New advances in identifying genetic anomalies in stroke-prone probands.
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.
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. meschia.james@mayo.edu
James F
JF
Meschia
Bradford B
BB
Worrall
D000755:Anemia, Sickle Cell / Q000235:genetics; D001161:Arteriosclerosis / Q000235:genetics / Q000473:pathology; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D008074:Lipoproteins / Q000378:metabolism; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D020521:Stroke / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers; D008074:Lipoproteins; D006710:Homocysteine