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

Neurocase - 1 Feb 2026

Sonti Anup N, Joe Elizabeth, Berry Jillian V, McDonnell Michelle, Sajjadi Seyed Ahmad, Sheik-Bahaei Nasim, Amezcua Lilyana, Feigenbaum Danielle, Lew Mark F, Blurton-Jones Matthew, Head Elizabeth, Ringman John M

Abstract excerpt

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...

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Identifiers

PMID: 41636225
DOI: 10.1080/13554794.2026.2613957

Genes

CSF1R

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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