Article
Clinical and neuropathological analysis of the most common CSF1R p.Ile794Thr mutation.
Neurologia i neurochirurgia polska - 1 Jan 2026
Milanowski Łukasz, Liskey Delaney, Baker Matthew, Strongosky Audrey J, Lee Eunmi, Li Yonghe, Kanekiyo Takahisa, Dickson Dennis W, Wszolek Zbigniew K
Abstract excerpt
AIM OF THE STUDY: This study aims to define the clinical and neuropathological features associated with the CSF1R c.2381T > C, p.Ile794Thr variant. CLINICAL RATIONALE FOR THE STUDY: Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CSF1R-RD) is a rare, fatal, autosomal dominant leukoencephalopathy caused by mutations in the CSF1R gene, primarily affecting microglial function. The CSF1R c.2381T > C,...
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