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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
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...
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...
Dementia01:30

Dementia

Dementia is a collective term for cognitive disorders primarily affecting memory, thinking, and reasoning. It is not a specific disease but a syndrome, with Alzheimer's disease being the most common cause, accounting for approximately 60-80% of cases. Other types include vascular dementia, Lewy body dementia, and frontotemporal dementia. Dementia affects millions worldwide, particularly older adults, though it is not a normal part of aging.
The progression of dementia is generally gradual.
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...

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

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Published on: January 9, 2020

Genetics of dementia.

Clement T Loy1, Peter R Schofield2, Anne M Turner3

  • 1School of Public Health, University of Sydney, Sydney, NSW, Australia; Neuroscience Research Australia, Randwick, NSW, Australia; Huntington Disease Service, Westmead Hospital, Westmead, NSW, Australia.

Lancet (London, England)
|August 10, 2013
PubMed
Summary

Genetic testing can identify dementia risk in families with a history of the disease. This review covers genetic testing for Alzheimer's and frontotemporal dementia, aiding in risk assessment and counseling.

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Area of Science:

  • Neurogenetics
  • Geriatric Medicine
  • Medical Genetics

Background:

  • 25% of individuals over 55 have a family history of dementia.
  • Most dementia risk stems from complex genetic interactions, increasing lifetime risk to 20% from 10% in the general population.
  • A small subset of families exhibits autosomal dominant early-onset dementia due to single gene mutations.

Purpose of the Study:

  • To review the evidence and approach for genetic testing in familial dementia.
  • To focus on Alzheimer's disease (APP, PSEN1, PSEN2) and frontotemporal dementia (MAPT, GRN, C9ORF72) genetic testing.
  • To discuss practical aspects of genetic counseling for these conditions.

Main Methods:

  • Review of scientific literature on genetic testing for dementia.
  • Analysis of genetic factors in Alzheimer's and frontotemporal dementia.
  • Discussion of genetic counseling principles and practices.

Main Results:

  • Familial dementia risk is elevated, with complex genetics playing a role in most cases.
  • Autosomal dominant inheritance confers a >95% lifetime dementia risk.
  • Specific genes (APP, PSEN1, PSEN2 for AD; MAPT, GRN, C9ORF72 for FTD) are implicated.

Conclusions:

  • Genetic testing offers valuable insights into dementia risk for affected families.
  • Understanding genetic contributions is crucial for diagnosis and management.
  • Genetic counseling is essential for navigating the implications of genetic testing.