Article
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Annals of clinical and translational neurology - 1 Aug 2025
Thomsen Mirja, Ott Fabian, Loens Sebastian, Kilic-Berkmen Gamze, Tan Ai Huey, Lim Shen-Yang, Lohmann Ebba, Schröder Kaja M, Ipsen Lea, Nothacker Lena A, Welzel Linn, Rudnik Alexandra S, Hinrichs Frauke, Odorfer Thorsten, Zeuner Kirsten E, Schumann Friederike, Kühn Andrea A, Zittel Simone, Moeller Marius, Pfister Robert, Kamm Christoph, Lang Anthony E, Tay Yi Wen, de Almeida Marcelino Ana Luísa, Vidailhet Marie, Roze Emmanuel, Perlmutter Joel S, Feuerstein Jeanne S, Fung Victor S C, Chang Florence, Barbano Richard L, Bellows Steven, Wagle Shukla Aparna A, Espay Alberto J, LeDoux Mark S, Berman Brian D, Reich Stephen, Deik Andres, Franke Andre, Wittig Michael, Franzenburg Sören, Volkmann Jens, Brüggemann Norbert, Jinnah H A, Bäumer Tobias, Klein Christine, Busch Hauke, Lohmann Katja
Abstract excerpt
OBJECTIVE: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex. METHODS: Exome sequencing was conducted on 1924 genetically...
Topics
- Humans
- Male
- Female
- Exome Sequencing
- Adult
- Dystonia