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CSF1R -related leukoencephalopathy

14 Nov 2018

Abstract excerpt

Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R-related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia-like...

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PMID: 30429277
DOI: 10.1212/wnl.0000000000006642

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