title: [Neuropathology of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)].
abstract: Hereditary diffuse leukoenchephalopathy with axonal spheroids (HDLS) is a disease showing progressive dementia and convulsion in humans at the age around 40's. HDLS usually shows autosomal dominant inheritance, but frequently has de novo occurrence. The causative gene is reported to be a gene encoding the colony stimulating factor 1 receptor (CSF1R). Neuropathological examination reveals severe loss of axons with axonal spheroids in the cerebral white matter. Microglia and astrocytes are upregulated in the lesions.
authors: Division of Neuropathology, Department of Brain Disease Research, Shinshu University School of Medicine.
authors: Kiyomitsu
authors: K
authors: Oyanagi
mesh_terms: D000293:Adolescent; D000328:Adult; D001253:Astrocytes / Q000473:pathology; D002648:Child; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D017628:Microglia / Q000473:pathology; D009154:Mutation; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics; D066127:White Matter / Q000166:cytology / Q000473:pathology; D055815:Young Adult
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor