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

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.

PMID: 38775934
PMCID: PMC11233361
DOI: 10.1007/s00415-024-12447-5

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

Elisabetta Indelicato et al. J Neurol. 2024 Jul.

. 2024 Jul;271(7):4685-4692.

doi: 10.1007/s00415-024-12447-5. Epub 2024 May 22.

Authors

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.

PMID: 38775934
PMCID: PMC11233361
DOI: 10.1007/s00415-024-12447-5

No abstract available

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Conflict of interest statement

The authors have no competing interests to declare that are relevant to the content of this article.

References

1. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–873. doi: 10.1002/MDS.25475. - DOI - PMC - PubMed
1. Dzinovic I, Boesch S, Škorvánek M, et al. Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes. Park Relat Disord. 2022;102:1–6. doi: 10.1016/j.parkreldis.2022.07.003. - DOI - PubMed
1. Jinnah HA, Sun YV. Dystonia genes and their biological pathways. Neurobiol Dis. 2019 doi: 10.1016/j.nbd.2019.05.014. - DOI - PubMed
1. Zech M, Jech R, Boesch S, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020;19:908–918. doi: 10.1016/S1474-4422(20)30312-4. - DOI - PMC - PubMed
1. Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson’s disease. Lancet Neurol. 2020;19:170–178. doi: 10.1016/S1474-4422(19)30287-X. - DOI - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Conflict of interest statement

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical