Title: A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation
Abstract: Movement Disorders Clinical PracticeVolume 10, Issue 2 p. 331-334 LETTERS: GENOTYPE AND PHENOTYPE A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation Narges Hashemi MD, Corresponding Author Narges Hashemi MD [email protected] [email protected] orcid.org/0000-0002-1767-7873 Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Correspondence to: Dr. Narges Hashemi, Assistant Professor of Pediatric Neurology, Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Ahmadabad Street, Ghaem Hospital, Pediatric Ward, 9176699199, Mashhad, Iran; E-mail: [email protected] and [email protected]Search for more papers by this authorReza Nejad Shahrokh Abadi MD, Reza Nejad Shahrokh Abadi MD Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorAfagh Alavi PhD, Afagh Alavi PhD Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranSearch for more papers by this authorAli Reza Tavasoli MD, Ali Reza Tavasoli MD Pediatric Neurology Division, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USASearch for more papers by this authorMohammad Rohani MD, Mohammad Rohani MD Department of Neurology, Rasool Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, IranSearch for more papers by this author Narges Hashemi MD, Corresponding Author Narges Hashemi MD [email protected] [email protected] orcid.org/0000-0002-1767-7873 Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Correspondence to: Dr. Narges Hashemi, Assistant Professor of Pediatric Neurology, Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Ahmadabad Street, Ghaem Hospital, Pediatric Ward, 9176699199, Mashhad, Iran; E-mail: [email protected] and [email protected]Search for more papers by this authorReza Nejad Shahrokh Abadi MD, Reza Nejad Shahrokh Abadi MD Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorAfagh Alavi PhD, Afagh Alavi PhD Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranSearch for more papers by this authorAli Reza Tavasoli MD, Ali Reza Tavasoli MD Pediatric Neurology Division, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USASearch for more papers by this authorMohammad Rohani MD, Mohammad Rohani MD Department of Neurology, Rasool Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, IranSearch for more papers by this author First published: 19 November 2022 https://doi.org/10.1002/mdc3.13624 Relevant disclosures and conflicts of interest are listed at the end of this article. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Tonekaboni SH, Mollamohammadi M. Neurodegeneration with brain iron accumulation: An overview. Iran J child Neurol 2014; 8(4): 1–8. PubMedGoogle Scholar 2Kolarova H, Tan J, Strom TM, Meitinger T, Wagner M, Klopstock T. Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine 2022; 77:103869. https://doi.org/10.1016/j.ebiom.2022.103869. 10.1016/j.ebiom.2022.103869 CASPubMedWeb of Science®Google Scholar 3Hajati R, Emamikhah M, Danaee Fard F, Rohani M, Alavi A. Neurodegeneration with brain iron accumulation and a brief report of the disease in Iran. Can J Neurol Sci 2021; 49: 338–351. https://doi.org/10.1017/cjn.2021.124. 10.1017/cjn.2021.124 PubMedWeb of Science®Google Scholar 4Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol 2018; 147: 293–305. https://doi.org/10.1016/B978-0-444-63233-3.00019-1. 10.1016/B978-0-444-63233-3.00019-1 PubMedGoogle Scholar 5Hogarth P. Neurodegeneration with brain iron accumulation: Diagnosis and management. J Mov Disord 2015; 8(1): 1–13. https://doi.org/10.14802/jmd.14034. 10.14802/jmd.14034 PubMedWeb of Science®Google Scholar 6Evers C, Seitz A, Assmann B, et al. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. Am J Med Genet A 2017; 173(7): 1878–1886. https://doi.org/10.1002/ajmg.a.38252. 10.1002/ajmg.a.38252 CASPubMedWeb of Science®Google Scholar 7Dusi S, Valletta L, Haack TB, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet 2014; 94(1): 11–22. https://doi.org/10.1016/j.ajhg.2013.11.008. 10.1016/j.ajhg.2013.11.008 CASPubMedWeb of Science®Google Scholar 8Arber CE, Li A, Houlden H, Wray S. Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: Unifying theories. Neuropathol Appl Neurobiol 2016; 42(3): 220–241. https://doi.org/10.1111/nan.12242. 10.1111/nan.12242 CASPubMedWeb of Science®Google Scholar 9Ma K, Mcneill A, Lin J-P, Er M. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol 2011; 53(5): 394–404. https://doi.org/10.1111/j.1469-8749.2011.03955.x. 10.1111/j.1469-8749.2011.03955.x PubMedWeb of Science®Google Scholar 10Lehéricy S, Roze E, Goizet C, Mochel F. MRI of neurodegeneration with brain iron accumulation. Curr Opin Neurol 2020; 33(4): 462–473. 10.1097/WCO.0000000000000844 PubMedWeb of Science®Google Scholar Volume10, Issue2February 2023Pages 331-334 This article also appears in:Genotype and Phenotype Letters ReferencesRelatedInformation