Low Prevalence of <scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansion in White Patients with Movement Disorders
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- Wai Yan Yau
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Jana Vandrovcova
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Zhongbo Chen
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Anna Zecchinelli
- Biobank Centro Parkinson e Parkinsonismi ASST Pini CTO Milan Italy
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- Roisin Sullivan
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Roberto Cilia
- Fondazione IRCCS Istituto Neurologico Carlo Besta, Parkinson and Movement Disorders Unit Milan Italy
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- Stefano Duga
- Department of Biomedical Sciences Humanitas University Milan Italy
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- Malgorzata Murray
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Zane Jaunmuktane
- Divison of Neuropathology National Hospital for Neurology and Neurosurgery London United Kingdom
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- Viorica Chelban
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Henry Houlden
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom
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- Chris Turner
- MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery London United Kingdom
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- Susana Carmona
- UK Dementia Research Institute (UK DRI) at UCL London United Kingdom
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- Nicholas W. Wood
- Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom
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- Hiroyuki Ishiura
- Department of Neurology The University of Tokyo Tokyo Japan
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- Shoji Tsuji
- Department of Molecular Neurology The University of Tokyo Tokyo Japan
書誌事項
- 公開日
- 2020-10-07
- 資源種別
- journal article
- 権利情報
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- http://creativecommons.org/licenses/by/4.0/
- DOI
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- 10.1002/mds.28302
- 公開者
- Wiley
この論文をさがす
説明
<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>
収録刊行物
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- Movement Disorders
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Movement Disorders 36 (1), 251-255, 2020-10-07
Wiley
