作者: Kiyomitsu Oyanagi
DOI: 10.5692/CLINICALNEUROL.54.1165
关键词:
摘要: 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 reported to be encoding colony stimulating factor 1 receptor (CSF1R). Neuropathological examination reveals severe loss of axons cerebral white matter. Microglia astrocytes are upregulated lesions.