Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.

ABSTRACT: Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare, genetic disease caused by heterozygous mutations in the CSF1R gene with rapidly progressive neurodegeneration, behavioral, cognitive, motor disturbances.

Objective

To describe four cases of CSF1R-related leukoencephalopathy from three families with two different pathogenic mutations in the tyrosine kinase domain of CSF1R and to develop an integrated presentation of inter-individual diversity of clinical presentations.

Methods

This is an observational study of a case series. Patients diagnosed with CSF1R encephalopathy were evaluated with standardized functional estimation scores and subject to analysis of cerebrospinal fluid biomarkers. Brain computed tomography (CT) and magnetic resonance ima

SUBMITTER: Rosenstein I 

PROVIDER: S-EPMC9304267 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature