Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia

Mov Disord Clin Pract. 2017 Dec 3;5(1):89-91. doi: 10.1002/mdc3.12564. eCollection 2018 Jan-Feb.

Ján Necpál¹, Michael Zech^{2

3}, Matej Škorvánek⁴, Petra Havránková⁵, Anna Fečíková⁵, Juliane Winkelmann^{2

3

6

7}, Robert Jech⁵

¹ Department of Neurology Zvolen Hospital Zvolen Slovakia.
² Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.
³ Klinik und Poliklinik für Neurologie Klinikum rechts der Isar Technische Universität München Munich Germany.
⁴ Department of Neurology Safarik University Kosice Slovakia.
⁵ Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
⁶ Institut für Humangenetik Technische Universität München Munich Germany.
⁷ Munich Cluster for Systems Neurology SyNergy Munich Germany.

Abstract

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312564-sup-v001_1.htm.

Keywords: ataxia telangiectasia; case report; compound heterozygote; isolated segmental dystonia.