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Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.

Journal of internal medicine - 1 Mar 2022

Mickeviciute Goda-Camille, Valiuskyte Monika, Plattén Michael, Wszolek Zbigniew K, Andersen Oluf, Danylaité Karrenbauer Virginija, Ineichen Benjamin V, Granberg Tobias

Abstract excerpt

Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare but fatal microgliopathy. The diagnosis is often delayed due to multifaceted symptoms that can mimic several other neurological disorders. Imaging provides diagnostic clues that help identify cases. The objective of this study was to integrate the literature on neuroimaging phenotypes of CSF1R-related leukoencephalopathy. A...

Topics

Brain
Female
Humans
Leukoencephalopathies
Magnetic Resonance Imaging
Mutation
Neuroimaging
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34875121
DOI: 10.1111/joim.13420

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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