Cervco : Maladies Rares

Our centre’s aim is to improve treatment for patients suffering from a range of rare familial or sporadic vascular diseases affecting the central nervous system and the retina.

These diseases are as follows:

• Vascular diseases with symptoms that are mainly neurological in nature e.g. CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), familial cerebral amyloid angiopathies, familial cerebral cavernomatosis, familial small vessel diseases of the brain causing leukoencephalopathy, infarcts or cerebral haemorrhages, cerebral arterio-venous malformations (AVM), familial intracranial aneurysms.
• Vascular diseases with symptoms that are mainly ophthalmological in nature e.g. familial exsudative vitreo-retinopathy, retinal telangiectasia, Coats disease and retinal haemangioblastoma, especially in Von-Hippel-Lindau disease.
• Vascular diseases with symptoms that are both neurological and opthalmological in nature e.g. retinal arteriolar tortuosities associated with a stroke and familial cerebro-retinal vascular disease.

All these diseases meet the criteria for rare diseases (fewer than one person in 2 000 affected in the population as a whole). In several cases, the epidemiology still remains very imprecise and is sometimes limited to the discovery of a few families in France. The diseases may consist of serious vascular disorders that may compromise the functional capacity or independence of sufferers.

It is sometimes possible to diagnose these diseases using imaging or genetics many years before the late onset of the first neurological or ophthalmological symptoms (CADASIL, AVM, familial intracranial aneurysms). This may lead to very specific difficulty in caring for the patient on a medical and/or psychological level.