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Atypical presentations of DYT1 dystonia with acute craniocervical onset

P. Pavelekova, R. Jech, M. Zech, A. Krepelova, V. Han, A. Mosejova, Z. Liba, D. Urgosik, Z. Gdovinova, P. Havrankova, A. Fecikova, J. Winkelmann, M. Skorvanek

. 2021 ; 83 (-) : 54-55. [pub] 20210113

Language English Country Great Britain

Document type Case Reports, Letter, Research Support, Non-U.S. Gov't

DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.

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$a Jech, R $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
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$a Zech, M $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany
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$a Krepelova, A $u Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
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$a Han, V $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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$a Liba, Z $u Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
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$a Urgosik, D $u Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic
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$a Gdovinova, Z $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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$a Havrankova, P $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
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$a Fecikova, A $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic
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$a Winkelmann, J $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
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