col4a1 syndrome life expectancyfacts about witches in shakespeare's time

Novel heterozygous COL4A2 variant c.2572A>G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome. 2011 Going from having seizures every day for six years to having no seizures is nothing short of a miracle. The heterozygous variant c.2228G>T [NM_001845.4(COL4A1):c.2228G>T (p.Gly743Val)] was identified in exon 30 of the COL4A1 gene. Purpose of review: The severity of the condition varies greatly among affected individuals. Gunda B, Mine M, Kovcs T, Hornyk C, Bereczki D, Vrallyay G, Rudas G, Audrezet MP, Tournier-Lasserve E. J Neurol. Neurology. (2014) 252:178994. The COL4A2 test was negative. Various treatments have been reported in the medical literature as part of single case reports or small series of patients. *Correspondence: Pasquale Scoppettuolo, Pasquale.scoppettuolo@gmail.com, https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000389182.3, Creative Commons Attribution License (CC BY). cutting tissue called the corpus callosum, then make some additional delicate doi: 10.1016/j.matbio.2016.10.003, 23. A similar term, variable expressivity, describes when affected individuals have widely varying signs and symptoms. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. doi: 10.1111/cge.12379, 13. Please enable it to take advantage of the complete set of features! (2018) 91:e207888. official website and that any information you provide is encrypted Mosaic individuals are likely less severely affected, or even asymptomatic, because they have many cells that secrete COL4A1 normally and that can compensate for those cells that cannot. Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, et al. (2014) 83:122834. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. Accessibility Bethesda, MD 20894, Web Policies Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1 -related disorders. Together, these studies suggest that certain unknown variants of COL4A1 and COL4A2 might contribute to chronic vascular dysfunction. doi: 10.1002/ana.23736, 4. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken. Molecular Dynamics Investigation on the Effects of Protonation and Lysyl Hydroxylation on Sulfilimine Cross-links in Collagen IV. GeneReviews. We provide education, advocacy, and resources for families and individuals affected. 8600 Rockville Pike Progressive cerebral atrophies in three children with COL4A1 mutations. Thirdly, bioinformatic tools and ACMG (20) classify p.Gly743Val as likely pathogenic due to the combination of the following criteria: (i) the p.Gly743Val variant is located in a mutational hotspot/or critical and well-established functional domain, (ii) the p.Gly743Val variant is absent from controls in the Exome Sequencing Project as reported by GeneDx (30), (iii) the p.Gly743Val variant is a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease, (iv) the variant p.Gly743Val has been previously reported, without phenotypic description in one other report [GeneDx Accession: SCV000531635.4 Submitted: (January 29, 2019)] and from one likely pathogenic [Undiagnosed Diseases Network, NIH Accession: SCV000926981.1 Submitted: (February 21, 2019)], and (v) which multiple lines of computational evidence support a deleterious effect on the gene product (see the Bioinfromatic Interpretation of Results). (E,F) IV-3Brain MRI showed left frontotemporal dilatation and diffusion tensor imaging (DTI) sequences demonstrated no left corticospinal tract (cranio-caudal fibers, indigo, with arrows). Neurology. Aicardi-Goutieres syndrome - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. (2006) 354:148996. Molecular genetic testing can detect variations in the COL4A1 and COL4A2 genes that cause these disorders, but is available only as a diagnostic service at specialized laboratories. The retina was collected and immunolabeled with an anti-collagen IV antibody, for reconstruction of the entire vascular network (Fig. 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. CADASIL is an acronym that stands for: (C)erebral relating to the brain (A)utosomal (D)ominant a form of inheritance in which one copy of an abnormal gene is necessary for the development of a disorder (A)rteriopathy disease of the arteries (blood vessels that carry blood away from the heart) (S)ubcortical relating to specific areas of the brain supplied by deep small arteries (I)nfarcts tissue loss in the brain caused by lack of blood flow to the brain, which occurs when circulation through the small arteries is severely reduced or interrupted (L)eukoencephalopathy lesions in the brain white matter caused by the disease and observed on MRI. 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. If either parent also carries the mutation, it is considered inherited. Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12. The COL4A1 and COL4A2 genes were screened in proband IV-6. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, In the human genome, there are 46 chromosomes. 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). PS: wrote thi paper and performed the review of the literature under the supervision of GN. 1779 Massachusetts Avenue Some of the patient advocacy organizations listed in the Resources section below provide support and information to affected individuals and their families. doi: 10.1007/s00417-014-2800-6, 12. An official website of the United States government. Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, et al. 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/. 2010;17(13):1317-24. doi: (2002) 112:198202. TTY: (866) 411-1010 1900 Crown Colony Drive It is possible that insufficient collagen in the basement membrane predisposes blood vessels in the brain to leak or rupture. To better define pathology caused by Col4a1 mutations, we characterized myopathy in two different Col4a1 mutant mouse strainsCol4a1 ex41 and Col4a1 G394V.We selected these strains from an allelic series of Col4a1 mutant mice because they showed the most severe myopathy according to NPN quantification in quadriceps while having different effects on [1(IV)] 2 2(IV) secretion. https://www.ncbi.nlm.nih.gov/pubmed/26610912. Clinically, COL4A1 mutations are responsible for different overlapping phenotypes including porencephaly (24), brain small vessel disease (2, 57) with or without ocular anomalies, HANAC (13) (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome, ophthalmological abnormalities (912), and non-syndromic autosomal dominant congenital cataracts (10). He underwent at birth neurosonography for axial hypotonia that revealed ventricular asymmetry and right frontotemporal dilatation (Figure 3). Neurology. How are genetic conditions treated or managed? 11:827. doi: 10.3389/fneur.2020.00827. One patient (IV-3) was treated for spasticity and seizures with valproic acid. (2015) 84:91826. The https:// ensures that you are connecting to the 30. 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. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. 2010 Aug;41(8):e513-8. Here we report a family in which three siblings presented severe hypermetropia and porencephaly. mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 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. After the COL4A1 mutation was found, systemic manifestations of COL4A1 mutations were investigated. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. He would separate the two halves of her brain by Urine analysis to test for blood or excess protein can be used to evaluate renal function and identify if the kidneys might be affected. Therapies are based on the specific symptoms in each individual. COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps. percent confident in Dr. Madsen and the epilepsy team. 1A-B). The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina E. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Arch Ophthalmol. People with COL4A1-related brain small vessel disease 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). 2008 May;192(5):971-84; discussion 984-6. Fax: 203-263-9938, Washington, DC Office IV-5 had microcephaly without motor deficits, a language delay, a mental retardation (IQ of 62) that required adapted schooling, and severe hypermetropia. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Fax: 203-263-9938, Washington, DC Office Copyright 2020 Scoppettuolo, Ligot, Wermenbol, Van Bogaert and Naeije. We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 mutations. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Molecular analysis was performed on a gDNA level by means of PCR amplification of all the coding exons and the flanking intron region. The information on this site should not be used as a substitute for professional medical care or advice. Rouaud T, Labauge P, Lasserve ET, Mine M, Coustans M, Deburghgraeve V, et al. COL4A1 brain small-vessel disease is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen 1-6. We described the phenotype associated to a likely pathogenic variant of the COL4A1 gene (c.2228G>T, p.Gly743Val) responsible for severe hypermetropia and familial porencephaly. Am J Med Genet A. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder make it challenging to develop a complete picture of associated symptoms and prognosis. and transmitted securely. (2020). Congenital Cephalic Disorders 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). Washington, DC 20036 The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. 2012;322:25-30. https://www.ncbi.nlm.nih.gov/pubmed/22868088, Shah S, Ellard S, Kneen R, et al. Neurol. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. doi: 10.1016/j.ejpn.2009.04.010, 27. Type IV collagen molecules attach to each other to form complex protein networks. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Disclaimer. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). For example, if the mutation arises during the formation of the sperm or the egg, then all of the cells that make up the child will carry the mutation. The first time he came to meet us, Zeeva threw a sock at him. 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). Type IV collagen molecules attach to each other to form complex protein networks. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Disease Overview. Clinical Testing and Workup Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. Dev Med Child Neurol. COL4A1/A2-related disorders are rare, genetic, multi-system disorders. Collagen type IV alpha 1 (COL4A1) silence hampers the invasion, migration and epithelial-mesenchymal transition (EMT) of gastric cancer cells through blocking Hedgehog signaling pathway. This page is currently unavailable. I cannot describe the feeling of seeing your child healed. How can gene variants affect health and development? The COL4A1 stroke syndrome. 2015;84:918-926. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351667/, Meuwissen ME, Halley DJ, Smit LS, et al. 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. Because the collagen is found throughout the body, COL4A1/A2 affects many organ systems, including the brain, kidneys, eyes, and muscles. What does it mean if a disorder seems to run in my family? COL4A1/COL4A2 gene mutations description, symptoms and the sub-diagnosis. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders. Stroke is a leading cause of death and serious long-term disability in developed nations. In the brain, intracerebral hemorrhage is the most frequent phenotype. Please note that NORD provides this information for the benefit of the rare disease community. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. No patient had cramps, cardiac symptoms, or abnormalities or Raynaud phenomenon. COL4A1/A2-related disorders follow an autosomal dominant pattern of inheritance. To use the sharing features on this page, please enable JavaScript. Not only did Dr. Madsen, help heal Zeevas brain, but he was instrumental in supporting us as we founded the Gould Syndrome Foundation, a 501(c)(3) non-profit that promotes education, advocacy, and medical advancements in Gould Syndrome, COL4A1/COL4A2 diseases. functional hemispherectomy. Mice with Col4a1 and Col4a2 gene mutations have pathology in many organs and the presence and severity of pathology in a given organ appears to depend on the location of the mutation, genetic context, and environmental interactions. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. The reference sequences were NM_001845.4 (NP_001836.2) for COL4A1 and NM_001846.2 (NP_001837.2) for COL4A2. COL4A1 disorder is probably largely underestimated because of its multisystem and variable phenotype. 55 Kenosia Avenue In the eye, patients may have retinal arteriolar tortuosities and retinal hemorrhages or anterior segment dysgenesis. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage. Another limitation is the systemic work-up based on described phenotypes and supposed affected organs. Neurology. doi: 10.1001/archneur.1983.04050080067013, 17. MedlinePlus also links to health information from non-government Web sites. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 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. Neurology. In some people, serious, life-threatening complications may occur in infancy; in others, only minor complications may occur and intelligence is unaffected. National Library of Medicine One year later, right hemiparesis became clinically evident with a lack of right voluntary hand prehension in association with right hemineglect. J Perinatol. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. Mutations in COL4A1 or COL4A2 cause Gould Syndrome and, because these two proteins are found in almost all tissues; nearly any organ can be affected. The human phenotypes are extremely variable between patients and between families, with disease onset as early as in the fetal period. (2014) 34:757. Focke JK, Veltkamp R, Bauer P, Kraemer M. J Neurol. IV-3 was diagnosed with ventriculomegaly in utero. They are typically characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting . Drugs that prevent irregular heartbeats (anti-arrhythmic medications) are used to treat supraventricular arrythmia. The strengths of our study are the extensive systemic work-up, the 5-year neurological follow-up, and the pluridisciplinary approach. Children inherit a full complement of chromosomes from each of their parent and so we carry two copies of each gene. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. doi: 10.1038/nmeth.2890, 22. Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) . doi: 10.1186/s12881-014-0097-2, 11. Your support helps to ensure everyones free access to NORDs rare disease reports. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, et al. It affects mainly young adults, children and more typically neonates. Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M GC. In the brain, intracerebral hemorrhage is the most frequent phenotype. 2018;91:e2078-e2088. These proteins have very restricted expression and Alport Syndrome primarily affects the kidneys with variable involvement of the eye and cochlea (hearing). Resource(s) for Medical Professionals and Scientists on This Disease: HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. Mutated patients develop a diffuse small vessel disease of the brain as shown by a diffuse leukoencephalopathy on MRI. Curr Opin Neurol. Berg R, Aleck A, Kaplan A. Familial porencephaly. 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). COL4A1 mutations as a monogenic cause of cerebral This study clearly demonstrates that COL4A1 and COL4A2 mutations cause clinically variable cerebrovascular disease that includes characteristic features of cerebral small vessel disease. Rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. Acute urinary retention due to a novel collagen COL4A1 mutation. The X and Y chromosomes are called the sex chromosomes and the rest all are called 'autosomes'. 55 Kenosia Avenue Early intervention is important in ensuring that children with reach their highest potential. 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. Jeanne M, Gould DB. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and review of the literature. doi: 10.1126/science.1109418, 5. Research in mice with Col4a1 mutations suggests that the position of the mutation is very important. Some people with COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Toll-free: (800) 411-1222 Stroke. Services that may be beneficial for some affected individuals include medical, social, and/or vocational services such as special remedial education. COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. (2012) 54:56974. (2011) 42:13. (2015) 88:46873. Eur J Paediatr Neurol. (2013) 73:4857. It is not uncommon for an unaffected parent to have a severely affected child. All authors contributed to the article and approved the submitted version. 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. The p.Gly743Val variant is a conservative substitution that occurs in a position highly conserved across species (SIFT analysis: DeleteriousScore 0, median: 4.22, highly conserved nucleotide and amino acid, up to Tetraodon considering 11 species) and affects a crucial and abundant residue within the triple-helix-forming collagenous domain of the protein, which consist of long stretches of Gly-X-Y repeats. 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. N Engl J Med. Other patients have been reported with cysts on the liver, irregular heartbeats (supraventricular arrhythmia), and Raynaud phenomenon, which is in which the fingers or toes become numb or have a prickly sensation in response to cold due to narrowing of blood vessels. Until just this year, her 16-year-old daughter Emily, who #1 Ranked Childrens Hospital by U. S. News & World Report. Paques M, Ronco P. Novel COL4A1 mutations associated with HANAC syndrome: a role 2010;41:e513-518. Neurology. NORD strives to open new assistance programs as funding allows. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage. IV-6 was born at 35 weeks after a pregnancy marked by gestational diabetes. In most cases, an affected person has one parent with the condition. At the age of 12, IV-3 underwent cerebral palsy quality of life (CPQoL) questionnaires in which they expressed a satisfactory quality of life and a good relationship with other children. Epub 2010 Jun 17. 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. However, these findings can be observed independently or in combinations, in many patients with COL4A1 and COL4A2 mutations. Phone: 203-263-9938 Gould Syndrome is an ultra rare genetic, multi-system disorder. Comparison of Clinical, Radiographic, and Histological Features in COL4A1 Syndrome Compared With Other Single Gene Disorders Causing SVD. COL4A1/A2-related disorders are caused by dominant mutations in the COL4A1 or COL4A2 genes. The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. Mosaicism can contribute to both reduced penetrance or variable expressivity but other factors do as well. In cases where the mutation is inherited, the carrier parent is often clinically unaffected. Neurology. 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. 2013;73:48-57. https://www.ncbi.nlm.nih.gov/pubmed/23225343, Kuo DS, Labelle-Dumais C, Gould DB. Endovascular therapy is a minimally-invasive procedure in which a long, thin tube called a catheter is passed into the blood vessel to repair or strengthen the blood vessel. Phone: 617-249-7300, Danbury, CT office HANAC syndrome is a rare condition, although the exact prevalence is unknown. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. Epub 2022 Apr 14. Zeevas brain to treat a cyst in her brain caused by porencephaly. Science. doi: 10.1111/cge.12543. The brain MRI of IV-6 disclosed a large right-sided frontoparietal cavity (Figure 3B) with communication to the lateral ventricle, isosignal to CFS. Unauthorized use of these marks is strictly prohibited. Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, et al. Comparisons may be useful for a differential diagnosis: CADASIL is a rare genetic disorder affecting the small blood vessels in the brain. my mom suggested we call Boston Childrens Hospital. These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. 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.) 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. 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. The size and location of cerebral cavities contributes to clinical variability. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. When a mutation occurs in one of these genes, the rope does not wind up properly and it stays inside the cell. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, et al. 2022 Mar 24;3:100140. doi: 10.1016/j.cccb.2022.100140. Neurology. Clinical case reports suggest a syndrome with characteristic core findings; however, much about the disorder is not fully understood. 2018;61:765-772. Participants with epilepsy frequently reported developmental delays (88.6%), stroke (60.0%), cerebral palsy (65.7%), and constipation (57.1%). Treatment trials will be critical to determine the long-term safety and effectiveness of specific medications and treatments for individuals with COL4A1/A2-related disorders.

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