Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)
What is HDLS?
Hereditary diffuse leukoencephalopathy with spheroids is a neurological condition that sees damage of the white matter and axons of the brain.
What are the symptoms of HDLS?
Damage to the white matter of the brain is called leukoencephalopathy, which brings its own symptoms. Other effects include:
- Personality changes
- Memory loss
- Loss of executive functioning
- Muscle stiffness
- Very slow movement
As this condition is progressive, nearly all affected individuals will eventually be unable to walk, talk, and live independently.
What causes HDLS?
A mutated CSF1R gene causes HDLS, and it is inherited in an autosomal dominant pattern. This gene is responsible for the colony stimulating factor 1 receptor protein. A mutation results in the inability to stimulate cell signaling pathways, which leads to the characteristic symptoms, but medical professionals are unsure as to how those two things connect.
How is HDLS diagnosed?
Doctors often notice the characteristic symptoms of HDLS and perform a clinical exam, evaluate patient history, and perform MRIs of the brain. They will confirm a diagnosis through histopathology.
What are the treatments of HDLS?
The only treatment option is symptomatic, which often requires a team of specialists.