‘Future generations need cure’ for brain disorder

Samantha Denison, 58, has neuroferritinopathy, a rare disease that mainly affects a small number of families with roots in Cumbria. She is at at least the fourth generation of her family to suffer a “cruel” brain disorder, which leaves people “trapped in” their own bodies, is hoping a drug trial can give hope to future patients.

Samantha Denison is at least the fourth generation of her family to have neuroferritinopathy, but her daughter has escaped it

Mrs Denison, from Bradford, is the first person to take part in the DefINe research study, to see if an existing drug, deferiprone, can remove the build-up of iron in the brain which causes the disease.

The condition, discovered by medics in Newcastle in 2001, usually results in patients losing the ability to talk or move while remaining fully aware of the world around them.

Scientists believe that worldwide there may only be about 100 people with neuroferritinopathy, but by the time they are diagnosed they may have children also carrying the gene.

Professor Patrick Chinnery, is leading the DefINe trial at the University of Cambridge, and described the condition as “cruel” because it left patients “trapped in”, unable to communicate with those around them.

Those who discovered and named the condition said it had often been misdiagnosed as Parkinson’s or Huntington’s disease prior to 2001.