Article
Highlighting the CSF1R mutational spectrum: c.2549C>T variant in late-onset leukoencephalopathy mimicking multiple sclerosis.
Neurologia i neurochirurgia polska - 1 Jan 2026
Babak-Jeziorska Valeria, Badura-Stronka Magdalena, Pawlak Joanna, Kania Karolina, Żur-Wyrozumska Kamila, Tokarz-Kupczyk Elżbieta
Abstract excerpt
INTRODUCTION: Late-onset CSF1R-related disorder is an ultra-rare neurogenetic disorder caused by pathogenic variants in the colony-stimulating factor 1 receptor (CSF1R) gene. Due to the rapid disease progression and rapid deterioration of neuropsychological status of affected individuals, prompt and accurate diagnosis is essential. This report aims to highlight the need for clinicians to consider this...
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