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.

• Authors: Rishi Sharma, Jonathan Graff-Radford, Rosa Rademakers, Bradley F Boeve, Ronald C Petersen, David T Jones
• Journal: Neurocase (Neurocase) 2019 Feb - Apr Vol. 25 Issue 1-2 Pg. 17-20 ISSN: 1465-3656 [Electronic] England
• PMID: 30968732 (Publication Type: Case Reports, Journal Article)

Chemical References

• CSF1R protein, human
• Receptors, Granulocyte-Macrophage Colony-Stimulating Factor

Topics

• Humans
• Lewy Body Disease (diagnostic imaging, genetics, pathology, physiopathology)
• Male
• Middle Aged
• Receptors, Granulocyte-Macrophage Colony-Stimulating Factor (genetics)