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Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation Cover

Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation

Open Access
|Aug 2023

References

  1. Lange LM, Junker J, Loens S, et al. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021; 36(5): 10861103. DOI: 10.1002/mds.28485
  2. Tisch S, Kumar KR. Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. Front Neurol. 2020; 11: 630391. DOI: 10.3389/fneur.2020.630391
  3. Krause P, Bruggemann N, Volzmann S, et al. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol. 2015; 262(12): 27392744. DOI: 10.1007/s00415-015-7908-z
  4. Panov F, Tagliati M, Ozelius LJ, et al. Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry. 2012; 83(2): 182187. DOI: 10.1136/jnnp-2011-300979
  5. Oterdoom DLM, van Egmond ME, Ascencao LC, et al. Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia. Tremor Other Hyperkinet Mov (N Y). 2018; 8: 530. DOI: 10.5334/tohm.409
  6. Bruggemann N, Kuhn A, Schneider SA, et al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015; 84(9): 895903. DOI: 10.1212/WNL.0000000000001312
  7. Danielsson A, Carecchio M, Cif L, et al. Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. J Clin Med. 2019; 8(12). 2163. DOI: 10.3390/jcm8122163
  8. Sankhla CS, Sankhe M, Ray J. Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India. Ann Indian Acad Neurol. 2022; 25(2): 314316. DOI: 10.4103/aian.aian_378_21
  9. Park JE, Vanegas-Arroyave N, Hallett M, Lungu C. A Woman With a Novel Mutation of THAP1 With a Prominent Response to Deep Brain Stimulation of the Globus Pallidus Internus. JAMA Neurol. 2015; 72(11): 1369. DOI: 10.1001/jamaneurol.2015.1954
DOI: https://doi.org/10.5334/tohm.774 | Journal eISSN: 2160-8288
Language: English
Submitted on: Apr 19, 2023
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Accepted on: Aug 11, 2023
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Published on: Aug 22, 2023
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2023 Shakya Bhattacharjee, Monty A. Silverdale, Michael Bonello, Julian Evans, Christopher Kobylecki, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.