联合性肌张力障碍-耳聋-帕金森综合征中 ACTB 基因突变：扩展表型并突出长期 GPi DBS 治疗结果。

ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.

机构信息

Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Neurology and Stroke Unit, C.T.O. Hospital, A.O.R.N. "Ospedali dei Colli", Naples, Italy.

Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

出版信息

Parkinsonism Relat Disord. 2022 Nov;104:3-6. doi: 10.1016/j.parkreldis.2022.09.012. Epub 2022 Sep 24.

DOI:10.1016/j.parkreldis.2022.09.012

PMID:36183459

Abstract

We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.

摘要

我们报告了一位接受苍白球深部脑刺激治疗的肌张力障碍-耳聋综合征患者，取得了显著的长期获益。本研究扩展并证实了 ACTB 基因相关疾病的复杂表型谱，并支持苍白球刺激对 ACTB p.Arg183Trp 杂合性引起的肌张力障碍的运动结局和生活质量的有效性。