Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - ALSP - HDLS - Hereditary Diffuse Leukoencephalopathy with Spheroids - POLD - Pigmentary Orthochromatic Leukodystrophy