Northern Scotland has one of the highest rates of Huntington’s disease in the world, according to new research from the University of Aberdeen.
The region’s prevalence rate stands at 14.5 per 100,000 people, more than five times the estimated worldwide rate of 2.71 per 100,000.
For the first time in 35 years, scientists have accurately quantified the number of people living in the region carrying the gene that causes the condition.
The study, published in Neuroepidemiology, used NHS family-based records to identify previously uncounted cases.
Huntington’s disease is a neurodegenerative condition that slowly damages the brain
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Researchers identified more than 160 adults living in Grampian, Highland, Orkney, Shetland, and the Western Isles who have the gene but remain untested.
The actual figure is likely higher as not everyone with symptoms seeks a formal diagnosis.
Huntington’s disease is a neurodegenerative condition that slowly damages the brain, affecting the ability to walk, talk, eat, drink, make decisions and live independently.
According to the Mayo Clinic, it does this by causing nerve cells in the organ “to decay over time”. Every child of someone affected has a 50:50 chance of inheriting the gene.
On average, every person diagnosed with Huntington’s disease will have at least another 2.2 relatives who have the gene.
This means hundreds of people in northern Scotland could be considered for effective treatments in the future, researchers said.
Professor Zosia Miedzybrodzka of the University of Aberdeen, who led the research, said: “It is crucial that we know this, and that it is accurate so that health boards can properly plan for care and treatments when they become available in the future.”
A 2022 Scottish Government report underestimated Huntington’s disease rates, she noted.
Northern Scotland has one of the highest of the disease
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Heather Cruickshank, a genetic counsellor at NHS Grampian, added: “Services need to plan to treat these as-yet-uncounted people, as well as those currently diagnosed.”
“Better knowledge of the numbers of people who could benefit will encourage investment into drug discovery.”
Scottish Huntington’s Association chief executive Alistair Haw called for immediate action to expand specialist services for affected families.
“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,” he said.
