A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD)

Area of Science:

• Neuroscience
• Genetics
• Rare Diseases

Background:

• CSF1R-related disorder (CSF1R-RD) is a rare neurodegenerative disease.
• Mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause CSF1R-RD.
• Over 200 mutations and diverse phenotypes are known.

Purpose of the Study:

• To present a case series of three patients with CSF1R-RD.
• To describe two CSF1R mutations, I827N and a novel S840C.
• To provide new insights into CSF1R-RD pathology through detailed clinical, diagnostic, and autopsy findings.

Main Methods:

• Case series presentation.
• Genetic analysis of CSF1R mutations.
• Clinical and radiographic evaluation.
• Autopsy findings in one case.

Main Results:

• Three patients with CSF1R-RD were identified.
• Two mutations were found: I827N and the novel S840C.
• Autopsy findings provided detailed pathological insights for the I827N mutation.

Conclusions:

• The study expands the understanding of CSF1R mutations and their associated phenotypes.
• Novel mutation S840C is identified in CSF1R-RD.
• Autopsy findings enhance knowledge of CSF1R-RD neuropathology.