• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
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.
2
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.PNPLA6 突变导致布歇尔-努厄豪泽综合征和戈登-霍姆斯综合征,属于广泛的神经退行性疾病谱的一部分。
Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19.
3
Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism.关于马里内斯科-舍格伦综合征与高促性腺激素性性腺功能减退的连锁研究。
Clin Genet. 1977 Jan;11(1):57-66. doi: 10.1111/j.1399-0004.1977.tb01279.x.
4
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.一个土耳其家族中具有难治性 Holmes 震颤和痉挛性共济失调的新型 PNPLA6 突变。
Neurol Sci. 2021 Apr;42(4):1535-1539. doi: 10.1007/s10072-020-04869-6. Epub 2020 Nov 18.
5
Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report.开始使用苯海索后出现精神病性特征的伍德豪斯-萨卡蒂综合征:一例报告
Cureus. 2022 Aug 1;14(8):e27576. doi: 10.7759/cureus.27576. eCollection 2022 Aug.
6
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.伴有促性腺激素增多性性腺功能减退和感音神经性耳聋的家族性小脑共济失调新变体。
Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q.
7
A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature.布歇-诺伊豪泽综合征的一个新家族:霍姆斯型小脑萎缩、低促性腺激素性性腺功能减退和视网膜脉络膜变性并存:病例报告及文献复习
Endocr J. 1995 Jun;42(3):367-76. doi: 10.1507/endocrj.42.367.
8
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review.伍德豪斯-萨卡蒂综合征中的肌张力障碍:一个新家族及文献综述
Mov Disord. 2008 Mar 15;23(4):592-6. doi: 10.1002/mds.21886.
9
Woodhouse-Sakati Syndrome: First report of a Portuguese case.伍德豪斯-萨卡蒂综合征:葡萄牙首例报告。
Am J Med Genet A. 2019 Nov;179(11):2237-2240. doi: 10.1002/ajmg.a.61303. Epub 2019 Jul 26.
10
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.复合杂合性PNPLA6突变导致伴有迟发性共济失调的布歇-诺伊豪泽综合征。
J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3. Epub 2014 Sep 30.

引用本文的文献

1
Neurology of Androgens and Androgenic Supplements.雄激素与雄激素补充剂的神经学
Curr Neurol Neurosci Rep. 2025 Jun 3;25(1):39. doi: 10.1007/s11910-025-01426-6.
2
An Uncommon Cause of Progressive Rest, Postural and Kinetic Tremor With Ataxia in a Middle-Aged Man: A Rare Case of Klinefelter's Syndrome.一名中年男性进行性静息性、姿势性和运动性震颤伴共济失调的罕见病因:一例克氏综合征罕见病例
J Mov Disord. 2025 Jul;18(3):283-284. doi: 10.14802/jmd.25081. Epub 2025 May 1.
3
STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.与STUB1相关的常染色体隐性遗传性脊髓小脑共济失调16型(SCAR16),表现为母源性单亲二体导致的戈登-霍姆斯综合征。
Mov Disord Clin Pract. 2025 Apr;12(4):533-536. doi: 10.1002/mdc3.14322. Epub 2024 Dec 27.
4
Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function.戈登·霍姆斯综合征模型小鼠表现出小胶质细胞的改变、年龄以及认知和本体感觉功能的性别特异性破坏。
eNeuro. 2024 Jan 25;11(1). doi: 10.1523/ENEURO.0074-23.2023. Print 2024 Jan.
5
Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.常染色体隐性遗传性小脑共济失调:新首字母缩略词、旧人名命名法与蝴蝶生命周期
Mov Disord Clin Pract. 2023 Jul 17;10(9):1297-1301. doi: 10.1002/mdc3.13835. eCollection 2023 Sep.
6
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.一个土耳其 Gordon Holmes 综合征病例中 RNF216 基因突变的新发现。
BMC Med Genomics. 2023 May 9;16(1):98. doi: 10.1186/s12920-023-01529-4.
7
Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.大中东地区及其他地区 Woodhouse-Sakati 综合征的遗传流行病学:系统评价。
Orphanet J Rare Dis. 2023 Jan 31;18(1):22. doi: 10.1186/s13023-023-02614-8.

本文引用的文献

1
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty.内分泌疾病管理:原发性闭经和女性青春期延迟的诊断和治疗。
Eur J Endocrinol. 2021 May 4;184(6):R225-R242. doi: 10.1530/EJE-20-1487.
2
Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.超越典型的共济失调毛细血管扩张症:如何识别共济失调毛细血管扩张症样疾病。
Mov Disord Clin Pract. 2020 Nov 19;8(1):118-125. doi: 10.1002/mdc3.13110. eCollection 2021 Jan.
3
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。
J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8.
4
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.一个土耳其家族中具有难治性 Holmes 震颤和痉挛性共济失调的新型 PNPLA6 突变。
Neurol Sci. 2021 Apr;42(4):1535-1539. doi: 10.1007/s10072-020-04869-6. Epub 2020 Nov 18.
5
Novel variants in PNPLA6 causing syndromic retinal dystrophy.导致综合征性视网膜营养不良的 PNPLA6 中的新型变异体。
Exp Eye Res. 2021 Jan;202:108327. doi: 10.1016/j.exer.2020.108327. Epub 2020 Oct 22.
6
SQSTM1 mutation: Description of the first Tunisian case and literature review.SQSTM1 突变:首例突尼斯病例描述及文献复习。
Mol Genet Genomic Med. 2020 Dec;8(12):e1543. doi: 10.1002/mgg3.1543. Epub 2020 Nov 2.
7
A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.一个新的 RNF216 基因突变与常染色体隐性亨廷顿样疾病相关。
Ann Clin Transl Neurol. 2020 May;7(5):860-864. doi: 10.1002/acn3.51047. Epub 2020 May 2.
8
Optimal Endocrine Evaluation and Treatment of Male Infertility.男性不育的最佳内分泌评估和治疗。
Urol Clin North Am. 2020 May;47(2):139-146. doi: 10.1016/j.ucl.2019.12.002.
9
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.伍德豪斯-萨卡蒂综合征的神经表现模式。
Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13.
10
A case of Parkinson's disease in a patient with Klinefelter's syndrome.1例患有克兰费尔特综合征的帕金森病患者。
Acta Neurol Belg. 2020 Aug;120(4):971-972. doi: 10.1007/s13760-019-01232-1. Epub 2019 Oct 30.

与性腺功能减退相关的运动障碍

Movement Disorders Associated with Hypogonadism.

作者信息

Gonzalez-Latapi Paulina, Sousa Mario, Lang Anthony E

机构信息

The Edmond J. Safra Program for Parkinson Disease, Movement Disorder Clinic Toronto Western Hospital, University Health Network Toronto Ontario Canada.

Division of Neurology, Department of Medicine University of Toronto Toronto Ontario Canada.

出版信息

Mov Disord Clin Pract. 2021 Jul 29;8(7):997-1011. doi: 10.1002/mdc3.13308. eCollection 2021 Oct.

DOI:10.1002/mdc3.13308
PMID:34631935
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8485629/
Abstract

A variety of movement disorders can be associated with hypogonadism. Identification of this association may aid in guiding workup and reaching an accurate diagnosis. We conducted a comprehensive and structured search to identify the most common movement disorders associated with hypogonadism. Only Case Reports and Case Series articles were included. Ataxia was the most common movement disorder associated with hypogonadism, including entities such as Gordon-Holmes syndrome, Boucher-Neuhäuser, Marinesco-Sjögren and Perrault syndrome. Tremor was also commonly described, particularly with aneuploidies such as Klinefelter syndrome and Jacob's syndrome. Other rare conditions including mitochondrial disorders and Woodhouse-Sakati syndrome are associated with dystonia and parkinsonism and either hypo or hypergonadotropic hypogonadism. We also highlight those entities where a combination of movement disorders is present. Hypogonadism may be more commonly associated with movement disorders than previously appreciated. It is important for the clinician to be aware of this association, as well as accompanying symptoms in order to reach a precise diagnosis.

摘要

多种运动障碍可能与性腺功能减退有关。识别这种关联可能有助于指导检查并做出准确诊断。我们进行了全面且结构化的检索,以确定与性腺功能减退相关的最常见运动障碍。仅纳入了病例报告和病例系列文章。共济失调是与性腺功能减退相关的最常见运动障碍,包括戈登 - 霍姆斯综合征、布歇 - 诺伊豪泽综合征、马里内斯科 - 舍格伦综合征和佩罗特综合征等。震颤也常被描述,尤其是与克兰费尔特综合征和雅各布综合征等非整倍体相关。其他罕见病症,包括线粒体疾病和伍德豪斯 - 萨卡蒂综合征,与肌张力障碍和帕金森症以及低促性腺激素或高促性腺激素性性腺功能减退有关。我们还强调了那些存在多种运动障碍组合的病症。性腺功能减退可能比之前认为的更常与运动障碍相关。临床医生了解这种关联以及伴随症状对于做出准确诊断很重要。