Research

 

We have been researching into CADASIL for many years.  This has led to a number of significant advances including:

• Developing the best strategy for genetic testing in CADASIL. This strategy has now been implemented in the English National Health Service.(1)
• Demonstrating that common stroke risk factors (such as smoking and high blood pressure) can make CADASIL worse.  For example, if someone has CADASIL and they smoke, they are likely to have a stroke about ten years earlier than a similar person who does not smoke. (2,3)
• Identifying changes on brain magnetic resonance imaging (MRI) scans which are very useful in diagnosis of CADASIL. (4)
• Development of the BMET as a simple cognitive screen to assess memory and other cognitive impairment in people with CADASIL. (5)
• The first international study of treatment in CADASIL.  This looked at whether a drug which is used to improve memory performance in Alzheimer’s disease could also improve memory performance in CADASIL (Donepezil). (6)

• Described the pattern of migraine in CADASIL and analysed responses to treatments. (7)

• Described the syndrome of CADASIL encephalopathy. (8)

• Developed genetic screening protocols to screen for all know genes causing familial cerebral small vessel disease. (9)

• Co-Chaired a group which develop European Guidelines for management of CADASIL and other genetic forms of stroke. (10)

If you attend the CADASIL clinic at Cambridge, we are likely to ask you if you are interested in participating in our research projects.  We also keep a register of those people we see with CADASIL so that we can then notify people about future research projects.

 

References

 

1. Markus HS Martin RJ, Simpson MA, Dong YB,  Ali N,  Crosby AH, Powell JF. Diagnostic strategies in CADASIL. Neurology 2002; 59: 1134-8. Click here for PubMed abstract

 

2. Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain. 2004;127:2031-8. 

 

3. Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 2010;41:630-4. 

 

4. O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2000; 56: 628-634. Click here for PubMed abstract

 

5. Brookes RL, Hollocks MJ, Tan RY, Morris RG, Markus HS. Brief Screening of Vascular Cognitive Impairment in Patients With Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Without Dementia. Stroke 2016;47(10):2482-7. Click here for PubMed abstract

 

6. Dichgans M, Markus HS, Salloway S, Verkkoniemi A, Moline M, Wang Q, Posner H, Chabriat HS. Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. Lancet Neurol. 2008;7:310-8. Click here for PubMed abstract

 

7. Tan RY, Markus HS. CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships. PLoS One. 2016;11(6):e0157613. doi:10.1371/journal.pone.0157613. Click here for PubMed abstract. 

 

8. Drazyk AM, Tan RYY, Tay J, Traylor M, Das T, Markus HS. Encephalopathy in a Large Cohort of British Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients. Stroke. 2019;50:283-290. doi:10.1161/STROKEAHA.118.023661. Click here for PubMed abstract. 

 

9. Tan RYY, Traylor M, Megy K, et al. How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. Neurology. 2019;93:e2007-e2020. doi:10.1212/WNL.0000000000008544. Click here for PubMed abstract. 

 

10. Mancuso M, Arnold M, Bersano A, et al. Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol. 2020;27:909-927. doi:10.1111/ene.14183. Click here for PubMed abstract.