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Article

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

Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2025

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 40917817
DOI: 10.5334/tohm.1000
PMCID: PMC12412673

Genes

POLR3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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