A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism

Parkinsonism Relat Disord. 2017 Apr:37:120-122. doi: 10.1016/j.parkreldis.2017.02.009. Epub 2017 Feb 9.

Authors

Gregor R Wenzel¹, Katja Lohmann², Andrea A Kühn³

Affiliations

¹ Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: [email protected].
² Institute of Neurogenetics, University of Luebeck, Maria-Goeppert-Straße 1, 23562 Luebeck, Germany. Electronic address: [email protected].
³ Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: [email protected].

PMID: 28214263
DOI: 10.1016/j.parkreldis.2017.02.009

No abstract available

Keywords: ATP1A3; DYT12; De-novo-mutation; Haplotype-analysis; RDP.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't
Video-Audio Media

MeSH terms

Adult
Dystonic Disorders / genetics*
Family Health
Humans
Male
Mutation / genetics*
Sodium-Potassium-Exchanging ATPase / genetics*

Substances

ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase

Supplementary concepts

Dystonia 12