Current Neurology and Neuroscience Reports

, Volume 4, Issue 5, pp 420–426

New advances in identifying genetic anomalies in stroke-prone probands

  • James F. Meschia
  • Bradford B. Worrall

DOI: 10.1007/s11910-004-0090-9

Cite this article as:
Meschia, J.F. & Worrall, B.B. Curr Neurol Neurosci Rep (2004) 4: 420. doi:10.1007/s11910-004-0090-9


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.

Copyright information

© Current Science Inc 2004

Authors and Affiliations

  • James F. Meschia
    • 1
  • Bradford B. Worrall
    • 1
  1. 1.Department of NeurologyMayo ClinicJacksonvilleUSA

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