ArticleNeurology. Genetics2024
Novel Biallelic Synonymous Exonic Variant in
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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. Cited by 1 paper.
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1citing papers in PubMed
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1 citing paper in PubMed.
- Clinical and Genetic Spectrum ofTremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
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Authors and funding
11 authors.
Rebecca Hui Min HoeFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0003-3002-6677
Yi ZhaoFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-3839-6499
Helen Lisa OngFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-9472-7969
Karine Su Shan TayFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0009-0002-3886-4923
Nigel Choon Kiat TanFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.
Mikaelea Jia Yi KhorFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.
Bingwen Eugene FanFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0003-4367-5182
Kevin PeikertFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-0845-2453
Andreas HermannFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-7364-7791
Shermyn NeoFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-3362-2717
Zhiyong ChenFrom the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.ORCID https://orcid.org/0000-0002-3086-8631
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Chorea-acanthocytosis is an autosomal recessively inherited condition caused by loss-of-function pathogenic variants in Methods: A patient with focal epilepsy developed generalized chorea with orolingual dystonia, cognitive decline, and peripheral neuropathy, consistent with chorea-acanthocytosis. Her parents were first cousins, but there was otherwise no family history. Targeted gene sequencing for variants in Results: A homozygous synonymous variant in exon 41 of Discussion: The variant is reclassified as likely pathogenic based on the American College of Medical Genetics criteria. This is the first reported case of ChAc caused by a synonymous variant in
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