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Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant Cover

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant

Open Access
|Sep 2026

References

  1. Mastrototaro G, Zaghi M, Massimino L, et al. TBL1XR1 Ensures Balanced Neural Development Through NCOR Complex-Mediated Regulation of the MAPK Pathway. Front Cell Dev Biol. 2021;9:641410. DOI: 10.3389/fcell.2021.641410
  2. Nagy A, Molay F, Hargadon S, et al. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects. Orphanet J Rare Dis. 2024;19(1):79. DOI: 10.1186/s13023-024-03083-3
  3. Kobayashi Y, Tohyama J, Kato M, et al. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. Brain Dev. 2016;38(3):285–292. DOI: 10.1016/j.braindev.2015.09.011
  4. Zech M, Jech R, Boesch S, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020;19(11):908–918. DOI: 10.1016/S1474-4422(20)30312-4
  5. Brüggemann N. Contemporary functional neuroanatomy and pathophysiology of dystonia. J Neural Transm (Vienna). 2021;128(4):499–508. DOI: 10.1007/s00702-021-02299-y
DOI: https://doi.org/10.5334/tohm.1242 | Journal eISSN: 2160-8288
Language: English
Page range: 51 - 51
Submitted on: May 31, 2026
Accepted on: Aug 25, 2026
Published on: Sep 3, 2026
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services

© 2026 Maximilian Johannes Löw, Felix Bernsdorff, Christiane Weinrich, Saskia Biskup, Jerome Jüngling, Christoph van Riesen, Fabian Maass, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.