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Paroxysmal Hyperkinesia with Diurnal Fluctuations Due to Sepiapterin-Reductase Deficiency Tina Mainka, Jessica Hoffmann, Andrea A

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Paroxysmal Hyperkinesia with Diurnal Fluctuations Due to Sepiapterin-Reductase Deficiency Tina Mainka, Jessica Hoffmann, Andrea A Published Ahead of Print on June 26, 2020 as 10.1212/WNL.0000000000009901 RESIDENT & FELLOW SECTION Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency Tina Mainka, MD, Jessica Hoffmann, Andrea A. Kuhn,¨ MD, Saskia Biskup, MD, and Christos Ganos, MD Correspondence Dr. Ganos Neurology 2020;95:1-e3. doi:10.1212/WNL.0000000000009901 ® [email protected] A 42-year-old man, born of consanguineous parents, presented with long-standing severe, MORE ONLINE nonepileptic jerky movements of the upper body, pronounced during the second half of the day Video and improving after sleep (video, A and B). There was a history of neurodevelopmental disorder with axial hypotonia, delayed milestones, intellectual disability, and poor speech Teaching slides production. The combination of a neurodevelopmental syndrome and a movement disorder links.lww.com/WNL/ with diurnal fluctuations1 led to targeted exome sequencing for monoamine metabolism dis- B131 orders. A homozygous nonsense variant in the SPR gene was identified (figure), confirmed by Sanger sequencing (figure). Treatment with levodopa led to marked improvement of abnormal movements (video, C). Acknowledgment The authors thank the patient for his participation and support. Study funding Academic research support from the VolkswagenStiftung (Freigeist Fellowship; C. Ganos). Disclosure T. Mainka, J. Hoffmann, A.A. K¨uhn,S. Biskup, and C. Ganos report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures. From the Department of Neurology (T.M., A.A.K., C.G.), Charit´e University Medicine Berlin; Berlin Institute of Health (T.M.); and Center for Genomics and Transcriptomics (J.H., S.B.), Tubingen,¨ Germany. Go to Neurology.org/N for full disclosures. Copyright © 2020 American Academy of Neurology 1 Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. Figure Genetic analysis (A) Identification of the homozygous nonsense variant p. Gly173* in the SPR gene using whole exome sequencing. (B) Confirmation of the identified nonsense variant in SPR by Sanger sequencing. 2 Neurology | Volume 95, Number 3 | July 21, 2020 Neurology.org/N Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. Appendix Authors Appendix (continued) Name Location Contribution Name Location Contribution Tina Department of Neurology, Clinical assessment of the Saskia Center for Genomics and Genetic analysis, interpretation Mainka, Charit´e University Medicine patient, collection and Biskup, Transcriptomics, Tubingen,¨ of genetic analysis, drafting the MD Berlin; Berlin Institute of editing of video material, MD Germany manuscript for intellectual Health, Germany interpretation of genetic content analysis, drafting the manuscript Christos Department of Neurology, Clinical assessment of the Ganos, Charit´e University Medicine patient, collection and editing of Jessica Center for Genomics and Genetic analysis, MD Berlin, Germany video material, interpretation Hoffmann Transcriptomics, Tubingen,¨ interpretation of genetic of genetic analysis, drafting the Germany analysis, drafting the manuscript manuscript Andrea A. Department of Neurology, Interpretation of genetic Kuhn,¨ MD Charit´e University analysis, drafting the Medicine Berlin, manuscript Reference fi Germany 1. Friedman J, Roze E, Abdenur JE, et al. Sepiapterin reductase de ciency: a treatable mimic of cerebral palsy. Ann Neurol 2012;71:520–530. Neurology.org/N Neurology | Volume 95, Number 3 | July 21, 2020 3 Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency Tina Mainka, Jessica Hoffmann, Andrea A. Kühn, et al. Neurology published online June 26, 2020 DOI 10.1212/WNL.0000000000009901 This information is current as of June 26, 2020 Updated Information & including high resolution figures, can be found at: Services http://n.neurology.org/content/early/2020/06/26/WNL.0000000000009 901.full Subspecialty Collections This article, along with others on similar topics, appears in the following collection(s): All Genetics http://n.neurology.org/cgi/collection/all_genetics Developmental disorders http://n.neurology.org/cgi/collection/developmental_disorders Dystonia http://n.neurology.org/cgi/collection/dystonia Metabolic disease (inherited) http://n.neurology.org/cgi/collection/metabolic_disease_inherited Permissions & Licensing Information about reproducing this article in parts (figures,tables) or in its entirety can be found online at: http://www.neurology.org/about/about_the_journal#permissions Reprints Information about ordering reprints can be found online: http://n.neurology.org/subscribers/advertise Neurology ® is the official journal of the American Academy of Neurology. Published continuously since 1951, it is now a weekly with 48 issues per year. Copyright © 2020 American Academy of Neurology. All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X..
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