Evidence map›Paper›PMID 40917817›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2025

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

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

Abstract readCase Reports
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Edgar Javier Sánchez-RománMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Leonel Villa-VillegasMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.ORCID 0009-0008-3096-8131
Roberto Leal-OrtegaDepartment of Neurology, Hospital Faro del Mayab, Mérida Yucatán, México.ORCID 0000-0001-5582-8962
Luz Gabriela Lira-JaimeMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.ORCID 0009-0008-1773-3661
Francisco Rivas-RuvalcabaMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.ORCID 0000-0003-3592-357X
Karely Díaz-RamírezMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Carlos Eduardo Piña-AvilésDepartment of Genetics, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Rodrigo Mercado-PimentelUnidad de Movimientos Anormales y Neurodegeneración de Occidente (UMANO), Hospital San Javier, Guadalajara, México.ORCID 0000-0002-7676-0597
Carlos Zúñiga-RamírezMovement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.ORCID 0000-0003-4319-5875

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical Vignette: RNA polymerase III subunit A (POLR3A) related disorders are a group of heterogeneous diseases with a recessive autosomic inheritance. These disorders manifest with distinct clinical features like ataxia, spasticity, hypodontia, hypogonadism, mental retardation and progressive motor decline. Clinical Dilemma: POLR3A gene mutation can manifest with parkinsonism, dystonia, ataxia and tremor. Deep brain stimulation (DBS) might be effective for motor symptoms. Choosing the best DBS target is essential for successful treatment. Case reports and Clinical Solution: Two subjects with a predominant tremorous syndrome due to POLR3A gene mutation with no response to pharmacological treatment underwent DBS at ventral intermediate nuclei (Vim DBS) of thalamus, with significant improvement in tremor. Gap in Knowledge: Tremor in POLR3A gene mutation could respond to Vim DBS.

Indexed as

AtaxiaDeep Brain StimulationRNA Polymerase IIITremorVentral Thalamic NucleiAdultFemaleHumansMaleMiddle AgedMutationPOLR3A protein, humanRNA Polymerase IIIataxiaDBSPOLR3AspasticitythalamustremorVim

Identifiers

PMID40917817
PMCPMC12412673

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.