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Related Experiment Video

Updated: Jun 21, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
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Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.

Jie Pan1, Jaume Fores-Martos1, Claire Delpirou Nouh2

  • 1Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

Acta Neuropathologica Communications
|August 31, 2024
PubMed
Summary
This summary is machine-generated.

CSF1R-related disorder involves white matter degeneration. A novel CSF1R gene deletion was found, revealing disease-associated microglia states and impaired oligodendrocyte precursor cell differentiation, highlighting microglia-oligodendroglia crosstalk in neurodegeneration.

Keywords:
ALSPCSF1RGPNMBHDLSLeukodystrophyMacrophageMicrogliaOPCOligodendrocyte

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • CSF1R-related disorder (CSF1R-RD) is a neurodegenerative condition affecting white matter, linked to genetic alterations in the CSF1R gene expressed by microglia.
  • An elderly patient presented with a progressive dementing disorder, initially negative for common leukodystrophies and neurodegenerative conditions.

Purpose of the Study:

  • To investigate the underlying mechanisms of white matter degeneration in a patient with suspected CSF1R-RD.
  • To identify the genetic cause and cellular pathology in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Main Methods:

  • Brain autopsy to identify pathological features consistent with ALSP/CSF1R-RD.
  • Long-read sequencing to detect genetic alterations in the CSF1R gene.
  • Single nuclear RNA sequencing (snRNAseq) to characterize cell states in affected brain regions.

Main Results:

  • Autopsy revealed ALSP features, confirming CSF1R-RD. A novel CSF1R deletion, missed by short-read sequencing, was identified.
  • Decreased CSF1R transcript and protein levels were observed across brain regions.
  • snRNAseq identified distinct disease-associated microglia states (lipid-laden and inflammatory) and impaired oligodendrocyte precursor cell (OPC) differentiation.

Conclusions:

  • CSF1R dysfunction drives specific microglial states and hinders OPC differentiation, leading to oligodendrocyte depletion and white matter degeneration.
  • Microglia-oligodendroglia crosstalk is a key mechanism in demyelination in CSF1R-RD.
  • Long-read sequencing is crucial for detecting complex genetic variants like deletions in CSF1R-RD.