Increased cerebral microbleeds and cortical superficial siderosis in pediatric patients with Down syndrome

Topic: Brain proteins, microglia and lab models

Background Patients with Down syndrome carry a third copy of the amyloid precursor protein gene, which is localized on chromosome 21. Consequently, these patients are prone to develop early-onset Alzheimer disease and cerebral amyloid angiopathy. Post-mortem studies suggest increased amyloid deposition to be already detectable in children with Down syndrome. The aim of our study was to evaluate if amyloid-related changes in pediatric Down syndrome patients can be detected in vivo using MRI biomarkers of cerebral microbleeds and cortical superficial siderosis. Materials and methods This retrospective study included 12 patients with Down syndrome (mean age = 5.0 years) and 12 age-matched control subjects (mean age = 4.8 years). Frequency and location of microbleeds and siderosis were assessed on blood-sensitive MRI sequences in a consensus reading by two radiologists applying a modified Microbleed Anatomical Rating Scale. Results Down syndrome patients showed a significantly higher mean microbleeds count and likelihood of siderosis than age-matched controls. Across groups, the highest microbleeds count was found in lobar regions (gray and white matter of frontal, parietal, temporal, and occipital lobes, and the insula), while fewer microbleeds were located in subcortical and infratentorial regions. The number of microbleeds increased over time in all three Down syndrome patients with a follow-up exam. Conclusion In vivo MRI biomarkers can support the diagnosis of early-onset cerebral amyloid angiopathy, which might already be present in pediatric Down syndrome patients. This might contribute to clinical decision-making and potentially to the development of therapeutic and prophylactic approaches, as cerebral amyloid angiopathy increases the risk for intracranial hemorrhage and may be associated with increased risk of developing Alzheimer disease.

Key findings

• Results Down syndrome patients showed a significantly higher mean microbleeds count and likelihood of siderosis than age-matched controls.
• This might contribute to clinical decision-making and potentially to the development of therapeutic and prophylactic approaches, as cerebral amyloid angiopathy increases the risk for intracranial hemorrhage and may be associated with increased risk of developing Alzheimer disease.

Why it matters

In 12 children with Down syndrome compared with 12 age-matched controls, this study found significantly more cerebral microbleeds and a higher likelihood of cortical superficial siderosis on MRI. It is a small retrospective imaging study and does not show a treatment or cure.

Study details

• Participants12
• Evidence strengthLow

Read the original

• DOI: 10.1016/j.ejpn.2018.09.004
• PubMed: 30279085
• Original source →

May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.

@article{schoeppe2019-30279085,
  author  = {Schoeppe, F. and Rossi, A. and Levin, J. and Reiser, M. and Stoecklein, S. and Ertl-Wagner, B.},
  title   = {{Increased cerebral microbleeds and cortical superficial siderosis in pediatric patients with Down syndrome}},
  journal = {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year    = {2019},
  doi     = {10.1016/j.ejpn.2018.09.004},
  pmid    = {30279085},
  url     = {https://doi.org/10.1016/j.ejpn.2018.09.004}
}

Studies this one cites

Referenced by this study and also in the alzhub library, so you can read them here.

• Alzheimer's disease in Down's syndrome: clinicopathologic studies Neurology · 1985-07-01 · usefulness score 61/100 · Getting a diagnosis
• Prevalence of cortical superficial siderosis in a memory clinic population Neurology · 2014-01-29 · usefulness score 61/100 · Brain scans and imaging
• Cortical superficial siderosis: detection and clinical significance in cerebral amyloid angiopathy and related conditions Brain : a journal of neurology · 2015-06-26 · usefulness score 56/100 · Brain tissue and pathology
• A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome Nature reviews. Neuroscience · 2015-08-05 · usefulness score 52/100 · Risk factors
• Correlation of hypointensities in susceptibility-weighted images to tissue histology in dementia patients with cerebral amyloid angiopathy: a postmortem MRI study Acta neuropathologica · 2010-03-01 · usefulness score 48/100 · Brain tissue and pathology
• Increased amyloid beta protein levels in children and adolescents with Down syndrome Journal of the neurological sciences · 2007-02-02 · usefulness score 42/100 · Down syndrome and Alzheimer's

Later studies that cite this one

1 study in the alzhub library lists this one in its references.

• Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis Developmental neurobiology · 2019-07-01 · usefulness score 43/100 · Down syndrome and Alzheimer's

Related studies in Down syndrome and Alzheimer's

• Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer's Disease Journal of Alzheimer's disease : JAD · 2019-01-01 · usefulness score 41/100
• Cerebral cortical astroglia from the trisomy 16 mouse, a model for down syndrome, produce neuronal cholinergic deficits in cell culture Proceedings of the National Academy of Sciences of the United States of America · 1997-11-01 · usefulness score 38/100
• Role of increased cerebral myo-inositol in the dementia of Down syndrome Magnetic resonance in medicine · 1995-06-01 · usefulness score 40/100
• Increased levels of tau-like protein in patients with Down syndrome Neuroscience letters · 1999-11-01 · usefulness score 29/100
• High expression on Kunitz-type protease inhibitor-containing substances in the cerebral vessels of patients with Down syndrome The Tohoku journal of experimental medicine · 1994-11-01 · usefulness score 28/100
• Alzheimer patients and Down patients: abnormal presynaptic terminals are related to cerebral preamyloid deposits Neuroscience letters · 1990-10-01 · usefulness score 39/100

Also tagged “down”

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• Intranasal rapamycin ameliorates Alzheimer-like cognitive decline in a mouse model of Down syndrome Translational neurodegeneration · 2018-11-06 · usefulness score 47/100 · Down syndrome and Alzheimer's
• The mortality of adults with Down syndrome as a function of age Mechanisms of ageing and development · 1986-11-01 · usefulness score 27/100 · Down syndrome and Alzheimer's
• Senile myoclonic epilepsy in Down syndrome: a video and EEG presentation of two cases Epileptic disorders : international epilepsy journal with videotape · 2006-09-01 · usefulness score 35/100 · Down syndrome and Alzheimer's

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• Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome 2012 · Down syndrome and Alzheimer's
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