Pathophysiology of vascular dementia

Immunity & Ageing

Table 1 Single-gene disorders associated with ischaemic stroke (for reference see the text)

Gene	Disease	Mode of inheritance	Stroke mechanism
*GAL*	Fabry's disease	X-linked	Large-artery disease and small-vessel disease
*NOTCH3*	CADASIL	AD	Small-vassel disease
*HBB*	Sickle-cell disease	AR	Large-artery disease, small-vessel disease, haemodynamic insufficiency
*CBS and others*	Homocystinuria	AR	Large-artery disease, cardioembolism, small-vessel disease, arterial dissection
*mtDNA*	MELAS	Maternal	Complex (microvascular and neuronal factors)
*FBN1*	Marfan syndrome	AD	Cardioembolism and arterial dissection
*COL3A1*	Ehlers-Danlos syndrome type IV	AD	Arterial dissection
*ABCC6*	Pseudoxanthoma elasticum	AR	Large-artery disease and small-vessel disease

AD = autosomal dominant. AR = autosomal recessive. HBB = haemoglobin beta. CADASIL = cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. MELAS = mitochondrial myopathy, encephalopathy, lactacidosis, and stroke. mtDNA = mitochondrial DNA.
For references, see text

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