Table 1. Monogenic or single gene disorders causing stroke, classified according to the each one's stroke subtype.
Stroke Subtype | Specific Monogenic Disease |
Small vessel disease | CADASIL |
CARASIL | |
Cerebrovascular retinopathy and HERNS | |
COL4A1 small vessel arteriopathy with haemorrhage | |
Large artery atherosclerosis and other arteriopathies | Familial hyperlipidaemias |
Moya-Moya disease | |
Pseudoxanthoma elasticum | |
Neurofibromatosis type I | |
Large artery disease—dissection | Ehlers-Danlos syndrome type IV |
Marfan syndrome | |
Fibromuscular dysplasia | |
Disorders affecting both small and large arteries | Fabry disease |
Homocysteinuria | |
Sickle cell disease | |
Cardioembolism | Familial cardiomyopathies |
Familial arrhythmias | |
Hereditary haemorrhagic telangiectasia | |
Prothrombotic disorders | |
Mitochondrial disorders | MELAS |
HERNS, hereditary endotheliopathy with retinopathy, nephropathy, and stroke; MELAS, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.