National Taiwan University Hospital, Taiwan, Kaohsiung Chang Gung Memorial Hospital, Taiwan, Carrera de Medicina, Universidad Cientfica del Sur, Peru, Federal University of Rio Grande do Sul, Brazil. Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, et al. Understanding what it has taken to get her to this point, though, is close to unimaginable. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. ACS Omega. (2008) 17:42433. Molecular analysis was performed on a gDNA level by means of PCR amplification of all the coding exons and the flanking intron region. We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 mutations. Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A. This is not specific to COL4A1/A2-related disorders, and is a sign of many different types of muscle disease. doi: 10.1056/NEJMoa1707914, 6. This review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations. The surgery Affected individuals may have no observable symptoms or only isolated migraines with aura. Other causes of porencephaly were ruled out [maternal alloimmunization, trauma, peri-natal cerebral ischemia (normal Apgar scores at birth), and negative TORCH complex tests]. Clipboard, Search History, and several other advanced features are temporarily unavailable. NORD gratefully acknowledges Douglas Gould, PhD, Professor, Director of Research, Denise B. Evans Endowed Chair in Ophthalmology, Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, and the COL4A1 Foundation, for assistance in the preparation of this report. In addition to providing strength and support to tissues, basement membranes provide instructional cues to cells. COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. It is possible that insufficient collagen in the basement membrane predisposes blood vessels in the brain to leak or rupture. III-3 was asymptomatic but for severe hypermetropia and bilateral cataracts. GeneReviews. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues, including the brain. Zeevas brain to treat a cyst in her brain caused by porencephaly. Novel COL4A1 mutation in a fetus with early prenatal onset of - Nature Dev Med Child Neurol. doi: 10.1111/cge.12379, 13. In the back of the eye, affected individuals have also twisting or distortion (tortuosity) of arteries in the retina (bilateral retinal arterial tortuosity) as part of the syndrome or as an isolated finding. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). (2009) 73:187382. 2022 Sep;269(9):5153-5156. doi: 10.1007/s00415-022-11111-0. Ann About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Clinical Testing and Workup COL4A1-related brain small-vessel disease - MedlinePlus Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. After the COL4A1 mutation was found, systemic manifestations of COL4A1 mutations were investigated. IV-5Brain MRI revealing porencephalic cyst of frontal horn of lateral right ventricle (C). Some individuals do not have any observable symptoms (asymptomatic); others can develop severe, even life-threatening complications. Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Gould Syndrome Foundation (COL4a1/COL4A2) seeks to educate the community on the rare disease COL4A1 and it's subcategorical diagnosis'. (2012) 54:56974. Written informed consent was obtained from the patient and the patient's parents for publication of this case report. doi: 10.1212/WNL.0b013e3181eee440, 28. (2017) 377:111931. What does it mean if a disorder seems to run in my family? 1 Survivors often have a severely diminished quality of life, require long-term care, and are at high risk . Stroke. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). Suite 310 for the triple helical CB3[IV] domain. Mutated patients develop a diffuse small vessel disease of the brain as shown by a diffuse leukoencephalopathy on MRI. (For more information on this disorder, choose cadasil as your search term in the Rare Disease Database. Gould Syndrome Foundation (COL4a1/COL4A2) - NORD (National Organization (2017) 5758:2944. The signs and symptoms can manifest at almost any age from before birth to old age. See our, COL4A1-related brain small-vessel disease, URL of this page: https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease/. CADASIL patients can experience progressive memory loss, deterioration of intellectual abilities and loss of balance with a progressive worsening of these symptoms, but symptoms are usually less severe and occur later in life. IV-5 had microcephaly without motor deficits, a language delay, a mental retardation (IQ of 62) that required adapted schooling, and severe hypermetropia. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. The latest research shows that insufficient COL4A1/A2 in basement membranes damages different tissues in very different ways. COL4A1 is an essential component for basal membrane stability and exon mutations of COL4A1 gene mutations are responsible for a broad spectrum of systemic manifestations characterized by small vessel involvement of variable severity, including neurological ( 1) [porencephaly ( 2 - 4 ), hemorrhage ( 2, 5 - 7) and aneurysms ( 8 )], ophthalmological Matrix Biol. A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. In the front of the eye, patients can have abnormally small eyes (microphthalmia), cataracts (cloudy lenses), and anterior segment dysgenesis (Axenfeld-Rieger). The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. Fetal intracerebral hemorrhage and cataract: think COL4A1. When a mutation occurs in one of these genes, the rope does not wind up properly and it stays inside the cell. 2009 Jun 25 [updated 2016 Jul 7]. Neurology. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. doi: 10.1212/WNL.0000000000001309, 8. mutations: a novel genetic multisystem disease. This can lead to problems 1) if too much of the misfolded protein accumulates within cells, 2) if not enough of the protein exits the cells to form networks, and 3) occasionally, the presence of the mutant proteins outside the cells can interfere with the structure of the network. How can gene variants affect health and development? Please note that NORD provides this information for the benefit of the rare disease community. Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. For example, an individual may carry genetic variants elsewhere in their genome that confers protection or susceptibly to the mutation and environmental experiences (trauma, anticoagulant use, physical exertion etc.) Neurology. I cannot describe the feeling of seeing your child healed. Nat Methods. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12. Children with the most severe brain malformations may have: Intellectual impairment Seizures Hydrocephalus Spasticity People who have a disorder of the corpus callosum typically have: The inheritance pattern is autosomal dominant (14) and age-dependent with almost 100% penetrance. Hereditary cerebral small vessel diseases: a review. At least six affected families have been described in the scientific literature. 2017;57-58:29-44. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328961/, Sondergaard CB, Nielsen JE, Hansen CK, Christensen H. Hereditary cerebral small vessel disease and stroke. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Ten months later, the left hemiparesis was observed with a lack of voluntary prehension on his left side without spasticity. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. mutations: a novel genetic multisystem disease. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken. With genetic disorders, the type of mutation, or its location in the gene can sometimes be associated with varying outcomes. For instance, retinal arteriolar tortuosity relates to mutations in the amino-terminal one-third of the protein while mutations causing cataracts and ocular morphologic alterations are more likely to occur, closer to the carboxy terminus (22), like the variant we report. Danbury, CT 06810 Children inherit a full complement of chromosomes from each of their parent and so we carry two copies of each gene. NORD strives to open new assistance programs as funding allows. Staals J, Makin SDJ, Doubal FN, Dennis MS, Wardlaw JM. Phone: 617-249-7300, Danbury, CT office doi: 10.1002/ajmg.10452, 18. Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C. COL4A1 Purpose of review: Symptoms that may occur in individuals with autosomal dominant type I porencephaly include migraines, weakness or paralysis of one side of the body (hemiparesis or hemiplegia), seizures, stroke, and dystonia, a group of neurological disorders characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions. PMC Email: [emailprotected], Some current clinical trials also are posted on the following page on the NORD website: We describe, here, the phenotype of a likely pathologic variant (p.Gly743Val) in exon 30 of the COL4A1 gene, responsible for an oculo-cerebral phenotype characterized by severe hypermetropia and highly penetrant porencephaly in absence of other systemic complications. Gould Syndrome - COL4A1 - COL4A2 genes - Gould Syndrome Foundation Gould Syndrome Foundation We are a registered 501 (c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes. COL4A1 mutations are responsible for a wide range of abnormalities affecting mainly the brain and the retinal vasculature, the anterior and posterior ocular structures and the renal glomerules. Arch Neurol. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-6. (2007) 357:268795. NORD is a registered 501(c)(3) charity organization. 11:827. doi: 10.3389/fneur.2020.00827. Rannikme K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, et al. 1779 Massachusetts Avenue Liu X, Yang Q, Tang L, He J, Tian D, Wang B, Xie L, Li C, Fan D. Front Neurol. It is important to discuss these concepts with a genetic counselor and understand their implications. (2015) 88:46873. Curr Med Chem. So far, it appears as though mutations in COL4A1 and COL4A2 lead to identical disease, however, for reasons that are not yet understood, mutations in COL4A2 are much less frequent than those in COL4A1. Disclaimer. FOIA Porencephaly refers to the formation of fluid-filled cysts or cavities within of the brain. Pediatr Neurol. Col4a1 mutation generates vascular abnormalities correlated with Neurology. MedlinePlus also links to health information from non-government Web sites. In the brain, intracerebral hemorrhage is the most frequent phenotype. She was struggling to advance both cognitively and physically because of uncontrolled epilepsy. (18) and Staals et al. If neither parent carries the mutation, it is considered de novo which means that the mutation is a new occurrence. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Cesarean delivery for pregnancies with fetus at risk for a COL4A1-related disorder is recommended to prevent brain vascular injury attributable to birth trauma during delivery (6). (1982) 40:5679. Rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. Neurology. (2008) 23:17. She had seizures every day, couldnt gain weight, sleep right, or generally enjoy her life. A diagnosis of COL4A1/A2-related disorders is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests including advanced imaging techniques. Comparison of Clinical, Radiographic, and Histological Features in COL4A1 Syndrome Compared With Other Single Gene Disorders Causing SVD. Nearly half of these participants were diagnosed with infantile spasms. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. https://www.clinicaltrialsregister.eu/, JOURNAL ARTICLES If either parent also carries the mutation, it is considered inherited. A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. The ultimate goal of IAMRARE is to unite patients and research communities in the improvement of care and drug development. 2017 Jan;66:100-103. doi: 10.1016/j.pediatrneurol.2016.04.010. In some people, serious, life-threatening complications may occur in infancy; in others, only minor complications may occur and intelligence is unaffected. Washington, DC 20036 Various treatments have been reported in the medical literature as part of single case reports or small series of patients. doi: 10.1212/01.WNL.0000123113.46672.68, 25. This can manifest as porencephaly if the vessels rupture in utero, hemorrhagic stroke postnatally or in adults, or even small cerebral microbleeds that might go unnoticed except on MRI. Neuropediatrics. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. 1A-B). In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. People with HANAC syndrome develop kidney disease (nephropathy). What does it mean if a disorder seems to run in my family? COL4A1/A2-Related Disorders - Symptoms, Causes, Treatment | NORD See our, Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome, URL of this page: https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome/. COL4A1 Syndrome CADASIL Unauthorized use of these marks is strictly prohibited. NCI CPTC Antibody Characterization Program. Contact a health care provider if you have questions about your health. Collagen, type IV, alpha 1 - Wikipedia But she is learning to read, enjoys swimming, horseback riding, and is a glass jewelry and pottery artist. Other phenotypes include intracranial aneurysms, porencephaly, infantile hemiparesis, muscle cramps, optic nerve dysgenesis and secondary glaucoma. The causative gene of HANAC is COL4A1 (13q34) encoding the alpha1 chain of collagen IV, a major component of basement membranes also involved in . These proteins have very restricted expression and Alport Syndrome primarily affects the kidneys with variable involvement of the eye and cochlea (hearing). Dr. Madsen suggested Zeeva have an operation called a Suite 500 2018;91:e2078-e2088. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. The outcomes are highly variable ranging from brain hemorrhage before birth (in utero) leading to cavities in the brain (porencephaly) to mild age-related brain abnormalities that can only be observed on a specialized x-ray called magnetic resonance imaging (MRI). Type IV collagen molecules attach to each other to form complex protein networks. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Individuals with COL4A1 or COL4A2 mutations can also develop formation of clefts or slits in the two halves of the brain (schizencephaly) in which cerebral hemispheres are missing and replaced with sacs filled with cerebrospinal fluid (hydranencephaly), abnormal folds in the brain surface (polymicrogyria) or abnormalities in the normal laying of the neuronal cells in the brain (cortical lamination defects). Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. COL4A1 mutations as a monogenic cause of cerebral Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. 2015;17:843-853. https://www.nature.com/articles/gim2014210, Yoneda Y, Haginoya K, Kato M, et al. Systemic work-up including renal function, CK levels, urinary sediment test, and renal ultrasound proved unremarkable. Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659. For example, networks of COL4A1 and COL4A2 are present in the basement membranes of blood vessels. Phone: 203-263-9938 Fax: 203-263-9938, Washington, DC Office Gould Syndrome is an ultra rare genetic, multi-system disorder. Lenses corrected for hypermetropia. The degree of mosaicism is highly variable ranging from only a small percent of cells with the mutation to nearly all cells carrying the mutation and depends on the stage during development that the mutation occurred. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, September 2003. Symptoms of the following disorders can be similar to those of COL4A1/A2-related disorders. COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis. Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Some people with COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. The risk is the same for males and females. Bull Acad Natl Med. Stroke subtype, vascular risk factors, and total MRI brain small-vessel disease burden. This is called genotype-phenotype correlation. Available at: https://www.ncbi.nlm.nih.gov/books/NBK7046/ Accessed January 28, 2019. 2017;155:45-57. https://www.ncbi.nlm.nih.gov/pubmed/28254515, Alavi MV, Mao M, Pawlikowski BT, et al. N Engl J Med. Neurology. Please enable it to take advantage of the complete set of features! Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Changing lives of those with rare disease. Cavalin M, Mine M, Philbert M, et al. Glaucoma is initially treated with topical medications and, if medical therapy is unsuccessful, surgery. Image showed ventricular asymmetry and brain MRI confirmed right frontotemporal dilatation (B). This condition causes mutations in genes that produce a specific type of collagen. Participants with epilepsy frequently reported developmental delays (88.6%), stroke (60.0%), cerebral palsy (65.7%), and constipation (57.1%). (2011) 42:13. Paques M, Ronco P. Novel COL4A1 mutations associated with HANAC syndrome: a role Abnormal blood vessels in the brain are a major consequence of COL4A1 and COL4A2 gene mutations. The networks formed by the COL4A1 and COL4A2 proteins are called basement membranes and are present in every organ of the body. Our experience with Boston Childrens was very different from the other places we had been for epilepsy and neurology treatment. These types of correlations can be difficult to detect in patients because of the broad genetic variability in humans. How are genetic conditions treated or managed? Genet Med. At 2 years old, IV-6 presented obvious left hemiparesis but could move without help. Maybe try a search? This raises questions about what tests Liliane has a lot to be grateful for this holiday season. Additional features include poor or absent speech development, facial paralysis (paresis), involuntary muscle spasms (spasticity) that result in slow, stiff, rigid movements, visual field defects, and hydrocephalus, a condition in which accumulation of excessive cerebrospinal fluid in the skull causes pressure on the tissues of the brain, resulting in a variety of symptoms. Affected individuals have kidney disease (nephropathy) causing blood in the urine (hematuria) that can either be seen by the naked eye (gross hematuria) or only visible when tested (microscopic hematuria). 10.2174/092986710790936293. We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://nord1dev.wpengine.com/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328961/, https://www.ncbi.nlm.nih.gov/pubmed/28254515, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728690/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351667/, https://www.nature.com/articles/gim2014210, https://www.ncbi.nlm.nih.gov/pubmed/23225343, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459649/, https://www.ncbi.nlm.nih.gov/pubmed/22868088, https://www.ncbi.nlm.nih.gov/pubmed/22574627, https://www.ncbi.nlm.nih.gov/pubmed/20558831, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881859/, https://www.ncbi.nlm.nih.gov/pubmed/26610912, https://www.ncbi.nlm.nih.gov/books/NBK7046/, https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Cephalic-Disorders-Fact-Sheet, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, Arginine: Glycine Amidinotransferase Deficiency, https://rarediseases.org/non-member-patient/epilepsy-foundation/, Gould Syndrome Foundation (COL4a1/COL4A2), https://rarediseases.org/non-member-patient/gould-syndrome-foundation-col4a1-col4a2/, https://rarediseases.org/non-member-patient/national-kidney-foundation/, https://rarediseases.org/non-member-patient/nih-national-eye-institute/, NIH/National Institute of Neurological Disorders and Stroke, Aromatic L-Amino Acid Decarboxylase Deficiency, https://rarediseases.org/non-member-patient/nih-national-institute-of-neurological-disorders-and-stroke/, https://rarediseases.org/non-member-patient/the-arc/, Learn more about Patient Organization & Membership >, HANAC: hereditary angiopathy, nephropathy and cramps syndrome (OMIM #611773), POREN1: autosomal dominant type 1 porencephaly; porencephaly with infantile hemiplegia (OMIM #175780, RATOR: retinal arterial tortuosity (OMIM #180000), BSVD: brain small vessel disease with or without ocular anomalies (OMIM #607595), ICH: susceptibility to intracerebral hemorrhage (OMIM #614519). II-2 had a limp since childhood attributed to forceps delivery. doi: 10.1038/nmeth.2890, 22. Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. doi: 10.1126/science.1109418, 5. The main symptom is single or repeated bleeding inside the skull (intracranial hemorrhaging) that can occur without cause (spontaneously), after trauma, or when taking drugs that slow blood clotting (anticoagulants). Would you like email updates of new search results? COL4A1 is an essential component for basal membrane stability. After a normal neonatal period, those affected develop a rapidly progressive course involving irritability, hyperaesthesia, visual and hearing loss, severe cognitive and motor deterioration, and seizures. In addition to the effects of a clear COL4A1 or COL4A2 mutation, large genetic studies reported associations for COL4A1/A2 with intracranial aneurysms, myocardial infarction, arterial calcification, arterial stiffness, deep intracerebral hemorrhages, lacunar ischemic stroke, reduced white matter volume and vascular leukoencephalopathy. Mosaicism can contribute to both reduced penetrance or variable expressivity but other factors do as well. doi: 10.1002/ana.23736, 4. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. January 31, 2019 2022 Oct 26;7(44):39680-39689. doi: 10.1021/acsomega.2c03360. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. COL4A1 mutations cause progressive retinal neovascular defects and retinopathy. Please note that NORD provides this information for the benefit of the rare disease community. (19). Individuals with HANAC syndrome also experience a variety of eye problems. Epub 2010 Jun 17. percent confident in Dr. Madsen and the epilepsy team. In the human genome, there are 46 chromosomes. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies. doi: 10.2214/ajr.149.2.351, 19. Pediatricians are physicians who specialize in the childhood disorders and are often the first to detect patients with COL4A1/A2-related disorders. 4 Both . In a retrospective study of 52 patients with COL4A1 mutations, stroke occurred in 17.3% of subjects and MRI showed white matter abnormalities (63.5%), subcortical microbleeds (52.9%), porencephaly (46%), enlarged spaces around blood vessels, (19.2%), and small infarctions (13.5%). can also contribute. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. When we didnt feel we had any options left for treatment, In cases where the mutation is inherited, the carrier parent is often clinically unaffected. Because the collagen is found throughout the body, COL4A1/A2 affects many organ systems, including the brain, kidneys, eyes, and muscles.

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