Outlook for people with rare stroke condition has improved with the help of specialist care in Cambridge, study shows

15 July 2025

Greater awareness and the availability of specialist care has helped to delay the average onset of symptoms caused by a rare genetic condition by around five years, according to a recent study supported by the National Institute for Health and Care Research. The condition causes early-onset strokes and increases risk of dementia, often affecting multiple members of the same family.

Known as CADASIL, the condition is thought to affect several thousand people in the UK, of which many are supported by the national CADASIL clinic at Addenbrooke’s Hospital.

The clinic is led by Hugh Markus, a consultant neurologist at Addenbrooke’s and Professor of Stroke Medicine at the University of Cambridge. Through the clinic, Professor Markus and his team provide patients with specialist care and advance our understanding of this rare disease.

People with CADASIL may experience multiple strokes which can start between the ages of 30 and 60. While many of these are minor and patients often recover, their overall effect can be severe and debilitating. Many patients also experience migraines and can go on to develop dementia.

The recent study, which was led by Professor Markus, included 555 people referred to the clinic between 2001 and 2023. Over this time awareness and understanding of the condition, as well as availability of specialist care have all improved.

On average, patients referred to the clinic before 2016 experienced their first stroke between the ages of 37 and 56 (average 46.7). Patients referred since 2016 typically didn’t start getting strokes until almost five years later, between ages 42 and 61 (average 51.6).

Infrastructure for the study was provided by the Cambridge British Heart Foundation Centre of Research Excellence (RE/18/1/34212) and the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre (NIHR203312).

By creating a tailored service for patients, the CADASIL clinic contributes to these improvements by facilitating genetic testing to diagnose patients and screen family members, contributing to a greater understanding of the condition, and providing targeted advice for patients on how to reduce their stroke risk.