Looking For Genetic and Environmental Risk Factors and Therapeutic Aspects in Cervical Artery Dissections

Background: Cervical artery dissections (CAD) are a major cause of ischemic stroke, longstanding disability, and occasionally death in young adults. Several lines of evidence suggest genetic predisposition for CAD. Previous genetic studies were, however, inconclusive mainly due to insufficient numbers of patients. Our hypothesis is that CAD is a multifactorial disease caused by yet largely unidentified genetic variants and environmental factors, which may interact.

Aim: Our main aim is to look for genetic and environmental risk factors and gene-environment interactions potentially underlying CAD. In addition, therapeutic aspects are addressed in the setting of a multicenter registry.

Methods: We organized a multinational European network, CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) which targets at increasing our knowledge on the pathophysiological mechanisms of this disease in a large, representative patient population. Within this network, we are aiming to perform a de novo genetic association analysis using both a genome-wide and a candidate gene approach. For this purpose, 1130 patients with CAD, 1130 patients with non-CAD ischemic stroke, and 1890 healthy controls are being recruited, and detailed clinical, laboratory, diagnostic, therapeutic and outcome data are being collected from all participating patients. We are expecting to reach the above numbers of subjects by the end of 2008. Analyses of the CADISP database might clarify a number of debated issues, including risk factors, stroke preventive treatment, and outcome predictors of CAD.

We present the strategy of a collaborative project searching for genetic risk factors of cervical artery dissections. We hope that the CADISP network will provide detailed and novel data on risk factors and treatment aspects of CAD.