Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

Abstract

Background
CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary autosomal dominant non-atherosclerotic non-amyloid cerebral arteriopathy. It is a relatively novel disease, identified in 1993. To our knowledge its occurrence in South Africa has not been reported in the literature. Here we present the clinical and laboratory features of five patients with CADASIL.

Methods

Patients with the characteristic radiological white matter disease and typical features (family history, ischaemic events, migraine or dementia) were evaluated for possible CADASIL. The evaluation included a clinical examination, routine investigations for strokes, MRI, skin biopsy electron microscopy, evoked potentials and EEG.

Results

The clinical and laboratory features of our study correlate to a large extent with previously reported studies. However, all of the skin biopsies were positive, and the onset of migraine in our patients was considerably earlier. A new finding, to our knowledge, is the normality of visual, somatosensory and auditory evoked potentials.

Conclusion

This study clearly confirms the existence of CADASIL in South Africa. It also suggests that skin electron microscopy is useful, despite recent reports of its low sensitivity, and that evoked potentials in CADASIL are likely to be normal.