Adult-onset leukodystrophy with neuroaxonal spheroids

A rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. Hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia.

Disease Alternative Name

pigmentary orthochromatic leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
hereditary diffuse leukoencephalopathy with spheroids

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