Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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 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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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,...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Signage Interventions for Stair Climbing at Work: More than 700,000 Reasons for Caution.

International journal of environmental research and public health·2019
Same author

Disintegrative syndrome in young adults.

Irish journal of psychological medicine·2018
Same author

Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

Acta neuropathologica·2018
Same author

The effect of walking on risk factors for cardiovascular disease: an updated systematic review and meta-analysis of randomised control trials.

Preventive medicine·2015
Same author

Predicting out-of-office blood pressure level using repeated measurements in the clinic: an observational cohort study.

Journal of hypertension·2014
Same author

Maternal plasma and amniotic fluid cytokines in monochorionic, diamniotic twin pregnancies complicated by twin-to-twin transfusion syndrome.

Fetal diagnosis and therapy·2014

Related Experiment Video

Updated: Jul 25, 2026

Using Retinal Imaging to Study Dementia
09:17

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Down's syndrome, dementia and macrocytosis.

Vee Prasher1, Jay Viswanathan2, Roger Holder3

  • 1Monyhull Hospital,Monyhull Hall Road,Kings Norton,Birmingham B30 3QQ,England.

Irish Journal of Psychological Medicine
|November 17, 2018
PubMed
Summary

Raised red blood cell size (macrocytosis) may help diagnose Alzheimer's disease (AD) in individuals with Down syndrome (DS). Further elevated mean corpuscular volume (MCV) correlated with AD, suggesting MCV as a potential diagnostic aid.

More Related Videos

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Related Experiment Videos

Last Updated: Jul 25, 2026

Using Retinal Imaging to Study Dementia
09:17

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Alzheimer's disease (AD) lacks definitive peripheral biomarkers.
  • Down syndrome (DS) individuals have a high prevalence of AD pathology.
  • Macrocytosis, indicated by elevated mean corpuscular volume (MCV), is common in DS.

Purpose of the Study:

  • To investigate macrocytosis as a potential peripheral biomarker for AD in adults with DS.
  • To explore the association between elevated MCV and clinically diagnosed AD in the DS population.

Main Methods:

  • A longitudinal study over five years.
  • Involved 150 adults with Down syndrome.
  • Measured mean corpuscular volume (MCV) levels.

Main Results:

  • A statistically significant association was found between a further elevated MCV and clinically diagnosed AD in adults with DS.
  • Higher MCV levels were linked to AD diagnosis within the DS cohort.

Conclusions:

  • Further research into macrocytosis in DS could elucidate AD's biological mechanisms.
  • MCV measurement is recommended for DS individuals with dementia.
  • Significantly elevated MCV (males >97fl, females >99fl) may aid clinical diagnosis but is not a standalone diagnostic test for AD in DS.