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

Abstract

AbstractBackgroundAdult‐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.MethodIn this case report, we described ALSP in a previously healthy 46‐year‐old woman. The patient underwent detailed neurological examinations including cognitive assessment, brain magnetic resonance imaging (MRI) and whole‐exome sequencing.ResultThe patient manifested as memory impairment, poor interpersonal behavior and decreased verbal fluency. Brain 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, which has not been reported worldwide.ConclusionALSP has a wide range of clinical manifestations and genetic heterogeneity. It should be considered when diagnosing rapidly progressive dementia with or without motor impairment. We recommend biopsy or genetic testing in these patients to avoid misdiagnosis and delayed diagnosis. We will continue to monitor this family in the future to improve our understanding of ALSP, so as to correctly diagnose ALSP in clinic and provide clinical data for better research on the pathogenesis and treatment of this disease.