Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients

Elisabetta Indelicato; Lea D Schlieben; Sarah L Stenton; Sylvia Boesch; Matej Skorvanek; Jan Necpal; Robert Jech; Juliane Winkelmann; Holger Prokisch; Michael Zech

doi:10.1007/s00415-024-12447-5

Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients

J Neurol. 2024 Jul;271(7):4685-4692. doi: 10.1007/s00415-024-12447-5. Epub 2024 May 22.

Authors

Elisabetta Indelicato^#^{1

2

3}, Lea D Schlieben^#^{1

2}, Sarah L Stenton^{4

5}, Sylvia Boesch³, Matej Skorvanek^{6

7}, Jan Necpal^{8

9}, Robert Jech¹⁰, Juliane Winkelmann^{1

2

11}, Holger Prokisch^#^{1

2}, Michael Zech^#^{12

13

14}

Affiliations

¹ Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.
² Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.
³ Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
⁴ Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
⁵ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.
⁶ Department of Neurology, P. J. Safarik University, Kosice, Slovakia.
⁷ Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia.
⁸ 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
⁹ Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
¹⁰ Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 121 08, Prague, Czech Republic.
¹¹ Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
¹² Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany. michael.zech@mri.tum.de.
¹³ Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany. michael.zech@mri.tum.de.
¹⁴ Institute for Advanced Study, Technical University of Munich, Lichtenbergstrasse 2 a, 85748, Garching, Germany. michael.zech@mri.tum.de.

^# Contributed equally.

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Adult
Dystonia* / diagnosis
Dystonia* / genetics
Female
Humans
Male
Middle Aged
Mitochondrial Diseases* / diagnosis
Mitochondrial Diseases* / genetics
Movement Disorders / diagnosis
Movement Disorders / genetics
Movement Disorders / physiopathology
Mutation