&ldquo;Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report&rdquo;

Edgar Javier Sánchez-Román; Leonel Villa-Villegas; Roberto Leal-Ortega; Luz Gabriela Lira-Jaime; Francisco Rivas-Ruvalcaba; Karely Díaz-Ramírez; Carlos Eduardo Piña-Avilés; Rodrigo Mercado-Pimentel; Carlos Zúñiga-Ramírez

doi:10.5334/tohm.1000

References

de Assis Pereira Matos PCA. POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia. Mov Disord Clin Pract. 2020 Apr 18;7(4):467–469. DOI: 10.1002/mdc3.12945
Open DOI Search in Google Scholar Back to article
Yang H. A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy. Neurol Sci. 2023 Sep;44(9):3363–3368. DOI: 10.1007/s10072-023-06767-z
Open DOI Search in Google Scholar Back to article
Campopiano R, Ferese R, Zampatti S, Giardina E, Biagioni F, Colonnese C, et al. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset. BMC Neurol. 2020;20:258. DOI: 10.1186/s12883-020-01835-9
Open DOI Search in Google Scholar Back to article
Majethia P, Girisha KM. Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. Am J Med Genet A. 2021;185:1602–1605. DOI: 10.1002/ajmg.a.62115
Open DOI Search in Google Scholar Back to article
Thomas A, Thomas AK. POLR3-related Leukodystrophy. J Clin Imaging Sci. 2019 Oct 24;9:45. DOI: 10.25259/JCIS_116_2019
Open DOI Search in Google Scholar Back to article
Nikkhah A, Rezakhani S. Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report. Clin Case Rep. 2022 Nov 15;10(11):e6556. DOI: 10.1002/ccr3.6556
Open DOI Search in Google Scholar Back to article
Wu S. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report. BMC Pediatr. 2019;19:289. DOI: 10.1186/s12887-019-1656-7
Open DOI Search in Google Scholar Back to article
Ahmed Si H, Belarbi O, Daoudi S, et al. A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy. Ro J Neurol. 2022;21(2). DOI: 10.37897/RJN.2022.2.4
Open DOI Search in Google Scholar Back to article
Zanette V, Reyes A, Johnson M, et al. Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations. Neurol Genet. 2020;6(6):e521. DOI: 10.1212/NXG.0000000000000521
Open DOI Search in Google Scholar Back to article
Tewari VV, Mehta R, Sreedhar C, et al. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. BMC Pediatr. 2018;18:1–7. DOI: 10.1186/s12887-018-1108-9
Open DOI Search in Google Scholar Back to article
Ruan DD. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation. Sci Rep. 2024 Apr 1;14(1):7638. DOI: 10.1038/s41598-024-58452-6
Open DOI Search in Google Scholar Back to article
Hiraide T, Kubota K, Kono Y, et al. POLR3A variants in striatal involvement without diffuse hypomyelination. Brain Dev. 2020;42:363–368. DOI: 10.1016/j.braindev.2019.12.012
Open DOI Search in Google Scholar Back to article
Musumeci A, et al. Identifcation of a novel missense mutation of POLR3A gene in a cohort of sicilian patients with leukodystrophy. Biomedicines. 2022 Sep 14;10(9):2276. DOI: 10.3390/biomedicines10092276
Open DOI Search in Google Scholar Back to article
Di Donato I. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. Neurol Sci. 2022 Feb;43(2):1071–1077. DOI: 10.1007/s10072-021-05462-1
Open DOI Search in Google Scholar Back to article
Mirchi A. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. J Med Genet. 2023 Oct;60(10):1026–1034. DOI: 10.1136/jmg-2023-109223
Open DOI Search in Google Scholar Back to article
Rydning SL, Koht J, Sheng Y, et al. Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. 2019;142:e12. DOI: 10.1093/brain/awz041
Open DOI Search in Google Scholar Back to article
Harting I. POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics. 2020 Apr;21(2):121–133. DOI: 10.1007/s10048-019-00602-4
Open DOI Search in Google Scholar Back to article
Liu J. POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience. Front Neurol. 2024 Mar 14;15:1355484. DOI: 10.3389/fneur.2024.1355484
Open DOI Search in Google Scholar Back to article
Minnerop M, Kurzwelly D, Wagner H, Soehn A, et al. Hypomorphic mutations in POLR3A are frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. DOI: 10.1093/brain/awx095
Open DOI Search in Google Scholar Back to article
Azmanov D, Siira S, Chamova T, et al. Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Hum Mol Genet. 2016 Oct 1;25(19):4302–4314. DOI: 10.1093/hmg/ddw263
Open DOI Search in Google Scholar Back to article
Lata E. RNA Polymerase III Subunit Mutations in Genetic Diseases. Front Mol Biosci. 2021 Jul 30;8:696438. DOI: 10.3389/fmolb.2021.696438
Open DOI Search in Google Scholar Back to article
Dieci G, Fiorino G, Castelnuovo M, Teichmann M, Pagano A. The expanding RNA polymerase III transcriptome. Trends Genet. 2007 Dec;23(12):614–22. DOI: 10.1016/j.tig.2007.09.001
Open DOI Search in Google Scholar Back to article
Sun L. A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review. Front. Neurol. 27 October 2023;14. Sec. Dementia and Neurodegenerative Diseases. DOI: 10.3389/fneur.2023.1269237
Open DOI Search in Google Scholar Back to article
Perrier S. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020 May 11;6(3):e425. DOI: 10.1212/NXG.0000000000000425
Open DOI Search in Google Scholar Back to article
Infante J, Serrano-Cárdenas KM, Corral-Juan M, et al. POLR3A related spastic ataxia: new mutations and a look into the phenotype. J Neurol. 2020;267:324–330. DOI: 10.1007/s00415-019-09574-9
Open DOI Search in Google Scholar Back to article
Cayami FK. 4H leukodystrophy: lessons from 3T imaging. Neuropediatrics. 2018;49:112–7. DOI: 10.1055/s-0037-1608780
Open DOI Search in Google Scholar Back to article
Wolf NI, Harting I, Innes AM, Patzer S, Zeitler P, Schneider A, et al. Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics. 2007;38:64–70. DOI: 10.1055/s-2007-985137
Open DOI Search in Google Scholar Back to article
Bernard G, Thiffault I, Tétreault M, Putorti ML, Bouchard I, Sylvain M, et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010;11:457–64. DOI: 10.1007/s10048-010-0251-8
Open DOI Search in Google Scholar Back to article
Atrouni S, Darazé A, Tamraz J, Cassia A, Caillaud C, Mégarbané A. Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? Am J Med Genet A. 2003;118A:76–81. DOI: 10.1002/ajmg.a.10019
Open DOI Search in Google Scholar Back to article
Sasaki M, Takanashi J, Tada H, Sakuma H, Furushima W, Sato N. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev. 2009;31:582–7. DOI: 10.1016/j.braindev.2008.09.003
Open DOI Search in Google Scholar Back to article
Bernard G, Vanderver A. POLR3-Related Leukodystrophy. 2012 Aug 2 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018.
Search in Google Scholar Back to article
Paolacci S. Wiedemann – Rautenstrauch syndrome: A phenotype analysis. Am J Med Genet A. 2017 Jul;173(7):1763–1772. DOI: 10.1002/ajmg.a.38246
Open DOI Search in Google Scholar Back to article
Rydning SL, Koht J, Sheng Y, et al. Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. 2019;142:e12. DOI: 10.1093/brain/awz041
Open DOI Search in Google Scholar Back to article
La Piana R. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol. 2014 Feb;29(2):214–20. DOI: 10.1177/0883073813503902
Open DOI Search in Google Scholar Back to article
Al Yazidi G. Dystonia in RNA Polymerase III-Related Leukodystrophy. Mov Disord Clin Pract. 2019 Jan 9;6(2):155–159. DOI: 10.1002/mdc3.12715
Open DOI Search in Google Scholar Back to article
Kyle K. Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation. Parkinsonism Relat Disord. 2021 Apr;85:23–25. DOI: 10.1016/j.parkreldis.2021.02.018
Open DOI Search in Google Scholar Back to article
Koeglsperger T, Palleis C, Hell F, Mehrkens J, et al. Deep Brain Stimulation Programming for Movement Disorders: Current Concepts and Evidence-Based Strategies. Front. Neurol. 10:410. DOI: 10.3389/fneur.2019.00410
Open DOI Search in Google Scholar Back to article
Larson P. Deep Brain Stimulation for Movement Disorders. Neurotherapeutics. 2014 Jul;11(3):465–74. DOI: 10.1007/s13311-014-0274-1
Open DOI Search in Google Scholar Back to article
Paoli D, Mills R, Brechany U, Pavese N, et al. DBS in tremor with dystonia: VIM, Gpi or both? A review of the literature and considerations from a single-center experience. J Neurol. 2023 Apr;270(4):2217–2229. DOI: 10.1007/s00415-023-11569-6
Open DOI Search in Google Scholar Back to article

“Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report”

References

Paradigm

My account