CADASIL
(Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy)

What this mean in laymans terms?

Cerebral means it has to do with the brain.

Autosomal Dominant means it runs in families. It is known that each family member whose parent has the condition has a 50% chance of contracting the same condition and passing it on to their children with the same possibility whether male or female.

Arteriopathy it is a disease affecting the small blood vessels

Subcortical means deep within the brain.

Infarcts means areas of tissue that have died because of lack of oxygen reaching parts of the brain supplied by these damaged vessels.

Leucoencephalopathy means small areas of white matter occupying unusual locations in the brain.

Complex migraine is a common feature of the disease but for some, as yet, unknown reason this does not occur in every case. For example, although his mother is now known to have died at an early age of CADASIL, we cannot recall her having migraine, but she did suffer frequent headaches. A ‘complex’ migraine of the type my daughter have suffer from, from puberty are such that in addition to sick headaches there are often short term neurological symptoms, most commonly, disturbances of vision, numbness in parts of the face and one side of the body often accompanied by speech disturbance.

CADASIL is commonly characterised by recurrent strokes, most frequently first occurring in the 30 to 50 age group although this has been known to vary in some individuals. It is thought that the most persistent disability through arm and leg weakness, slurring of speech and severe nerve pain.

Researchers have now generally recognised that CADASIL results from a mutation in a very small part of the notch 3 gene. Thus normal protein reactions do not take place and the resultant abnormalities cause the dreadful features from which patients suffer. Very little is known about the disease mechanism but all patients suffer from progressive damage to the vascular system which causes reduced blood flow and an inability of the blood vessels to regulate blood flow. The abnormalities in micro-vessels supplying various centres of the brain with oxygen feature largely in the multiple small strokes experienced by CADASIL patients.