CADASIL is the acronym for " Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ". It is a genetic §disease with autosomal dominant transmission. The current clinical manifestations include migraine with aura starting between the ages of 20 and 40, cerebral infarcts usually occurring at about 50 years and cognitive deficits which become noticeable between the ages of 50 and 60 and gradually worsen with the development of dementia, motor difficulties and loss of balance in theterminal phase of the illness. Mood swings (depressive episodes, sometimes with mania or melancholia) are frequent. However, the development of the disease is extremely variable, with some patients showing only a few symptoms which develop over time or with late onset while in other cases there is a rapid development of severe handicap.
MRI (magnetic resonance imaging) shows an increase signal in the white matter, small deep infarcts (lacunar infarcts) and sometimes microbleeds. Certain neuroradiological features are highly suggestive of the disease, in particular the presence of hypersignals in the anterior poles of the temporal lobes of the brain on T2 or FLAIR sequences.
The gene responsible (Notch3) is situated on the short arm of chromosome 19. The protein encoded by the Notch3 gene is a membrane receptor expressed in the smooth muscle cells within the wall of small blood vessels throughout the body and, in particular, in the brain. Gene mutations cause this protein to accumulate in the vessel wall. The diagnosis, which may be strongly suspected from clinical and neuroradiological data is confirmed by the search for mutations of the Notch 3 gene using a genetic test that provides a diagnosis in 100% of cases.
No specific treatment of the disease has been assessed to date but treatment of the symptoms and psychological care are always necessary.