Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

A A Sullivan; B T Teh; S Jeavons; M Schalling; P Silburn; C Larsson; R Boyle

doi:10.1016/s0967-5868(97)90070-9

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

J Clin Neurosci. 1997 Apr;4(2):176-80. doi: 10.1016/s0967-5868(97)90070-9.

Authors

A A Sullivan¹, B T Teh, S Jeavons, M Schalling, P Silburn, C Larsson, R Boyle

Affiliation

¹ Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

PMID: 18638952
DOI: 10.1016/s0967-5868(97)90070-9

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a recently described genetic disease characterized by recurrent subcortical infarcts and dementia. Based on linkage analysis its gene has been assigned to chromosome 19p13. We report an Australian kindred with typical clinical features of CADASIL, the diagnosis being supported by linkage analysis. No expansion was detected on repeat expansion detection (RED) testing.