Cerebrospinal fluid findings in CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathic condition leading to cerebrovascular symptoms with onset in mid-adulthood.1 The disease is clinically characterized by transient ischemic attacks, strokes, progressive subcortical dementia, psychiatric disturbance, and migraine-like headaches.2,3 Recently, mutations within the Notch3 gene were identified as the underlying genetic defect in CADASIL.4 The diagnosis may be established both by genetic studies and by ultrastructural examination of small arterioles obtained from skin biopsy samples. Electron microscopy reveals characteristic granular osmiophilic deposits within a thickened vascular basal membrane, sometimes accompanied by degenerating vascular smooth muscle cells. These alterations are particularly evident within the brain.5

Some authors have reported abnormalities of the CSF in patients with CADASIL. Findings include elevated protein levels, oligoclonal bands, pleocytosis, and normal results. However, these reports were from unsystematic observations on small patient samples. Information on the frequency of CSF …