Twenty-nine years ago, Professor Oluf Anderson described a newly discovered neurological disease called HDLS (hereditary diffuse leukoencephalopathy with spheroids). It was known to be very serious and very rare.
Recently though, the idea that the disease is rare is changing. Collaborating with Christina Sundal, a doctoral student at the University of Gothenburg in Sweden, an HDLS international consortium was able to identify the genetic mutation that is responsible for causing the disease. The mutation is called CSF1R. The discovery was presented in a dissertation, followed by development of a new gene test. In the past few months, this gene test has led to more than 100 new cases of HDLS being diagnosed in the United States and Japan.
Up until I read this news story, I had never heard of HDLS. The majority of physicians have also been in the dark, which has lead them to a diagnosis instead of Alzheimer’s disease, Multiple Sclerosis, or Parkinson’s disease. Currently, there are 100 patients in Sweden diagnosed with MS who are undergoing genetic analysis to verify if their disease actually is MS or whether it could be HDLS.
This research, while only in the early stages, has inspired an international follow-up. Researchers at the Mayo Clinic in Florida have been able to gather information and samples from HDLS families around the world. Christina Sundal is now presenting her dissertation to the physicians and researchers at the Mayo Clinic, showing that the symptoms and changes of HDLS can be seen on magnetic resonance images of the brain. With this new discovery and the CSF1R mutation, the possibility of making the right diagnosis and development of future treatments is bright.
Sundal concludes, “Our research has shown that HDLS is often incorrectly diagnosed. We hope that the disease will now be easier to identify, and that it will eventually be possible to use the CSF1R gene mutation to develop new medicines that can treat both HDLS and other similar neurodegenerative diseases. I hope that our research will lead us to find a treatment in the future that can stop this disease, which is very devastating and strikes many families hard.”