Northern Scotland has among world's highest rates of Huntington's disease
Aberdeen University experts' groundbreaking research aims to help revolutionize treatment
Northern Scotland has one of the highest rates of Huntington's disease in the world, a study has found.
The number of people living in the area who have the gene that causes the condition has been accurately counted for the first time in 35 years in research by the University of Aberdeen.
Researchers used NHS family-based records to find there are more than 160 adults living in Grampian, Highland, Orkney, Shetland, and the Western Isles who have the gene but have not been tested, and scientists believe the figure will be even higher as not everyone with symptoms seeks diagnosis.
The study, published in Neuroepidemiology, confirmed northern Scotland has one of the highest rates of Huntington's disease in the world at 14.5 per 100,000 people, more than five times the estimated worldwide rate of 2.71 per 100,000 people.
What effect does Huntington's have ?
Every child of someone affected has a 50:50 chance of inheriting the neurodegenerative gene, which slowly damages the brain, taking away the ability to walk, talk, eat, drink, make decisions and live independently.
On average, every person who has been diagnosed with Huntington's disease will have at least another 2.2 relatives who have the gene, meaning there are hundreds of people in northern Scotland who could be considered for effective treatments in the future, researchers said.
The research was led by Professor Zofia Miedzybrodzka of the University of Aberdeen and clinical lead for Huntington's disease at NHS Grampian.
Previous studies have mainly looked at the number of people who tested positive for the gene then estimated the number of relatives at risk using statistical modelling.
How the groundbreaking research did things differently
In the new study, scientists used family tree clinical records to count how many people have a 50:50 chance of having inherited the condition but have not been tested, amid hopes it will ensure future investment in specialist care.
Prof Miedzybrodzka said: "Previous work looked at how many people in the area have been tested for Huntington's disease, that is people diagnosed with Huntington's disease signs and those with a gene alteration that will develop the condition in later life.
"However, no-one has properly counted just how many people who haven't been tested yet must have the gene.
"It is crucial that we know this, and that it is accurate, so that health boards can properly plan for care and for treatments when they become available in the future.
"A 2022 Scottish Government report underestimated Huntington's disease rates and did not account for numbers of people at risk in a way that our data has."
Renewed calls for immediate improvement to services
Scottish Huntington's Association chief executive Alistair Haw said: "Earlier this term a Scottish Parliament motion calling for an expansion of specialist Huntington's disease services in light of rising cases became the most supported motion in the history of devolution.
"This latest study further strengthens the case for immediate action to expand specialist services for families impacted by Huntington's.
"Huntington's disease is a hugely complex, widely misunderstood and extremely difficult to manage condition. Specialist services are not some 'nice to have' optional extra but an absolute necessity to prevent patients reaching crisis point and presenting to acute emergency statutory services."