Above: Professor Garth Nicholson
A rare new form of hereditary dementia has been discovered by a team of Australian and US medical experts.
The detection of a new gene defect sheds new light on the complex factors causing dementia and, it is hoped, will open new avenues that could eventually lead to breakthroughs in treatment in the future.
The finding was made by Concord Hospital Neurologist and University of Sydney Professor based at the ANZAC Research Institute, Professor Garth Nicholson; Dr Chris Klein from the Mayo Clinic in the United States; and Dr Cecilie Lander from Royal Brisbane Hospital.
Professor Garth Nicholson said the good news was that people could be tested for the genetic defect. “Dementia and the physical symptoms associated with this particular form of dementia don’t strike until later in life, but we are able to test people for the defective gene at any stage,” he said.
Professor Nicholson said their research provided an extra piece in the dementia puzzle and confirmed there were many different forms of the illness.
“The disorder that we have identified is caused by a genetic defect that disrupts part of enzyme DNMT1, which plays an important role in the long term survival of nerve cells, which unlike other cells in the body, have to last a lifetime,” Professor Nicholson said.
“The genetic defect is passed from generation to generation, affecting approximately 50 per cent of people born to a parent with the defective gene.
“Although it is not a common form of dementia, the defective gene also leads to people suffering progressive deafness, loss of balance, and loss of sensation, which begins in the feet.
“There is currently no treatment available, but we hope that with further advances such as this one we will have a better chance of treating it,” he said.
