Medical Updates


Potassium channelopathy-like defect underlies early-stage cerebrovascular dysfunction in a genetic model of small vessel disease 2016

CADASIL France:  CADASIL Cohort Study 2016
CADASIL France: Medical reports at the 2016 CADASIL Assembly
CADASIL France: Dr. Anne Joutel: Timp 3 - 2015
CADASIL France: Medical reports at the 2015 CADASIL Assembly
Dr. Michael Wang: Update on the Wang Lab
Dr. med. Marco Düring: Study for CADASIL
Dr. James Grotta, University of Texas
: Mobile Stroke Unit Project  
Dr. Anand Viswanathan, Massachusetts: The mechanisms of cognitive impairment  
Dr. Michael Wang, Michigan: Investigate pathological processes in the blood vessels 
Dr. Keith Muir, Glasgow, Scotland: Biopsy study   
Dr. Joutel and Dr. Nelson, Paris, France Potential therapeutic avenues?


Dr. med. Marco Düring, Junior Research Group Leader, Institute for Stroke and Dementia Research (ISD), Klinikum der Universität München, Max-Lebsche-Platz 30, D-81377 München: A new study is currently set up in Germany at the Institute for Stroke and Dementia Research in Munich ( The study focuses on the identification of relevant mechanisms of the disease in order to develop new therapeutic strategies. The study is scheduled to start in February. A study visit includes MRI exams as well as psychological testing. No contrast agent or other drugs will be administered. The researchers are seeking native German speaking participants for this study. Travel and accommodation costs will be covered. For more information, please contact 089-7095-8363 or

James Grotta, Professor of Neurology at the University of Texas Medical School at Houston and Director of the Stroke Program at Memorial Hermann - Texas Medical Center:
  Mobile Stroke Unit Project,  Stroke is the 3rd leading cause of death in Texas, the leading cause of chronic adult disability and has significant economic impact with $2.7 billion in Texas hospital charges in 2010.  Revolutionizing Neuroscience: Acute stroke management needs to be reconfigured to allow rapid screening and treatment of stroke patients for time-limited therapy. To accomplish this, Memorial Hermann and UT Health will introduce a specialized

ambulance for pre-hospital stroke treatment, which provides all diagnostic tools and stroke medicine competence needed for therapeutic decisions directly at the site of the emergency. This novel model for delivering acute stroke treatment would advance stroke care in Houston and has the potential for broad impact across the state.  The Mobile Stroke Unit, consisting of an ambulance equipped with computed tomography, a point-of-care laboratory system for complete stroke laboratory work-up, and telemedicine capabilities will achieve delivery of etiology-specific and guideline-adherent stroke treatment at the site of the emergency, well before arriving at the hospital. In a departure from current practice, stroke patients could be treated according to their ischemic or hemorrhagic etiology even in the pre-hospital phase of stroke management. The Mobile Stroke Unit will be staffed with a specially trained team, including a stroke fellow and Neuro-intensive care unit -trained nurse. The team will be able to assess, diagnose and begin treatment at initial contact with patients and will be in constant contact with Memorial Hermann-TMC-UT Health stroke experts, through the use of telemedicine.

Dr. Michael Wang, Assistant Professor of Neurology and Director of Molecular Stroke Research in the Department of Neurology at the University of Michigan & Physician in the Neurology Department at the VA Ann Arbor Healthcare System: The lab at the University of Michigan and the Ann Arbor VA is continuing to investigate pathological processes in the blood vessels in CADASIL.  They have identified several new NOTCH3 binding partners and some new modifications of NOTCH3 that may play a role in the disorder.  The other good news is that In October, their VA grant to study CADASIL was renewed for another four years!  They would like to thank all of the wonderful families for their support, without which they could not go along with our studies,
Dr. Anand Viswanathan, Associate Director of the Partners Telestroke Program at Massachusetts General Hospital; Member of the Massachusetts Alzheimer's Disease Research Center; Staff Neurologist in both the Stroke Service and Memory Disorders Unit at Massachusetts General Hospital; & Assistant Professor of Neurology at Harvard Medical School:  The mechanisms of cognitive impairment in small-vessel disease of the brain including CADASIL will be discussed among CADASIL experts and other experts in the field in a session at the upcoming American Heart Association International Stroke Meeting in San Diego, CA.  This session should help to bring new ideas to CADASIL research and spark further studies in understanding the mechanisms of vascular cognitive impairment.

Dr. Keith Muir, SINAPSE Professor of Clinical Imaging & Consultant Neurologist, Institute of Neurosciences & Psychology, University of Glasgow, Southern General Hospital, Glasgow, Scotland:   is conducting a study looking at blood flow responsiveness in peripheral and brain vessels has completed most of the first visit scanning, with a few MRI scans to be scheduled in the New Year.  We hope to have some initial analysis done and submitted for the European Stroke Conference (which will be in May 2014) but the important part of the study is the behavior over time, so the next 2 years will be more interesting. 
The biopsy study has also started with samples from two people so far and the remainder to be scheduled early next year. Blood vessels have been obtained successfully and the work to characterize their (abnormal) function is underway. 
Updated data on CADASIL prevalence in Scotland and changing patterns of disease over time is being submitted for publication but has yet to find a home.  


Anne Joutel and Mark Nelson - Potential therapeutic avenues?... SINGER-POLIGNAC

Presented at “CADASIL 20 years later, what next?” Second International Workshop, September 19 and 20, 2013, Paris, France
Hosted by the Fondation SINGER-POLIGNAC

A new animal model for CADASIL

Although we know the genetic abnormality (mutation) which causes CADASIL, we are a long way from understanding how this abnormality results in the disease.  If we could understand this link better, it might be possible to develop treatments which can delay onset of the disease.  An important advance in this area has been made by a group of researchers in Paris led by Anne Joutel who have developed a new animal model of CADASIL.  This involves introducing a typical CADASIL mutation into a mouse.  The mouse developed a disease which is in many ways similar to human CADASIL including similar brain changes (deposition of NOTCH3 extracellular domain aggregates and granular osmiophilic material; GOM).  The researchers were able to show that abnormalities in the regulation of blood flow within the brain appeared to be an early feature of the disease.  This suggests that in some way CADASIL genetic mutations result in an inability of the blood vessels to regulate blood flow normally which could then lead to brain damage secondary to a shortage of blood (and oxygen) supply.  Hopefully, this model will tell us many new things about the disease and may also allow us to investigate new treatments for the disease.

Reference: Joutel A, Monet-Leprêtre M, Gosele C, Baron-Menguy C, Hammes A, Schmidt S, Lemaire-Carrette B, Domenga V, Schedl A, Lacombe P, Hubner N. Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease.  J Clin Invest. 2010;120: 433-45.