"COL4A1-related disorders are a group of autosomal dominant disorders caused by a mutation in the COL4A1 gene."
"COL4A1 brain small-vessel disease"
"See COL4A1 brain small-vessel disease for a detailed description."
"This form of cerebral small vessel disease is characterised by lacunar infarcts and progressive white matter lesions typically involving the pons, subcortical white matter and basal ganglia 6. Clinically, it manifests with focal neurological sequelae of these infarcts and dementia 6. Unlike COL4A1 brain small vessel disease, haemorrhage is not a common feature."
"As the name suggests, HANAC syndrome presents with cerebral small vessel disease, nephropathy with haematuria, intracranial aneurysms and muscle cramps 2,5. In addition, these patients also commonly exhibit bilateral retinal artery tortuosity, as well as other multi-organ involvement 2,5. Notably, unlike COL4A1 brain small-vessel disease, the cerebral small vessel disease in HANAC syndrome is generally asymptomatic 2,5."
"COL4A1-related disorders are a group of autosomal dominant conditions resulting from a number of different mutations to the COL4A1 gene 1-5. This gene, located on the long arm of chromosome 13, normally encodes for the alpha-1 chain of type IV collagen 1-5. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-5. While generally familial, up to 27% of cases are thought to have de novo mutations 1."
"Radiographic features tend to overlap between the different COL4A1-related disorders 1 and are discussed in depth in each of the individual articles."
"Also known as porencephaly type 1 or hereditary porencephaly, characterised by a wide spectrum of neurological features associated with antenatal or perinatal intracerebral haemorrhage that causes the porencephaly 4. There is often also significant leukoaraiosis noted, which differentiates it from other causes of porencephaly 4. Features of CNS dysfunction range from virtually none to profound (e.g. infantile hemiparesis, intellectual disability, etc.) 4. Rarely, ocular manifestations may also be seen 4."
"Also known as porencephaly type 1 or hereditary porencephaly, characterised by a wide spectrum of neurological features associated with antenatal or perinatal intracerebral haemorrhage that causes the porencephaly 4. There is often also significant leukoaraiosis noted, which differentiates it from other causes of porencephaly 4. Features of CNS dysfunction range from virtually none to profound (e.g. infantile hemiparesis, intellectual disability, etc.) 4. Rarely, ocular manifestations may also be seen 4."
"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome"
"As the name suggests, HANAC syndrome presents with cerebral small vessel disease, nephropathy with haematuria, intracranial aneurysms and muscle cramps 2,5. In addition, these patients also commonly exhibit bilateral retinal artery tortuosity, as well as other multi-organ involvement 2,5. Notably, unlike COL4A1 brain small-vessel disease, the cerebral small vessel disease in HANAC syndrome is generally asymptomatic 2,5."
"As the name suggests, HANAC syndrome presents with cerebral small vessel disease, nephropathy with haematuria, intracranial aneurysms and muscle cramps 2,5. In addition, these patients also commonly exhibit bilateral retinal artery tortuosity, as well as other multi-organ involvement 2,5. Notably, unlike COL4A1 brain small-vessel disease, the cerebral small vessel disease in HANAC syndrome is generally asymptomatic 2,5."
"See HANAC syndrome for a detailed description."
Expected headings
"COL4A1 brain small-vessel disease"
"Pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL)"
"Familial porencephaly"
"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome"
"Also known as porencephaly type 1 or hereditary porencephaly, characterised by a wide spectrum of neurological features associated with antenatal or perinatal intracerebral haemorrhage that causes the porencephaly 4. There is often also significant leukoaraiosis noted, which differentiates it from other causes of porencephaly 4. Features of CNS dysfunction range from virtually none to profound (e.g. infantile hemiparesis, intellectual disability, etc.) 4. Rarely, ocular manifestations may also be seen 4."