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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation

Hiroyuki Hatsuta1,2,3, Akitoshi Takeda3, Tomomi Fujita3

  • 1Department of Laboratory Medicine, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

Neuropathology : Official Journal of the Japanese Society of Neuropathology
|June 9, 2026
PubMed
Summary

This study details the first autopsy-proven case of colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy with a specific mutation. Findings reveal unique pathological features, expanding the known spectrum of this rare neurological disorder.

Keywords:
CSF1R‐related disorder (CSF1R‐RD)adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)cerebral amyloid angiopathy (CAA)colony‐stimulating factor 1 receptor (CSF1R)hereditary diffuse leukoencephalopathy with spheroids (HDLS)spheroids

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