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. 2010 Mar 2;7(3):e1000225. doi: 10.1371/journal.pmed.1000225

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.