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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.扩展 STIP1 同源和 U -box 结构域蛋白 1 相关共济失调的临床谱。
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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.STUB1/CHIP突变作为广泛的多系统神经退行性变的一部分导致戈登·霍姆斯综合征：来自四个新突变的证据。
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Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.从一名患有戈登·霍姆斯综合征/ SCAR16的患者建立STUB1/CHIP突变诱导多能干细胞（iPSC）
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Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.脊髓小脑性共济失调 17 型-双基因 TBP/STUB1 病：一例尸检患者的神经病理学特征。
Acta Neuropathol Commun. 2022 Dec 7;10(1):177. doi: 10.1186/s40478-022-01486-6.

本文引用的文献

1
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.双基因TBP/STUB1脊髓小脑共济失调患者的复杂共济失调-痴呆表型
Mov Disord. 2023 Apr;38(4):665-675. doi: 10.1002/mds.29352. Epub 2023 Feb 17.
2
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.遗传运动障碍命名：国际帕金森病与运动障碍学会工作组的建议——更新版。
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
3
Movement Disorders Associated with Hypogonadism.与性腺功能减退相关的运动障碍
Mov Disord Clin Pract. 2021 Jul 29;8(7):997-1011. doi: 10.1002/mdc3.13308. eCollection 2021 Oct.
4
Extending the Phenotypic Spectrum Associated with Mutations: A Case of Dystonia.扩展与突变相关的表型谱：一例肌张力障碍病例
Mov Disord Clin Pract. 2020 Mar 9;7(3):318-324. doi: 10.1002/mdc3.12914. eCollection 2020 Apr.
5
Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48).杂合突变导致伴认知情感障碍的家族性共济失调（SCA48）。
Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31.
6
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.3例常染色体隐性遗传性脊髓小脑共济失调16型患者同胞中的舞蹈手足徐动症、肌张力障碍和肌阵挛
JAMA Neurol. 2016 Jul 1;73(7):888-90. doi: 10.1001/jamaneurol.2016.0647.
7
Targeting Hsp90/Hsp70-based protein quality control for treatment of adult onset neurodegenerative diseases.靶向基于Hsp90/Hsp70的蛋白质质量控制以治疗成人迟发性神经退行性疾病。
Annu Rev Pharmacol Toxicol. 2015;55:353-71. doi: 10.1146/annurev-pharmtox-010814-124332. Epub 2014 Sep 25.
8
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.常染色体隐性共济失调中的STUB1突变——突变特异性临床异质性的证据
Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0.
9
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.STUB1突变的表型与频率：高加索人群共济失调和痉挛性截瘫队列中的新一代筛查
Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57.
10
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.由于泛素连接酶 U -box 蛋白 CHIP 的活性丧失而导致的共济失调和性腺功能减退。
Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.

作者信息

Agianda Habibah A P, Tam Amy, Kunta Avaneesh, Zubair Umar, Saffari Afshin, Rong Joshua, Crough Michelle, Srouji Rasha, Quiroz Vicente, Yang Kathryn, Schierbaum Luca, Ebrahimi-Fakhari Darius

机构信息

Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

University of Central Florida College of Medicine, Orlando, Florida, USA.

出版信息

Mov Disord Clin Pract. 2025 Apr;12(4):533-536. doi: 10.1002/mdc3.14322. Epub 2024 Dec 27.

DOI:10.1002/mdc3.14322
PMID:39728009
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11998683/
Abstract
摘要