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• Vol.54 No.12
• CLINICA NEUROL, 54: 1165−1167, 2014
• Vol.54 No.12 contents

Symposium 01（by non designated speakers）

Neuropathology of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Kiyomitsu Oyanagi, M.D.¹⁾

¹⁾Division of Neuropathology, Department of Brain Disease Research, Shinshu University School of Medicine

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.
Full Text of this Article in Japanese PDF (877K)

(CLINICA NEUROL, 54: 1165−1167, 2014)
key words: juvenile dementia, spheroid, CSF1R, leukoencephalopathy, dominant inheritance

(Received: 21-May-14)