Genetics of ischaemic stroke; single gene disorders

International Journal of Stroke : Official Journal of the International Stroke Society
Enrico Flossmann

Abstract

Examples of single gene disorders have been described for all major subtypes of ischaemic stroke: accelerated atherosclerosis and subsequent thrombo-embolism (e.g. homocysteinuria), weakening of connective tissue resulting in arterial dissections (e.g. Ehler-Danlos type IV), disorders of cerebral small vessels (e.g. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and the collagen COL4A1 mutation), disorders increasing the thrombogenic potential of the heart through affecting the myocardium or the heart valves or through disturbance of the heart rhythm (e.g. hypertrophic cardiomyopathy), mitochondrial cytopathies increasing cerebral tissue susceptibility to insults (e.g. mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and finally disorders of coagulation that can either directly cause stroke or act synergistically with the aforementioned abnormalities (e.g. sickle cell disease). Most of these disorders are rare but they are important to consider particularly in young patients with stroke, those with a family history or those who have other characteristics of a particular syndrome.

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Citations

Apr 14, 2009·Current Atherosclerosis Reports·Myriam Fornage
May 26, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Hongwei ZhangGuangping Gao

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Methods Mentioned

BETA
Dissection
dissections
biopsy

Software Mentioned

CADASIL

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