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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
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Acute Regression in Down Syndrome.

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|August 27, 2021
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Summary
This summary is machine-generated.

Individuals with Down syndrome (DS) experiencing acute regression may show early Alzheimer's disease (AD) biomarkers. Proteomics suggest higher risk, though imaging differences were minimal in this young cohort.

Keywords:
Alzheimer’s diseasebiomarkersdown syndromeregression

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Area of Science:

  • Neuroscience
  • Genetics
  • Biomarker Research

Background:

  • Acute regression, marked by sudden skill loss, affects some individuals with Down syndrome (DS) in their teens to late 20s.
  • This regression can be misdiagnosed as Alzheimer's disease (AD), highlighting a need for better diagnostic markers.
  • Understanding regression in DS is crucial for early intervention and appropriate care.

Purpose of the Study:

  • To investigate potential Alzheimer's disease (AD) biomarkers in individuals with Down syndrome (DS) who have experienced acute regression.
  • To compare biomarker profiles between individuals with DS with and without acute regression.
  • To explore differences in neuroimaging and fluid biomarkers associated with regression in DS.

Main Methods:

  • Comparison of five individuals with DS and acute regression against 15 unaffected DS individuals.
  • Utilized a panel of Alzheimer's disease (AD) biomarkers, including proteomics and PET imaging.
  • Assessed biomarkers such as NfL, total tau, amyloid load, and tau PET.

Main Results:

  • Proteomics data suggested potential differences in neurofilament light (NfL) and total tau between groups.
  • Brain imaging revealed slightly larger hippocampal, caudate, and putamen volumes in the regression group, contrary to hypotheses.
  • Amyloid PET scans showed slightly lower amyloid load in the regression group, with no differences in tau PET.

Conclusions:

  • Proteomics findings indicate individuals with DS experiencing acute regression might face an elevated risk for earlier-onset Alzheimer's disease (AD).
  • The mean age of participants (38 years) may be too young to detect significant differences in established image-based AD biomarkers.
  • Further longitudinal studies are needed to confirm these early findings and understand the long-term implications of acute regression in DS.