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Bilateral pallidal deep brain stimulation for X-linked dystonia-parkinsonism.双侧苍白球深部脑刺激治疗 X 连锁型肌张力障碍-帕金森病。
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Benign Hereditary Chorea as a Manifestation of HPCA Mutation.良性遗传性舞蹈病作为HPCA突变的一种表现形式。
Mov Disord Clin Pract. 2022 Oct 10;10(1):130-134. doi: 10.1002/mdc3.13572. eCollection 2023 Jan.
2
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense Variant: Case Series and Literature Review.由一种复发性新型纯合无义变异导致的儿童期起病的舞蹈样手足徐动症：病例系列及文献综述
Mov Disord Clin Pract. 2022 Aug 23;10(1):101-108. doi: 10.1002/mdc3.13529. eCollection 2023 Jan.
3
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up.脑深部电刺激治疗肌张力障碍：短期和长期随访结果变异性的影响因素。
Curr Opin Neurol. 2022 Aug 1;35(4):510-517. doi: 10.1097/WCO.0000000000001072. Epub 2022 Jul 5.
4
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.海马钙结合蛋白改变导致的特定认知变化？一种与遗传性肌张力障碍和认知改变相关的新型家族性纯合海马钙结合蛋白变异体
Neuropediatrics. 2021 Oct;52(5):377-382. doi: 10.1055/s-0040-1722686. Epub 2021 Jan 28.
5
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.苍白球深部脑刺激治疗单基因肌张力障碍：基因对治疗结果的影响。
Front Neurol. 2021 Jan 8;11:630391. doi: 10.3389/fneur.2020.630391. eCollection 2020.
6
Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis.不同基因源性肌张力障碍对苍白球深部脑刺激的反应差异：系统评价和荟萃分析。
J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):426-433. doi: 10.1136/jnnp-2019-322169. Epub 2020 Feb 20.
7
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!明确常染色体隐性遗传性HPCA突变的表型：不仅是孤立性肌张力障碍！
Mov Disord. 2019 Apr;34(4):589-592. doi: 10.1002/mds.27638.
8
Genetic Subtypes and Deep Brain Stimulation in Dystonia.肌张力障碍的基因亚型与深部脑刺激
Mov Disord Clin Pract. 2018 Aug 11;5(4):357-360. doi: 10.1002/mdc3.12660. eCollection 2018 Jul-Aug.
9
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.HPCA 被确认为 DYT2 样肌张力障碍表型的遗传原因。
Mov Disord. 2018 Aug;33(8):1354-1358. doi: 10.1002/mds.27442. Epub 2018 Aug 25.
10
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.具有家族内临床异质性的新型GNAL突变：扩展表型
Parkinsonism Relat Disord. 2016 Feb;23:66-71. doi: 10.1016/j.parkreldis.2015.12.012. Epub 2015 Dec 18.

Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.

作者信息

Samanci Bedia, Şahin Erdi, Samanci Yavuz, Bilgiç Başar, Atasu Burcu, Lohmann Ebba, Peker Selçuk, Hanağası Haşmet A

机构信息

Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Department of Neurosurgery, Koc University Faculty of Medicine, Koc University, Istanbul, Turkey.

出版信息

Mov Disord Clin Pract. 2024 Feb;11(2):184-187. doi: 10.1002/mdc3.13947. Epub 2023 Dec 20.

DOI:10.1002/mdc3.13947
PMID:38386491
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10883396/
Abstract
摘要