Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. As of 2022, more than 100 different CSF1R mutations were reported in patients with CSF1R-related leukoencephalopathy. In this case report, we describe ALSP in a previously healthy 46-year-old woman who presented with memory impairment, poor interpersonal behavior, and decreased verbal fluency. Brain magnetic resonance imaging (MRI) showed confluent white matter changes and atrophy of the corpus callosum. Whole-exome sequencing identified a novel splice-site mutation (C.1858 + 5G > A) in intron 13 of the CSF1R gene, resulting in an intron 12 retention and an exon 13 deletion of CSF1R mRNA.

Keywords: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; Colony-stimulating factor 1 receptor; Gene mutation; Leukoencephalopathy; mRNA splicing.