New advances in identifying genetic anomalies in stroke-prone probands

James F. Meschia, Bradford B. Worrall

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


The past several years have been marked by significant progress in identifying genetic anomalies in stroke-prone probands. These advances have occurred in both highly penetrant single-gene disorders and in common stroke, which is influenced by risk/susceptibility genes. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be challenging to diagnose because of the wide range of notch 3 mutations that can cause disease, but a new immunohistochemical technique using a skin biopsy sample appears to be highly sensitive and specific. In a landmark Icelandic study, linkage was established between stroke and a locus on chromosome 5q12 designated STRK1. Association studies continue to identify polymorphisms that predispose to stroke and to markers for cerebrovascular atherosclerosis, such as intima-media thickness. Intense interest now surrounds genes involved in inflammation, including genes that encode for the interleukin-1 receptor antagonist and paraoxonase-1. In the foreseeable future, prevention, diagnosis, and treatment will incorporate genetic data to refine and individualize management of cerebrovascular disease.

Original languageEnglish (US)
Pages (from-to)317-323
Number of pages7
JournalCurrent atherosclerosis reports
Issue number4
StatePublished - Jul 2003

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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