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June 2020; 6 (3) ArticleOpen Access

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Valter Niemelä, Ammar Salih, Daniela Solea, Björn Lindvall, Jan Weinberg, Gabriel Miltenberger, Tobias Granberg, Aikaterini Tzovla, Love Nordin, Torsten Danfors, Irina Savitcheva, Niklas Dahl, View ORCID ProfileMartin Paucar
First published April 28, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000426
Valter Niemelä
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Ammar Salih
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Daniela Solea
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Björn Lindvall
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Jan Weinberg
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Gabriel Miltenberger
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Tobias Granberg
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Aikaterini Tzovla
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Love Nordin
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Torsten Danfors
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Irina Savitcheva
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Niklas Dahl
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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Martin Paucar
From the Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
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  • ORCID record for Martin Paucar
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Citation
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
Valter Niemelä, Ammar Salih, Daniela Solea, Björn Lindvall, Jan Weinberg, Gabriel Miltenberger, Tobias Granberg, Aikaterini Tzovla, Love Nordin, Torsten Danfors, Irina Savitcheva, Niklas Dahl, Martin Paucar
Neurol Genet Jun 2020, 6 (3) e426; DOI: 10.1212/NXG.0000000000000426

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    Figure 1. Neuroimaging findings in chorea-achantocytosis

    Axial T2-weighted FLAIR MRI of patient 3 (at age 46 years) shows a pronounced atrophy of the caudate nuclei and putamina and increased signal intensity from the putamina (arrows) (A) DaTscan SPECT and fluorodeoxyglucose PET in the same patient at age 43 years demonstrate very low DAT density in both putamen (B, arrows) respectively severe hypometabolism in the striata (C, arrows). DAT = dopamine transporter; FLAIR = fluid-attenuated inversion recovery.

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  • Video 1

    These recordings illustrate the course of disease for patient 1. Segment 1, recorded at age 39 years, displays feeding dystonia but normal speech. In addition, there is mild slowness when he performs alternating hand movements and finger taps. Intermittent truncal chorea is also mild. Dystonia in the right leg, and induced by walking, is also evident. Walking backward overcomes leg dystonia completely. Five years later (segment 2), the patient is basically bound to a wheelchair and displays dystonic movements in his right arm induced by action. Truncal chorea is more pronounced, and the patient displays marked bradykinesia. In addition, the patient can barely perform alternating hand movements, and his speech is barely intelligible. However, he is able to navigate an electric wheelchair. Buckling of the right leg is pronounced, and the patient needs constant support to walk even very short distances.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000426_Video_1

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