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

Background 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 were reported patients CSF1R-related leukoencephalopathy. Method In this case report, we described ALSP previously healthy 46-year-old woman. The patient underwent detailed neurological examinations including cognitive assessment, brain magnetic resonance imaging (MRI) whole-exome sequencing. Result manifested as memory impairment, poor interpersonal behavior decreased verbal fluency. Brain MRI showed confluent white matter changes atrophy corpus callosum. Whole-exome sequencing identified novel splice site mutation (C.1858 + 5G > A) intron 13 gene, which has not been worldwide. Conclusion wide range clinical manifestations genetic heterogeneity. It should be considered when diagnosing rapidly progressive dementia or without motor impairment. We recommend biopsy testing these to avoid misdiagnosis delayed diagnosis. will continue monitor family future improve our understanding ALSP, so correctly diagnose clinic provide data for better research on pathogenesis treatment disease.