丘脑腹中间核深部脑刺激治疗Polr3a相关震颤共济失调综合征的震颤：两例报告
"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".
作者信息
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
机构信息
Movement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
Department of Neurology, Hospital Faro del Mayab, Mérida Yucatán, México.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2025 Sep 5;15:42. doi: 10.5334/tohm.1000. eCollection 2025.
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.
临床病例
RNA聚合酶III亚基A（POLR3A）相关疾病是一组具有隐性常染色体遗传的异质性疾病。这些疾病表现出不同的临床特征，如共济失调、痉挛、牙齿发育不全、性腺功能减退、智力迟钝和进行性运动功能衰退。
临床困境
POLR3A基因突变可表现为帕金森综合征、肌张力障碍、共济失调和震颤。深部脑刺激（DBS）可能对运动症状有效。选择最佳的DBS靶点对成功治疗至关重要。
病例报告及临床解决方案
两名因POLR3A基因突变导致以震颤综合征为主且对药物治疗无反应的患者在丘脑腹中间核接受了DBS（丘脑腹中间核DBS），震颤得到显著改善。
知识空白
POLR3A基因突变引起的震颤可能对丘脑腹中间核DBS有反应。
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