How many people have a Huntington's Disease expansion: A population-based prevalence study in Northern Scotland
Despite high predictive testing rates, at least 2.2 adults are living with the HTT gene expansion for every one of the 14.5 per 100,000 manifest HD patients in Northern Scotland. Regional variation in rates and ascertainment need to be factored into future service planning, including genetic counselling and testing, management, and treatment delivery.
Authors
- Zosia Miedzybrodzka (ORCID: https://orcid.org/0000-0003-2890-8136)
- Heather Cruickshank (ORCID: https://orcid.org/0000-0002-3867-5826)
Institutions
- University of Aberdeen (GB)
- Wessex Regional Genetics Laboratory (GB)
Publication Details
- Journal
- Neuroepidemiology
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1159/000542739
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00