New Genetic Brain Disease

New Genetic Brain Disease

Scientists have discovered a new neurodegenerative disease in a Cumbrain family. This disease has lain undiscovered for the last 200 years among the members of this family.

For generations this family believed that they had inherent risk of Parkinson's or Huntington's disease. They had problems with control of the limb movements. The patients had limb movement problems, but showed a remarkable brain clarity and none of the degeneration associated with Huntington's and Parkinson's. One family member killed herself when she started having these symptoms. It was her death and the subsequent post mortem that this break through took place.

Professor John Burn and his team from the Institute of Human Genetics at the University of Newcastle found out that this condition was being caused by the build-up of iron in the brain cells -- Neuorferritinopathy.

Prof Burn's team found that their was an error in the ferritin that stores irn inside the cells and prevents iron causing damage to the cell. What was happening in the family was that the ferritin was not working properly and the cells in the basal ganglia were filling up. The build up eventually stopped the cells from functioning.

Further research may help in finding cure for diseases like Parkinson's and Huntington's disease.

The study was published in Nature Genetics.

Huntington's chorea

Source BBC News

Sorry, your browser doesn't suppor Java.