

Impact:

  • Expands the understanding of Alzheimer disease heterogeneity.
  • Identifies novel clinical presentations associated with genetic AD.
  • Reinforces the amyloid cascade hypothesis as a therapeutic target.