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Thomsen, M.* ; Lange, L.M.* ; Zech, M. ; Lohmann, K.*

Genetics and pathogenesis of dystonia.

Annu. Rev. Pathol.-Mech. Dis. 19, 99-131 (2023)
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Dystonia is a clinically and genetically highly heterogeneous neurological disorder characterized by abnormal movements and postures caused by involuntary sustained or intermittent muscle contractions. A number of groundbreaking genetic and molecular insights have recently been gained. While they enable genetic testing and counseling, their translation into new therapies is still limited. However, we are beginning to understand shared pathophysiological pathways and molecular mechanisms. It has become clear that dystonia results from a dysfunctional network involving the basal ganglia, cerebellum, thalamus, and cortex. On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal dopamine signaling (e.g., GNAL), endoplasmic reticulum stress response (e.g., EIF2AK2, PRKRA, TOR1A), autophagy (e.g., VPS16), and others. Thus, different forms of dystonia can be molecularly grouped, which may facilitate treatment development in the future. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 19 is January 2024. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Dystonia ; Genetics ; Molecular Pathways ; Pathophysiology; Movement-disorders; Myoclonus-dystonia; Basal Ganglia; Intellectual Disability; 3-nitropropionic Acid; Nuclear-envelope; Dyt1 Dystonia; Cell Biology; Taf1 Gene; Mutations
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 1553-4006
e-ISSN 1553-4014
Zeitschrift Annual Review of Pathology: Mechanisms of Disease
Quellenangaben Band: 19, Heft: , Seiten: 99-131 Artikelnummer: , Supplement: ,
Verlag Annual Reviews
Verlagsort 4139 El Camino Way, Po Box 10139, Palo Alto, Ca 94303-0139 Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen German Research Foundation
PreDYT by the European Joint Programme on Rare Diseases (Joint Transnational Call 2022)
German Federal Ministry of Education and Research
Bachmann-Strauss Dystonia & Parkinson's Foundation
DOI 10.1146/annurev-pathmechdis-051122-110756
WOS ID 001153293300005
Scopus ID 85183459784
PubMed ID 37738511
Erfassungsdatum 2023-11-28
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