SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies

Movement DisordersVolume 39, Issue 3 p. 457-461 EDITORIAL SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies Laura Ivete Rudaks MBBS, FRACP, MMed, Corresponding Author Laura Ivete Rudaks MBBS, FRACP, MMed [email protected] orcid.org/0000-0002-1100-319X Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia Clinical Genetics Unit, Royal North Shore Hospital, St Leonards, Australia Correspondence to: Dr. Laura Ivete Rudaks and Dr. Kishore Raj Kumar, Molecular Medicine Laboratory, Concord Repatriation General Hospital, Hospital Road, Concord, NSW 2139, Australia; E-mail: [email protected] and [email protected]Search for more papers by this authorDennis Yeow BSc, FRACP, MBBS, Dennis Yeow BSc, FRACP, MBBS orcid.org/0000-0001-7534-7007 Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia Neurodegenerative Service, Prince of Wales Hospital, Randwick, Australia Neuroscience Research Australia, Randwick, AustraliaSearch for more papers by this authorKishore Raj Kumar MBBS, FRACP, PhD, Corresponding Author Kishore Raj Kumar MBBS, FRACP, PhD [email protected] orcid.org/0000-0003-3482-6962 Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia St Vincent's Healthcare Campus, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Darlinghurst, Australia Correspondence to: Dr. Laura Ivete Rudaks and Dr. Kishore Raj Kumar, Molecular Medicine Laboratory, Concord Repatriation General Hospital, Hospital Road, Concord, NSW 2139, Australia; E-mail: [email protected] and [email protected]Search for more papers by this author Laura Ivete Rudaks MBBS, FRACP, MMed, Corresponding Author Laura Ivete Rudaks MBBS, FRACP, MMed [email protected] orcid.org/0000-0002-1100-319X Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia Clinical Genetics Unit, Royal North Shore Hospital, St Leonards, Australia Correspondence to: Dr. Laura Ivete Rudaks and Dr. Kishore Raj Kumar, Molecular Medicine Laboratory, Concord Repatriation General Hospital, Hospital Road, Concord, NSW 2139, Australia; E-mail: [email protected] and [email protected]Search for more papers by this authorDennis Yeow BSc, FRACP, MBBS, Dennis Yeow BSc, FRACP, MBBS orcid.org/0000-0001-7534-7007 Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia Neurodegenerative Service, Prince of Wales Hospital, Randwick, Australia Neuroscience Research Australia, Randwick, AustraliaSearch for more papers by this authorKishore Raj Kumar MBBS, FRACP, PhD, Corresponding Author Kishore Raj Kumar MBBS, FRACP, PhD [email protected] orcid.org/0000-0003-3482-6962 Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia St Vincent's Healthcare Campus, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Darlinghurst, Australia Correspondence to: Dr. Laura Ivete Rudaks and Dr. Kishore Raj Kumar, Molecular Medicine Laboratory, Concord Repatriation General Hospital, Hospital Road, Concord, NSW 2139, Australia; E-mail: [email protected] and [email protected]Search for more papers by this author First published: 25 March 2024 https://doi.org/10.1002/mds.29738 Relevant conflicts of interest/financial disclosures: No funding was received for the work presented here. The authors declare that there are no conflicts of interest relevant to this work. Funding agency: Nothing to report. 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 Open Research Data Availability Statement Data sharing not applicable to this article as no datasets were generated or analysed during the current study. References 1Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics. Acta Neuropathol Commun 2021; 9: 98. 10.1186/s40478-021-01201-x PubMedWeb of Science®Google Scholar 2Mantere T, Kersten S, Hoischen A. Long-read sequencing emerging in medical genetics. Front Genet 2019; 10: 426. 10.3389/fgene.2019.00426 CASPubMedWeb of Science®Google Scholar 3Chen Z, Gustavsson EK, Macpherson H, et al. Adaptive long-read sequencing reveals GGC repeat expansion in ZFHX3 associated with spinocerebellar ataxia type 4. Mov Disord 2024; 39(3): 486–497. 10.1002/mds.29704 Google Scholar 4Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996; 59: 392–399. CASPubMedWeb of Science®Google Scholar 5Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J Neurol 2003; 250: 668–671. 10.1007/s00415-003-1052-x CASPubMedWeb of Science®Google Scholar 6Hellenbroich Y, Pawlack H, Rub U, et al. Spinocerebellar ataxia type 4. Investigation of 34 candidate genes. J Neurol 2005; 252: 1472–1475. 10.1007/s00415-005-0892-y CASPubMedGoogle Scholar 7Wallenius J, Kafantari E, Jhaveri E, et al. Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: a poly-glycine disease. Am J Hum Genet 2024; 111: 82–95. 10.1016/j.ajhg.2023.11.008 CASPubMedGoogle Scholar 8Figueroa KP, Gross C, Atienza EB, et al. GGC expansion in ZFHX3 causes SCA4 and impairs autophagy. medRxiv 2023 [Preprint]. PubMedGoogle Scholar 9Maschke M, Oehlert G, Xie TD, et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 2005; 20: 1405–1412. 10.1002/mds.20533 CASPubMedWeb of Science®Google Scholar 10Hellenbroich Y, Gierga K, Reusche E, et al. Spinocerebellar ataxia type 4 (SCA4): initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. J Neural Transm (Vienna) 2006; 113: 829–843. 10.1007/s00702-005-0362-9 CASPubMedWeb of Science®Google Scholar 11Boivin M, Deng J, Pfister V, et al. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron 2021; 109: 1825–1835.e5. 10.1016/j.neuron.2021.03.038 CASPubMedWeb of Science®Google Scholar 12Baca MDRP, Jacobs EZ, Vantomme L, et al. A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene. medRxiv 2023 [Preprint]. PubMedGoogle Scholar 13Benjamin EJ, Rice KM, Arking DE, et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet 2009; 41: 879–881. 10.1038/ng.416 CASPubMedWeb of Science®Google Scholar 14Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry 2009; 80: 408–411. 10.1136/jnnp.2008.159459 CASPubMedWeb of Science®Google Scholar 15Jiang H, Zhu H-P, Gomez CM. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33 (Abstract). Mov Disord 2010; 25: S192. Google Scholar Volume39, Issue3March 2024Pages 457-461 ReferencesRelatedInformation