Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit
References
- 1Cury RG, Fraix V, Castrioto A, Perez Fernandez MA, Krack P, Chabardes S, et al. Thalamic deep brain stimulation for tremor in Parkinson disease, essential tremor, and dystonia. Neurology. 2017;89(13):1416–23. DOI: 10.1212/WNL.0000000000004295
- 2Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, et al. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. Neurol Sci. 2022;43(2):1071–7. DOI: 10.1007/s10072-021-05462-1
- 3Infante J, Serrano-Cardenas KM, Corral-Juan M, Farre X, Sanchez I, de Lucas EM, et al. POLR3A-related spastic ataxia: new mutations and a look into the phenotype. J Neurol. 2020;267(2):324–30. DOI: 10.1007/s00415-019-09574-9
- 4Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140(6):1561–78.
- 5Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, et al. Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. 2019;142(4):
e12 . DOI: 10.1093/brain/awz041 - 6Salman MS. Epidemiology of Cerebellar Diseases and Therapeutic Approaches. Cerebellum. 2018;17(1):4–11. DOI: 10.1007/s12311-017-0885-2
- 7Kyle K, Mason X, Bordelon Y, Pouratian N, Bronstein J. Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation. Parkinsonism Relat Disord. 2021;85:23–5. DOI: 10.1016/j.parkreldis.2021.02.018
- 8Minnerop M, Reinhardt A, Nikolov P, Bahners BH, Caspers J, Marae JG, et al. Long-Term Benefit of Thalamic Deep Brain Stimulation in POLR3A Mutation-Associated Action Tremor. Mov Disord Clin Pract; 2025. DOI: 10.1002/mdc3.70002
- 9Giordano M, Caccavella VM, Zaed I, Foglia Manzillo L, Montano N, Olivi A, et al. Comparison between deep brain stimulation and magnetic resonance-guided focused ultrasound in the treatment of essential tremor: a systematic review and pooled analysis of functional outcomes. J Neurol Neurosurg Psychiatry. 2020;91(12):1270–8. DOI: 10.1136/jnnp-2020-323216
- 10Shih LC. Emerging Deep Brain Stimulation Targets in the Cerebellum for Tremor. Cerebellum. 2025;24(2):38. DOI: 10.1007/s12311-025-01789-z
- 11Tai CH, Tseng SH. Cerebellar deep brain stimulation for movement disorders. Neurobiol Dis. 2022;175:105899. DOI: 10.1016/j.nbd.2022.105899
- 12Loeffler MA, Synofzik M, Cebi I, Klocke P, Hormozi M, Gasser T, et al. Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia. Front Neurol. 2022;13:1048530. DOI: 10.3389/fneur.2022.1048530
DOI: https://doi.org/10.5334/tohm.1003 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 30, 2025
Accepted on: Apr 5, 2025
Published on: Apr 16, 2025
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
© 2025 Ute Scheller, Steffen Paschen, Fabian Maass, Christoph van Riesen, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.