{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1363670319287572992.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1002/mds.28105"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.28105"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28105"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28105"}},{"identifier":{"@type":"URI","@value":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28105"}}],"dc:title":[{"@value":"Rapid Diagnosis of Spinocerebellar Ataxia 36 in a\n                    <scp>Three‐Generation</scp>\n                    Family Using\n                    <scp>Short‐Read Whole‐Genome</scp>\n                    Sequencing Data"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title>\n                  <jats:sec>\n                    <jats:title>Background</jats:title>\n                    <jats:p>Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole‐genome sequencing (WGS) feasible.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives</jats:title>\n                    <jats:p>The objective of this study was to determine the genetic basis of ataxia in a multigenerational Australian pedigree with autosomal‐dominant inheritance.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results</jats:title>\n                    <jats:p>\n                      WGS was performed on 3 affected relatives. The sequence data were screened for known pathogenic REs using 2 RE detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (<5 days from receiving the sequencing data) of spinocerebellar ataxia 36, a rare form of ataxia caused by an intronic GGCCTG RE in\n                      <jats:italic>NOP56</jats:italic>\n                      .\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions</jats:title>\n                    <jats:p>The diagnosis of rare ataxias caused by REs is highly feasible and cost‐effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost‐effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia. © 2020 International Parkinson and Movement Disorder Society</jats:p>\n                  </jats:sec>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1383670319287573000","@type":"Researcher","foaf:name":[{"@value":"Haloom Rafehi"}],"jpcoar:affiliationName":[{"@value":"Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria Australia"},{"@value":"Department of Medical Biology University of Melbourne  Melbourne Victoria Australia"},{"@value":"Epilepsy Research Centre University of Melbourne, Austin Health  Melbourne Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572995","@type":"Researcher","foaf:name":[{"@value":"David J. Szmulewicz"}],"jpcoar:affiliationName":[{"@value":"Cerebellar Ataxia Clinic, Neuroscience Department Alfred Health  Melbourne Victoria Australia"},{"@value":"Balance Disorders and Ataxia Service, Royal Victorian Eye & Ear Hospital  East Melbourne Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572996","@type":"Researcher","foaf:name":[{"@value":"Kate Pope"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute  Parkville Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572993","@type":"Researcher","foaf:name":[{"@value":"Mathew Wallis"}],"jpcoar:affiliationName":[{"@value":"Tasmanian Clinical Genetics Service, Tasmanian Health Service  Tasmania Australia"},{"@value":"School of Medicine and Menzies Institute for Medical Research, University of Tasmania  Tasmania Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572992","@type":"Researcher","foaf:name":[{"@value":"John Christodoulou"}],"jpcoar:affiliationName":[{"@value":"Brain and Mitochondrial Research Group, Murdoch Children's Research Institute  Parkville Victoria Australia"},{"@value":"Department of Pediatrics The University of Melbourne  Parkville Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572997","@type":"Researcher","foaf:name":[{"@value":"Susan M. White"}],"jpcoar:affiliationName":[{"@value":"Department of Pediatrics The University of Melbourne  Parkville Victoria Australia"},{"@value":"Victorian Clinical Genetics Services  Parkville Victoria Australia"},{"@value":"Murdoch Children's Research Institute  Parkville Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572999","@type":"Researcher","foaf:name":[{"@value":"Martin B. Delatycki"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute  Parkville Victoria Australia"},{"@value":"Department of Pediatrics The University of Melbourne  Parkville Victoria Australia"},{"@value":"Victorian Clinical Genetics Services  Parkville Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572994","@type":"Researcher","foaf:name":[{"@value":"Paul J. Lockhart"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute  Parkville Victoria Australia"},{"@value":"Department of Pediatrics The University of Melbourne  Parkville Victoria Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319287572998","@type":"Researcher","foaf:name":[{"@value":"Melanie Bahlo"}],"jpcoar:affiliationName":[{"@value":"Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria Australia"},{"@value":"Department of Medical Biology University of Melbourne  Melbourne Victoria Australia"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"08853185"},{"@type":"EISSN","@value":"15318257"}],"prism:publicationName":[{"@value":"Movement Disorders"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2020-05-14","prism:volume":"35","prism:number":"9","prism:startingPage":"1675","prism:endingPage":"1679"},"reviewed":"false","dc:rights":["http://onlinelibrary.wiley.com/termsAndConditions#vor"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.28105"},{"@id":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28105"},{"@id":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28105"},{"@id":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28105"}],"createdAt":"2020-05-14","modifiedAt":"2025-10-20","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360853567858415744","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Low Prevalence of <scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansion in White Patients with Movement Disorders"}]},{"@id":"https://cir.nii.ac.jp/crid/1360861707143252608","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1002/mds.28105"},{"@type":"CROSSREF","@value":"10.1002/mds.28302_references_DOI_JsqSHskKKaWbjIvmMzeeHgxPHfR"},{"@type":"CROSSREF","@value":"10.1212/nxg.0000000000000682_references_DOI_JsqSHskKKaWbjIvmMzeeHgxPHfR"}]}