CSF1R mutation presenting as dementia with Lewy bodies

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). The clinical phenotypes reported with CSF1R mutations are variable. We present a case of a patient with a pathogenic variant in the CSF1R gene with clinical and imaging features suggestive of Dementia with Lewy Bodies (DLB). This case expands the known clinical presentations associated with CSF1R mutations.

Original languageEnglish (US)
Pages (from-to)17-20
Number of pages4
Issue number1-2
StatePublished - Mar 4 2019


  • CSF1R
  • MRI
  • REM sleep behavior disorder
  • dementia with Lewy body
  • parkinsonism

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


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