New research from Aberdeen University identified more than 160 untested adults in the region carrying the Huntington's gene, with the actual number likely higher.
The study confirms a rate of 14.5 per 100,000 people in northern Scotland, over five times the global average.
Researchers used family-based NHS records, offering a more accurate count than previous studies that relied on statistical modelling.
This data will help health boards plan for future care and treatment of Huntington's disease, including genetic counselling and testing.