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Related Concept Videos

Dementia01:30

Dementia

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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....
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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.
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Related Experiment Video

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Using Retinal Imaging to Study Dementia
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[DNA diagnostics in dementia].

C M Aalfs1, R Vervenne-van Spaendonk, Y A L Pijnenburg

  • 1VUmc, Amsterdam.

Nederlands Tijdschrift Voor Geneeskunde
|September 23, 2017
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances DNA diagnostics for dementia, identifying monogenic causes in 15% of cases. This genetic information offers clarity for patients and families regarding diagnosis and disease progression.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Next-generation sequencing (NGS) enables simultaneous examination of multiple genes, significantly expanding DNA diagnostic capabilities for dementia.
  • Recent advancements have increased the potential for accurate genetic diagnosis in individuals with cognitive decline.

Purpose of the Study:

  • To evaluate the utility of DNA diagnostics in identifying monogenic causes of dementia.
  • To determine the frequency of monogenic dementia in a clinical setting.

Main Methods:

  • Utilized next-generation sequencing for comprehensive genetic analysis.
  • Applied DNA diagnostics in patient cohorts diagnosed with Alzheimer's disease (pre-60 years), frontotemporal dementia, and those with a positive family history.

Main Results:

  • DNA diagnostics identified a clear monogenic cause in 15% of patients evaluated at the Alzheimer center of VUmc, Amsterdam.
  • The study highlights the diagnostic yield of genetic testing in specific dementia populations.

Conclusions:

  • DNA diagnostics provides crucial clarity on diagnosis and prognosis for dementia patients and their families, despite minimal current therapeutic implications.
  • Genetic findings facilitate informed decisions regarding presymptomatic testing for at-risk family members.