[Adult leukoencephalopathy with axonal spheroids and pigmented glia]

Adult leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurological disease characterized by brain white matter demyelination, axonal edema, and glial cell pigmentation. The disease is associated with mutations in the CSF1R gene encoding the colony-stimulating factor 1 receptor. Adult leukoencephalopathy with axonal spheroids and pigmented glia is characterized by cognitive and motor disorders, rapid steady progression, and an autosomal dominant inheritance. The variability and nonspecificity of the clinical manifestations of this condition cause a high rate of misdiagnosis of diseases such as Alzheimer's disease, frontotemporal dementia, Parkinson's disease, multiple sclerosis, normotensive hydrocephalus, Creutzfeldt-Jakob disease, etc. The true prevalence of the disease is unknown due to the low awareness of doctors, and therefore, a significant proportion of cases remain unrecognized. The article presents the authors' observation of a family case of adult leukoencephalopathy with axonal spheroids and pigmented glia, identified by targeted panel sequencing.