ArticleNeurology. Genetics2024
Prevalence and Characterization of
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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10citing papers in PubMed
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Who cites it
10 citing papers in PubMed.
- Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights.Nature communications · 2026Article
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.NPJ genomic medicine · 2025Article
- Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.Journal of clinical neurology (Seoul, Korea) · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.BMC medical genomics · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.NPJ genomic medicine · 2024Article
- Erratum: Prevalence and Characterization ofNeurology. Genetics · 2024Article
- Screening GGC repeat expansion in theAlzheimer's & dementia (Amsterdam, Netherlands)Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors.
Seungbok LeeFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Jihoon G YoonFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0002-4401-7803
Juhyeon HongFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0009-0009-2070-3022
Taekeun KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0009-0001-5303-0444
Narae KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Jana VandrovcovaFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Wai Yan YauFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0001-6284-9163
Jaeso ChoFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0002-2479-3856
Sheehyun KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Man Jin KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Soo Yeon KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Soon-Tae LeeFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0003-4767-7564
Kon ChuFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Sang Kun LeeFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Han-Joon KimFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0001-8219-9663
Jungmin ChoiFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0002-8614-0973
Jangsup MoonFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.ORCID https://orcid.org/0000-0003-1282-4528
Jong-Hee ChaeFrom the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: GGC repeat expansions in the Methods: We conducted a study using 2 different cohorts from the Korean population. Patients with available brain MRI scans from Seoul National University Hospital (SNUH) were thoroughly reviewed, and NIID-suspected patients presenting the zigzag edging signs underwent genetic evaluation for Results: In the SNUH cohort, among 90 adult-onset leukoencephalopathy patients with unknown etiologies, we found 20 patients with zigzag edging signs. Except for 2 diagnosed with fragile X-associated tremor/ataxia syndrome and 2 with unavailable samples, all 16 patients (17.8%) were diagnosed with NIID (repeat range: 87-217). By analyzing the Korea Biobank cohort, we estimated the distribution of repeat counts and threshold (>64) for Koreans, identifying 6 potential patients with NIID. Furthermore, long-read sequencing enabled the elucidation of transmission and epigenetic patterns of Discussion: This study presents the population-wide distribution of
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