Cadasil - Clinical features, neuroradiology, genetics and diagnosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuk oencephalopathy (CADASIL) is a hereditary cerebral vasculopathy progressing to subcortical dementia, caused by multiple lacunar infarcts and ischemic white matter degeneration. Migraine with aura, epileptic seizures and affec tive disorders are frequent additional symptoms of CADASIL. The causative m utations of the Notch3 gene are located on chromosome 19p13.1. There is com plete penetrance of this disorder, although individual expression of sympto ms may vary. Manifestation of CADASIL is usually in the 3(rd) decade, but s ome individuals remain asymptomatic close to the age of 60. MRI displays a marked leukoencephalopathy in affected individuals as early as in the age o f 20. Frontal and subcortical hypoperfusion in demented individuals was dem onstrated by SPECT-studies. The prevalence of CADASIL is still not known. T o date there is no causative therapy.