COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies.

Background Cerebral small-vessel disease (cSVD) is an important cause of stroke and vascular dementia. Most cases are multifactorial, but an emerging minority have a monogenic cause. While NOTCH3 is the best-known gene, several others have been reported. We aimed to summarize the cerebral phenotypes associated with these more recent cSVD genes.

Background Cerebral small-vessel disease (cSVD) is an important cause of stroke and vascular dementia. Most cases are multifactorial, but an emerging minority have a monogenic cause. While NOTCH3 is the best-known gene, several others have been reported. We aimed to summarize the cerebral phenotypes associated with these more recent cSVD genes.

Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis

COL4A1 mutations should not be a contraindication for epilepsy surgery

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke.

Intracerebral Hemorrhage and COL4A1 Mutations, from Preterm Infants to Adult Patients.

Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

COL4A1 Mutation in Axenfeld–Rieger Anomaly with Leukoencephalopathy and Stroke.

COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage.

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1