A novel CSF1R missense mutation in a Chinese family with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report

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. We report a case of a 41-year-old man with rapid decline in cognition within 7 months of onset. Magnetic resonance imaging showed periventricular confluent white matter changes and atrophy of the corpus callosum. Clinical exome sequencing showed a mutation (c.2390T>G) in exon 18 of the CSF1R gene. In conclusion, the differential diagnosis of adult-onset leukodystrophy is extensive. Neuroimaging and genetic analysis greatly aid in the differential diagnosis of leukoencephalopathy.