Last updated:
ID:
351363
Start date:
23 May 2025
Project status:
Current
Principal investigator:
Dr Arianna Tucci
Lead institution:
Queen Mary University of London, Great Britain

Repeat expansion disease are amongst the most common inherited neurological conditions, and collectively affect one in every 3,000 people. These disorders are difficult to assess epidemiologically due to their highly variable clinical presentation, resulting in under-diagnosis.
With the UKBB data, we aim address the difficulty of meaningful REDs frequency estimates and determined the clinical presentation and neuroimaging features of the genetic defect that cause REDs