Abstract
Colony stimulating factor-1 receptor (CSF1R) encodes for a tyrosine kinase receptor expressed on microglia. CSF1R related disorder is a devastating autosomal dominant leukoencephalopathy caused by CSF1R with variable penetrance in adults. It remains significantly underdiagnosed or misdiagnosed. We report a case of a 43-year-old woman with an insidious onset of neurocognitive decline, alien limb phenomenon, and personality changes over 1 year. In this report we will discuss the clinical approach, differential diagnosis, investigation, and available treatment options for CSF1R related disorder.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 336-338 |
| Number of pages | 3 |
| Journal | Oxford Medical Case Reports |
| Volume | 2025 |
| Issue number | 5 |
| DOIs | |
| State | Published - May 1 2025 |
Keywords
- immunology
- neurology
- pharmacology
- pharmacy
ASJC Scopus subject areas
- Parasitology
- Microbiology
- Infectious Diseases
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