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New advances in identifying genetic anomalies in stroke-prone probands

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Abstract

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 lcelandic 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.

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  1. Department of Neurology, Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA

    James F. Meschia MD & Bradford B. Worrall MD, MSc

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  1. James F. Meschia MD
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  2. Bradford B. Worrall MD, MSc
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Meschia, J.F., Worrall, B.B. New advances in identifying genetic anomalies in stroke-prone probands. Curr Atheroscler Rep 5, 317–323 (2003). https://doi.org/10.1007/s11883-003-0055-5

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