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Pavelekova, P.* ; Jech, R.* ; Zech, M. ; Krepelova, A.* ; Han, V.* ; Mosejova, A.* ; Liba, Z.* ; Urgošík, D.* ; Gdovinova, Z.* ; Havránková, P.* ; Fečíková, A.* ; Winkelmann, J. ; Škorvánek, M.*

Atypical presentations of DYT1 dystonia with acute craniocervical onset.

Parkinsonism Relat. Disord. 83, 54-55 (2021)

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Open Access Green as soon as Postprint is submitted to ZB.

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Acute Onset ; Acute-onset Dystonia ; Atypical Dyt1 ; Dyt1 ; Rapid-onset Dystonia ; Tor1a; Phenotypes

ISSN (print) / ISBN 1353-8020

e-ISSN 1873-5126

Journal Parkinsonism & Related Disorders

Quellenangaben Volume: 83, Pages: 54-55

Publisher Elsevier

Publishing Place The Boulevard, Langford Lane, Kidlington, Oxford Ox5 1gb, Oxon, England

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants Helmholtz Center Munich, Germany
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany
Czech Ministry of Education
MH CZ - DRO University Hospital Motol
Ministry of Health of the Czech Republic (AZV)
Slovak Research and Development Agency