CSF1R mutation presenting as dementia with Lewy bodies

ABSTRACT

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.

KEYWORDS:

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

Disclosure statement

No potential conflict of interest was reported by the authors.