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Collagen IV in Gould syndrome and Alport syndrome.
Nat Rev Nephrol
July 2025
Department of Ophthalmology, University of California San Francisco, San Francisco, CA, USA.
Collagen IV is a basement membrane component that is encoded by six genes in mammals (COL4Α1-COL4A6). The α-chains encoded by these genes assemble into three known heterotrimers - collagen α1α1α2(IV), α3α4α5(IV) and α5α5α6(IV) - that provide structure and act as multifunctional signalling platforms. The ancestral collagen superfamily members collagen alpha-1(IV) chain (COL4Α1) and collagen alpha-2(IV) chain (COL4Α2) are present throughout the animal kingdom and in all developing and most mature mammalian tissues.
View Article and Find Full Text PDFFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.
Dev Med Child Neurol
July 2025
Department of Neonatology, Brussels, Belgium.
Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance abuse; congenital brain infections; genetic conditions; and metabolic disorders. Cranial ultrasonography is the first-line imaging modality to diagnose these antepartum brain lesions in the newborn infant; it is often complemented by brain magnetic resonance imaging to detect associated neuronal dysmigration and dysplasia.
View Article and Find Full Text PDFObsessive-compulsive disorder and temporal lobe porencephaly: a case report.
BMC Psychiatry
April 2025
Mental Health Center, West China Hospital of Sichuan University, Sichuan Clinical Medical Research Center for Mental Disorders, No. 37 Guo Xue Alley, Chengdu, Sichuan, China.
Background: The functional and structural abnormalities of cortico-striato-thalamo-cortex have been reported to be associated with the neurobiological basis of obsessive-compulsive disorder (OCD). OCD can also occur in the striatum damaging after brain infarction, which is called OCD caused by physical diseases. The relationship and mechanism between temporal lobe abnormalities and OCD are still unclear.
View Article and Find Full Text PDFPhenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.
Epilepsia Open
June 2025
Department of Neurosurgery, Epilepsy Center, Tsinghua University Yuquan Hospital, Beijing, China.
Objective: To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2-related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery.
Methods: We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4 boys) treated for COL4A1/2-related epilepsy at Tsinghua University Yuquan Hospital.
Results: Two of the probands had COL4A1 variants and six had COL4A2 variants.
COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.
Am J Med Genet A
April 2025
Department of Clinical Genomics, Mayo Clinic, Scottsdale, Arizona, USA.
The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular leukomalacia, epilepsy, and neurodevelopmental disorders.
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