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Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.儿童期起病的书写痉挛，伴后期共济失调：COQ8A相关疾病的一个线索。
Parkinsonism Relat Disord. 2024 Jun;123:106014. doi: 10.1016/j.parkreldis.2024.106014. Epub 2024 Feb 7.
2
Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.SYNE1 痉挛性共济失调病例中的局灶性肌张力障碍：扩展表型谱
Parkinsonism Relat Disord. 2021 Jun;87:22-24. doi: 10.1016/j.parkreldis.2021.04.014. Epub 2021 Apr 25.
3
SYNE1-ataxia: Novel genotypic and phenotypic findings.SYNE1-ataxia：新的基因型和表型发现。
Parkinsonism Relat Disord. 2019 May;62:210-214. doi: 10.1016/j.parkreldis.2018.12.007. Epub 2018 Dec 11.
4
The cerebellum and dystonia.小脑与肌张力障碍。
Handb Clin Neurol. 2018;155:259-272. doi: 10.1016/B978-0-444-64189-2.00017-2.
5
Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.SYNE1 共济失调患者的多模态神经影像学分析。
J Neurol Sci. 2018 Jul 15;390:227-230. doi: 10.1016/j.jns.2018.05.003. Epub 2018 May 4.
6
Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.关于小脑在肌张力障碍中作用的当前观点与共识领域
Cerebellum. 2017 Apr;16(2):577-594. doi: 10.1007/s12311-016-0825-6.
7
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.多系统SYNE1共济失调：证实高发病率并扩展突变和表型谱
Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19.
8
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.SYNE1共济失调是一种常见的隐性共济失调，具有主要的非小脑特征：一项大型多中心研究
Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.
9
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.SYNE1基因的突变会导致一种新发现的常染色体隐性小脑共济失调。
Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10.

Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation.

作者信息

Jaques Cristina Saade, Gama Maria Thereza Drumond, de Oliveira Ricardo Araújo, Rezende Thiago J R, Tonholo Silva Thiago Yoshinaga, França Marcondes Cavalcante, Bezerra Marcio Luiz Escórcio, Barsottini Orlando G P, Pedroso José Luiz

机构信息

Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil.

Department of Neurology, Universidade Estadual de Campinas, São Paulo, Brazil.

出版信息

Mov Disord Clin Pract. 2025 Jan;12(1):100-104. doi: 10.1002/mdc3.14224. Epub 2024 Oct 9.

DOI:10.1002/mdc3.14224
PMID:39382210
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11736882/
Abstract
摘要