Stroke is a leading cause of death and disability in developed countries. While both modifiable and non-modifiable risk factors are acknowledged, studies have shown that these may account for just 50% of stroke risk and that other factors, including genetic ones, may be important. Over recent years family history, twin and candidate gene studies have supported this and various mendelian stroke syndromes have now been identified in humans. This article provides an up-to-date summary of the common single gene disorders associated with stroke as a principle manifestation, including their genetic basis, pathogenesis, presentation and suggested management. Often these disorders present with stroke at a young age; this article provides a practical approach to the management and investigation of a young stroke patient.
- CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
- CARASIL, cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy
- CBS, cystathione β-synthase
- HbF, fetal haemoglobin
- HbS, haemoglobin S
- HERNS, hereditary endotheliopathy, retinopathy, nephropathy and strokes
- MELAS, mitochondrial myopathy, encephalopathy, lactacidosis and stroke
- MMD, moya-moya disease
- MRI, magnetic resonance imaging
- NF1, neurofibromatosis type 1
- SAH, subarachnoid haemorrhage
- TIA, transient ischaemic attack
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