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Updated: Jul 25, 2026

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.
Objective:
No definitive peripheral biological marker has yet been found to correlate with Alzheimer's disease (AD). This study investigated the role of macrocytosis as a marker which could significantly improve our understanding of AD in the Down's syndrome (DS) population.
Methods:
This study investigated the possible association between raised mean corpuscular volume (MCV) and AD in 150 adults with DS over a five year study period.
Results:
A raised MCV is common in the DS population. A statistically significant association between a further elevated MCV and clinically diagnosed AD in adults with DS was found.
Conclusions:
The findings suggest that further research into the association between macrocytosis and DS could improve our understanding of the underlying biological mechanisms of AD. The measurement of MCV should be undertaken in all DS individuals with a diagnosis of possible or definite dementia. A significant raised MCV (above 97fl for males and 99fl for females) may further improve the clinical diagnosis. A single MCV measurement, however, cannot be recommended as a diagnostic test for AD in adults with DS.
Insights
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.
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.
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