{"@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/1360853567858415744.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1002/mds.28302"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28302"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28302"}},{"identifier":{"@type":"URI","@value":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28302"}},{"identifier":{"@type":"PMID","@value":"33026126"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Low Prevalence of <scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansion in White Patients with Movement Disorders"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>The objective of this study was to determine the prevalence of the GGC‐repeat expansion in <jats:italic>NOTCH2NLC</jats:italic> in whites presenting with movement disorders.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We searched for the GGC‐repeat expansion in <jats:italic>NOTCH2NLC</jats:italic> using repeat‐primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with “possible” or “probable” MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeat‐primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and/or long‐read sequencing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We identified 1 patient who carried the <jats:italic>NOTCH2NLC</jats:italic> mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor/parkinsonism in the 100,000 Genomes Project.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>GGC‐repeat expansion in <jats:italic>NOTCH2NLC</jats:italic> is rare in whites presenting with movement disorders. In addition, existing whole‐genome sequencing data are useful in case ascertainment. © 2020 The Authors. <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society</jats:p></jats:sec>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380853567858415619","@type":"Researcher","foaf:name":[{"@value":"Wai Yan Yau"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415747","@type":"Researcher","foaf:name":[{"@value":"Jana Vandrovcova"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415620","@type":"Researcher","foaf:name":[{"@value":"Zhongbo Chen"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"},{"@value":"Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415618","@type":"Researcher","foaf:name":[{"@value":"Anna Zecchinelli"}],"jpcoar:affiliationName":[{"@value":"Biobank Centro Parkinson e Parkinsonismi ASST Pini CTO  Milan Italy"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415748","@type":"Researcher","foaf:name":[{"@value":"Roisin Sullivan"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415621","@type":"Researcher","foaf:name":[{"@value":"Roberto Cilia"}],"jpcoar:affiliationName":[{"@value":"Fondazione IRCCS Istituto Neurologico Carlo Besta, Parkinson and Movement Disorders Unit  Milan Italy"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415624","@type":"Researcher","foaf:name":[{"@value":"Stefano Duga"}],"jpcoar:affiliationName":[{"@value":"Department of Biomedical Sciences Humanitas University  Milan Italy"},{"@value":"IRCCS Istituto Clinico Humanitas, Rozzano  Milan Italy"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415746","@type":"Researcher","foaf:name":[{"@value":"Malgorzata Murray"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415749","@type":"Researcher","foaf:name":[{"@value":"Zane Jaunmuktane"}],"jpcoar:affiliationName":[{"@value":"Divison of Neuropathology National Hospital for Neurology and Neurosurgery  London United Kingdom"},{"@value":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415745","@type":"Researcher","foaf:name":[{"@value":"Viorica Chelban"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415622","@type":"Researcher","foaf:name":[{"@value":"Henry Houlden"}],"jpcoar:affiliationName":[{"@value":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"},{"@value":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415744","@type":"Researcher","foaf:name":[{"@value":"Chris Turner"}],"jpcoar:affiliationName":[{"@value":"MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415617","@type":"Researcher","foaf:name":[{"@value":"Susana Carmona"}],"jpcoar:affiliationName":[{"@value":"UK Dementia Research Institute (UK DRI) at UCL  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415750","@type":"Researcher","foaf:name":[{"@value":"Nicholas W. Wood"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology  London United Kingdom"},{"@value":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery  London United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751139928704","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40632849"},{"@type":"NRID","@value":"1000040632849"},{"@type":"NRID","@value":"9000414221868"},{"@type":"NRID","@value":"9000408451740"},{"@type":"NRID","@value":"9000403266089"},{"@type":"NRID","@value":"9000019188405"},{"@type":"NRID","@value":"9000258058546"},{"@type":"NRID","@value":"9000020388237"},{"@type":"NRID","@value":"9000241461693"},{"@type":"NRID","@value":"9000022066424"},{"@type":"NRID","@value":"9000404529615"},{"@type":"NRID","@value":"9000258059081"},{"@type":"NRID","@value":"9000017330523"},{"@type":"NRID","@value":"9000356596743"},{"@type":"NRID","@value":"9000258060715"},{"@type":"NRID","@value":"9000258058422"},{"@type":"NRID","@value":"9000414496019"},{"@type":"NRID","@value":"9000399240928"},{"@type":"NRID","@value":"9000326638176"},{"@type":"NRID","@value":"9000408775459"},{"@type":"NRID","@value":"9000384339934"},{"@type":"NRID","@value":"9000404830524"},{"@type":"NRID","@value":"9000414753657"},{"@type":"NRID","@value":"9000243712910"},{"@type":"NRID","@value":"9000403160127"},{"@type":"NRID","@value":"9000283542088"},{"@type":"NRID","@value":"9000397958053"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/hiroyukiishiura"}],"foaf:name":[{"@value":"Hiroyuki Ishiura"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology The University of Tokyo  Tokyo Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380853567858415616","@type":"Researcher","foaf:name":[{"@value":"Shoji Tsuji"}],"jpcoar:affiliationName":[{"@value":"Department of Molecular Neurology The University of Tokyo  Tokyo Japan"},{"@value":"Institute of Medical Genomics International University of Health and Welfare  Chiba Japan"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"08853185"},{"@type":"EISSN","@value":"15318257"}],"prism:publicationName":[{"@value":"Movement Disorders"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2020-10-07","prism:volume":"36","prism:number":"1","prism:startingPage":"251","prism:endingPage":"255"},"reviewed":"false","dc:rights":["http://creativecommons.org/licenses/by/4.0/"],"url":[{"@id":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28302"},{"@id":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28302"},{"@id":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28302"}],"createdAt":"2020-10-07","modifiedAt":"2025-10-20","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=trinucleotide%20repeat%20diseases","dc:title":"trinucleotide repeat diseases"},{"@id":"https://cir.nii.ac.jp/all?q=Essential%20Tremor","dc:title":"Essential Tremor"},{"@id":"https://cir.nii.ac.jp/all?q=Intranuclear%20Inclusion%20Bodies","dc:title":"Intranuclear Inclusion Bodies"},{"@id":"https://cir.nii.ac.jp/all?q=multiple%20system%20atrophy","dc:title":"multiple system atrophy"},{"@id":"https://cir.nii.ac.jp/all?q=610","dc:title":"610"},{"@id":"https://cir.nii.ac.jp/all?q=tremor","dc:title":"tremor"},{"@id":"https://cir.nii.ac.jp/all?q=Cohort%20Studies","dc:title":"Cohort Studies"},{"@id":"https://cir.nii.ac.jp/all?q=spinocerebellar%20ataxia","dc:title":"spinocerebellar ataxia"},{"@id":"https://cir.nii.ac.jp/all?q=Parkinson%E2%80%99s%20disease","dc:title":"Parkinson’s disease"},{"@id":"https://cir.nii.ac.jp/all?q=Prevalence","dc:title":"Prevalence"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Trinucleotide%20Repeat%20Expansion","dc:title":"Trinucleotide Repeat Expansion"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040003825719411712","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"20H03588"},{"@type":"JGN","@value":"JP20H03588"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20H03588/"}],"notation":[{"@language":"ja","@value":"ロングリードシーケンサーを活用した非コードリピート伸長病の病態解明研究"},{"@language":"en","@value":"Revealing pathogenesis of noncoding repeat expansion diseases using long-read sequencing"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360017282467727616","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360021390739126016","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Genetic Movement Disorders Commonly Seen in Asians"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292617907765888","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Integrative genomics viewer"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292621221063936","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Minimap2: pairwise alignment for nucleotide sequences"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292621468182528","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders"}]},{"@id":"https://cir.nii.ac.jp/crid/1360565167483088128","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1360568468313090432","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855570183068928","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Essential tremor with ubiquitinated Purkinje cell intranuclear inclusions"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855570807583744","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137043917238400","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Repeat expansion scanning of the <i>NOTCH2NLC</i> gene in patients with multiple system atrophy"}]},{"@id":"https://cir.nii.ac.jp/crid/1361412893243221120","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418518717256832","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418519344416512","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"MDS clinical diagnostic criteria for Parkinson's disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418519544705280","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418520186796672","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"STRetch: detecting and discovering pathogenic short tandem repeat expansions"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418521318362368","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long‐Term Follow‐up"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699994789145600","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825895144138112","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Second consensus statement on the diagnosis of multiple system atrophy"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107369130949120","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions"}]},{"@id":"https://cir.nii.ac.jp/crid/1363670319287572992","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@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"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233268741838848","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1002/mds.28302"},{"@type":"KAKEN","@value":"PRODUCT-23553017"},{"@type":"OPENAIRE","@value":"doi_dedup___::57f1644f0165a525edad6986680606a5"},{"@type":"CROSSREF","@value":"10.3389/fneur.2022.986504_references_DOI_JD4IjRGL0G8MrR8nWVgNsHwwqUy"},{"@type":"CROSSREF","@value":"10.1002/mdc3.13737_references_DOI_JD4IjRGL0G8MrR8nWVgNsHwwqUy"}]}