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Article

Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.

Acta neurologica Scandinavica - 1 May 2022

Rosenstein Igal, Andersen Oluf, Victor Daniel, Englund Elisabet, Granberg Tobias, Hedberg-Oldfors Carola, Jood Katarina, Fitrah Yusran Ady, Ikeuchi Takeshi, Danylaité Karrenbauer Virginija

Abstract excerpt

Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare, genetic disease caused by heterozygous mutations in the CSF1R gene with rapidly progressive neurodegeneration, behavioral, cognitive, motor disturbances. OBJECTIVE: To describe four cases of CSF1R-related leukoencephalopathy from three families with two different pathogenic mutations in the tyrosine kinase domain of CSF1R and to...

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PMID: 35119108
DOI: 10.1111/ane.13589
PMCID: PMC9304267

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