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Article

CSF1R-related leukoencephalopathy: experimental models and potential for treatment.

Disease models & mechanisms - 1 Jul 2026

Hume David A, Irvine Katharine M

Abstract excerpt

Dominant and recessive mutations in the human CSF1R gene are associated with microglial deficiency in the brain and severe neurodegenerative disease, known as CSF1R-related leukoencephalopathy (CRL). Dominant and recessive Csf1r mutations have been generated in mice, rats, zebrafish and chicken, providing models of the complete or partial microglial loss seen in patients. The impact of Csf1r mutations in inbred...

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Identifiers

PMID: 42495744
DOI: 10.1242/dmm.052957
PMCID: PMC13446561

Genes

CSF1R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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