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.

1st COL4A1-A2 European Conference - Patricia Musolino - Gene therapy for rare genetic vascular disorders: a patient-driven journey in drug development

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.

Recently, patient advocacy groups started using the name Gould syndrome to describe clinical features ofCOL4A1 and COL4A2 mutations. Gould syndrome is increasingly identified in genetic screening panels,and because it is a rare disease, there is a disproportionate burden on families to understand the diseaseand chart the course for clinical care. Among the chief concerns for […]

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation

Cortical malformations and COL4A1 mutation: Three new cases

Neurologic phenotypes associated with COL4A1/2 mutations

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

Further refinement of COL4A1 and COL4A2 related cortical malformations

Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice

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

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

COL4A1 and fetal vascular origins of schizencephaly

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report

Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations