Northern Scotland experiences a notably high incidence of Huntington’s disease, according to recent findings from the University of Aberdeen.
The region exhibits a prevalence rate of 14.5 individuals per 100,000 – significantly exceeding the global average of approximately 2.71 per 100,000. This represents a more than fivefold difference.
After 35 years, researchers have now achieved an accurate assessment of the number of individuals in this area carrying the gene responsible for this debilitating condition. Utilizing data from NHS family records, the study, published in *Neuroepidemiology*, uncovered previously unidentified cases.
The research team identified over 160 adults across Grampian, Highland, Orkney, Shetland, and the Western Isles who possess the Huntington’s gene but have yet to undergo testing. The true number is believed to be higher considering that not all affected individuals seek a formal diagnosis.
Huntington’s disease is a progressive neurodegenerative disorder impacting brain function, progressively impairing vital abilities such as movement, communication, and decision-making – ultimately compromising independent living. As described by the Mayo Clinic, the condition causes “nerve cells in the organ to decay over time.” The inheritance pattern dictates that each child of an affected individual has a 50% probability of inheriting the gene.
Furthermore, individuals diagnosed with Huntington’s disease typically have at least 2.2 other relatives who also carry the gene, highlighting the potential for widespread impact within families.
This discovery opens possibilities for future treatments, potentially benefiting hundreds of people in northern Scotland.
“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.” – Professor Zosia Miedzybrodzka, University of Aberdeen.
Professor Miedzybrodzka also pointed out that a 2022 report from the Scottish Government underestimated the prevalence rates of Huntington’s disease.
Heather Cruickshank, a genetic counselor at NHS Grampian, emphasized the need for service planning to accommodate these as-yet-undiagnosed individuals alongside those already diagnosed. “Better knowledge of the numbers of people who could benefit will encourage investment into drug discovery.”
Alistair Haw, chief executive of the Scottish Huntington’s Association, urged swift action to expand specialized support services for families affected by this condition.
- Specialist services are essential, not merely optional.
- They prevent patients from reaching crisis points and requiring emergency care.
