CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

Citation
Aa. Sullivan et al., CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, Journal of clinical neuroscience, 4(2), 1997, pp. 176-180
Citations number
12
Categorie Soggetti
Neurosciences,"Clinical Neurology
ISSN journal
09675868
Volume
4
Issue
2
Year of publication
1997
Pages
176 - 180
Database
ISI
SICI code
0967-5868(1997)4:2<176:CAAWSI>2.0.ZU;2-Y
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 o n 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 defection (RED) testing.