Mirror Movements and Dystonia in SRD5A3-Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum

Movement Disorders Clinical PracticeVolume 10, Issue 3 p. 510-513 LETTERS: GENOTYPE AND PHENOTYPE Mirror Movements and Dystonia in SRD5A3-Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum Vikram V. Holla MD, DM, Vikram V. Holla MD, DM orcid.org/0000-0002-3634-2219 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorAnush Rangarajan MD, DM, Anush Rangarajan MD, DM Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorGautham Arunachal MD, Gautham Arunachal MD Department of Human Genetics, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorBabylakshmi Muthusamy PhD, Babylakshmi Muthusamy PhD Institute of Bioinformatics, International Technology Park, Bangalore, India Manipal Academy of Higher Education, Manipal, Karnataka, IndiaSearch for more papers by this authorNitish Kamble MD, DM, Nitish Kamble MD, DM Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorRavi Yadav MD, DM, Ravi Yadav MD, DM orcid.org/0000-0002-8016-9089 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorPramod Kumar Pal MD, DNB, DM, FRCP, Pramod Kumar Pal MD, DNB, DM, FRCP orcid.org/0000-0002-4085-2377 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorManjunath Netravathi DM, Corresponding Author Manjunath Netravathi DM [email protected] Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, India Correspondence to: Dr. Manjunath Netravathi, Professor, Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bengaluru-560029, Karnataka, India; E-mail: [email protected]Search for more papers by this author Vikram V. Holla MD, DM, Vikram V. Holla MD, DM orcid.org/0000-0002-3634-2219 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorAnush Rangarajan MD, DM, Anush Rangarajan MD, DM Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorGautham Arunachal MD, Gautham Arunachal MD Department of Human Genetics, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorBabylakshmi Muthusamy PhD, Babylakshmi Muthusamy PhD Institute of Bioinformatics, International Technology Park, Bangalore, India Manipal Academy of Higher Education, Manipal, Karnataka, IndiaSearch for more papers by this authorNitish Kamble MD, DM, Nitish Kamble MD, DM Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorRavi Yadav MD, DM, Ravi Yadav MD, DM orcid.org/0000-0002-8016-9089 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorPramod Kumar Pal MD, DNB, DM, FRCP, Pramod Kumar Pal MD, DNB, DM, FRCP orcid.org/0000-0002-4085-2377 Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, IndiaSearch for more papers by this authorManjunath Netravathi DM, Corresponding Author Manjunath Netravathi DM [email protected] Department of Neurology, National Institute of Mental Health & Neurosciences, Bengaluru, Karnataka, India Correspondence to: Dr. Manjunath Netravathi, Professor, Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bengaluru-560029, Karnataka, India; E-mail: [email protected]Search for more papers by this author First published: 21 November 2022 https://doi.org/10.1002/mdc3.13627 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 1Kamarus Jaman N, Rehsi P, Henderson RH, Lobel U, Mankad K, Grunewald S. SRD5A3-CDG: Emerging phenotypic features of an Ultrarare CDG subtype. Front Genet 2021; 12:737094. 10.3389/fgene.2021.737094 PubMedWeb of Science®Google Scholar 2Jaeken J, Lefeber DJ, Matthijs G. SRD5A3 defective congenital disorder of glycosylation: Clinical utility gene card. Eur J hum Genet 2020; 28(9): 1297–1300. 10.1038/s41431-020-0647-3 PubMedWeb of Science®Google Scholar 3Prietsch V, Peters V, Hackler R, et al. A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis 2002; 25(2): 126–130. 10.1023/A:1015628810892 CASPubMedWeb of Science®Google Scholar 4Kousal B, Honzik T, Hansikova H, et al. Review of SRD5A3 disease-causing sequence variants and ocular findings in steroid 5alpha-reductase type 3 congenital disorder of glycosylation, and a detailed new case. Folia Biol 2019; 65(3): 134–141. CASPubMedWeb of Science®Google Scholar 5Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A 2008; 146A(7): 813–819. 10.1002/ajmg.a.32114 CASPubMedWeb of Science®Google Scholar 6Mostile G, Barone R, Nicoletti A, et al. Hyperkinetic movement disorders in congenital disorders of glycosylation. Eur J Neurol 2019; 26(9): 1226–1234. 10.1111/ene.14007 CASPubMedWeb of Science®Google Scholar 7Fung W, Peall K. What is the role of the cerebellum in the pathophysiology of dystonia? J Neurol 2019; 266(6): 1549–1551. 10.1007/s00415-019-09344-7 CASPubMedWeb of Science®Google Scholar 8Mutalik SP, Gupton SL. Glycosylation in axonal guidance. Int J Mol Sci 2021; 22(10): 5143. 10.3390/ijms22105143 CASPubMedWeb of Science®Google Scholar 9Nissenkorn A, Yosovich K, Leibovitz Z, et al. Congenital Mirror movements associated with brain malformations. J Child Neurol 2021; 36(7): 545–555. 10.1177/0883073820984068 PubMedWeb of Science®Google Scholar 10Pourchet O, Morel M-P, Welniarz Q, et al. Loss of floor plate Netrin-1 impairs midline crossing of corticospinal axons and leads to mirror movements. Cell Rep 2021; 34(3):108654. 10.1016/j.celrep.2020.108654 CASPubMedWeb of Science®Google Scholar Volume10, Issue3March 2023Pages 510-513 This article also appears in:Genotype and Phenotype Letters ReferencesRelatedInformation