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

Neurocase 2026 Open access

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Authors: Anup N. Sonti, Elizabeth Joe, Jillian V. Berry, Michelle McDonnell, S. Ahmad Sajjadi, Nasim Sheikh‐Bahaei, Lilyana Amezcua, Danielle Feigenbaum, Mark Lew, Mathew M. Blurton-Jones, Elizabeth Head, John Matthew Ringman
DOI: 10.1080/13554794.2026.2613957
Cited by: 0
References: 23

Abstract

CSF1R-related disorder (CSF1R-RD) is a rare neurodegenerative disorder linked to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Over 200 mutations and diverse clinicoradiographic phenotypes have been described thus far. This case series presents three patients with two CSF1R mutations (I827N and S840C) of which the S840C mutation is novel. We detail their clinical presentations, diagnostic evaluations, and the autopsy findings for one case associated with the I827N mutation, offering new insights into the pathology of this disease.

Fields of Study & Subjects

Hereditary Neurological Disorders Neuroinflammation and Neurodegeneration Mechanisms Neurological diseases and metabolism

Publication details

Journal / source
Neurocase
Volume
32
Issue
1
Pages
13–21
Publication date
2 January 2026
Language
EN