C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12136071.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.
Medical subject headings
- Dementia, Multi-Infarct
- Mutation
- Stroke