# A 43-year-old female with personality changes and alien limb

## TL;DR

A 43-year-old woman with personality changes and alien limb symptoms is reported, highlighting a rare CSF1R-related disorder.

## Contribution

This paper presents a case report and clinical discussion of a rare CSF1R-related disorder with underdiagnosed symptoms.

## Key findings

- CSF1R-related disorder can present with neurocognitive decline and alien limb phenomenon.
- The case highlights the importance of considering CSF1R mutations in differential diagnosis.
- Treatment options and clinical approaches for managing the disorder are discussed.

## 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.