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Article

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

Scientific reports - 22 Oct 2013

Pridans Clare, Sauter Kristin A, Baer Kristin, Kissel Holger, Hume David A

Abstract excerpt

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) in humans is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the CNS white matter. Symptoms are variable and can include personality and behavioural changes. Patients with this disease have mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1R) which is a tyrosine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24145216
DOI: 10.1038/srep03013
PMCID: PMC3804858

Genes

CSF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.PMID 24145216Read ↗

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