Skip to main content

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

From: Pathophysiology of vascular dementia

Gene Disease Mode of
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
  1. 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.
  2. For references, see text