Specialist Care Delays Early Strokes by Five Years

New Study Highlights Impact of Dedicated CADASIL Clinic

A groundbreaking study reveals that specialized care can postpone the onset of strokes linked to a rare genetic disorder by up to five years, offering new hope to affected families.

CADASIL Condition Explained

The condition, known as Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), impacts small blood vessels throughout the body. This significantly heightens the risk of bleeds, particularly in the brain, leading to strokes, often at an earlier age than typically observed.

CADASIL can also contribute to migraines and dementia. It is an inherited condition, with a 50% chance of transmission from an affected parent to their child. Individuals diagnosed with CADASIL may experience multiple strokes, with symptoms often appearing between the ages of 30 and 60.

Positive Impact of Specialist Support

The national CADASIL clinic, situated at Addenbrooke’s Hospital in Cambridge, provides vital support for individuals suspected of having the condition and their families. Professor Hugh Markus, a consultant neurologist leading the clinic, expressed optimism about the findings.

“It means a lot to see that the work we are doing to improve awareness and diagnosis appears to be having a positive impact.”

—Prof Hugh Markus, Consultant Neurologist

A study involving 555 patients referred to the clinic between 2001 and 2023 demonstrated a clear benefit from improved awareness, understanding, and specialized care. Those who received care before 2016 typically experienced their first stroke between ages 37 and 56. In contrast, patients referred after 2016 saw their initial stroke onset delayed, occurring between ages 42 and 61 – nearly five years later.

Patient’s Journey with CADASIL

Glenn Bate, from near Diss in Norfolk, shared his experience after being diagnosed with CADASIL following a stroke in 2015. Now 69 and a trustee for CADASIL Support UK, he described the profound impact of the stroke.

“Having a stroke changed everything in my life – I had to relearn everything. I couldn’t drive, and I felt like my life was over,” Bate recounted. He experienced difficulties with walking, balance, and anxiety upon leaving the hospital, feeling as though he was “going home to die.”

The support received at the Cambridge clinic extended to his mental health. “When you’re diagnosed, the possibility of having more strokes can be really scary,” Bate added. He highlighted the significance of the study’s findings for patients like himself.

“It’s fantastic to know that people like me are now living longer without experiencing strokes. It means we’re not just living longer but getting a better quality of life.”

—Glenn Bate, CADASIL Patient and Trustee

Research published by the Alzheimer’s Society indicates that while CADASIL is a rare condition, its impact can be devastating, leading to early dementia and strokes. The identification of specific genetic mutations, like NOTCH3, has improved diagnostic accuracy, allowing for earlier interventions and support strategies, much like those offered by the Cambridge clinic (Alzheimer’s Society, 2024).