"COL4A1 brain small-vessel disease, or COL4A1 haemorrhagic microangiopathy, is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease."
"A similar syndrome is seen in patients with a rarer mutation to the COL4A2 gene, and indeed, the two syndromes are often lumped together as COL4A1/2 brain small-vessel disease or COL4A1/2 haemorrhagic microangiopathy 7."
"Notably, dementia is not a feature of COL4A1 brain small-vessel disease 1. Furthermore, multi-organ involvement (including features of other COL4A1-related disorders) has also been reported in patients with COL4A1 brain small-vessel disease, including cataracts, retinal haemorrhages, Axenfeld-Rieger anomaly, optic nerve dysgenesis, nephropathy, muscle cramps, mitral valve prolapse, arrhythmias, and Raynaud phenomenon 1-4,7."
"COL4A1 brain small-vessel disease is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen 1-6. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-6."
"COL4A2 brain small-vessel disease (COL4A2 haemorrhagic microangiopathy)"
"heterozygous HTRA1-related cerebral small vessel disease"
"A similar syndrome is seen in patients with a rarer mutation to the COL4A2 gene, and indeed, the two syndromes are often lumped together as COL4A1/2 brain small-vessel disease or COL4A1/2 haemorrhagic microangiopathy 7."
"A similar syndrome is seen in patients with a rarer mutation to the COL4A2 gene, and indeed, the two syndromes are often lumped together as COL4A1/2 brain small-vessel disease or COL4A1/2 haemorrhagic microangiopathy 7."
Expected headings
"CTA/MRA"
"Notably, dementia is not a feature of COL4A1 brain small-vessel disease 1. Furthermore, multi-organ involvement (including features of other COL4A1-related disorders) has also been reported in patients with COL4A1 brain small-vessel disease, including cataracts, retinal haemorrhages, Axenfeld-Rieger anomaly, optic nerve dysgenesis, nephropathy, muscle cramps, mitral valve prolapse, arrhythmias, and Raynaud phenomenon 1-4,7."