Hereditary diffuse leukoencephalopathy with spheroids

Disease Overview

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.[5948]

Synonyms

• HDLS
• Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
• Leukoencephalopathy, diffuse hereditary, with spheroids
• Adult-onset leukodystrophy with neuroaxonal spheroids
• Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
• Hereditary diffuse leukoencephalopathy with axonal spheroids
• Neuroaxonal leukodystrophy
• Pigmentary orthochromatic leukodystrophy
• POLD