What is CADASIL?

CADASIL is an abbreviation for a long name describing a rare hereditary form of stroke (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). The disease usually presents with multiple small strokes, but migraine can also be a prominent feature. CADASIL is a genetic condition caused by a small abnormality (mutation) in a gene called NOTCH3.

The Stroke Research Group has a particular clinical and research interest in CADASIL. Professor Markus’s group performed early studies looking at how common CADASIL is in the UK and working out the best way to screen for it genetically. This screening was then implemented within the NHS. They established a multi-disciplinary national referral clinic for CADASIL at St George’s Hospital in London. When Hugh Markus moved to Cambridge in 2013, the clinic moved and there is now a monthly CADASIL clinic at Addenbrooke’s Hospital.

We coordinate a CADASIL website which can be found on the following link. The website includes information about the disease, and also has downloadable patient information leaflets.

 

Referrals to our CADASIL Clinic can be made by GPs and hospital doctors to Professor Hugh Markus.

We run an active research programme in CADASIL. We have a dedicated CADASIL research fund. Contributions  or fundraising initiatives, are always welcomed. Donations  can be made payable to “Act fund 9147 (CADASIL fund)” and sent to the same address as referrals.