• 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
Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.伴发脆性X相关震颤共济失调综合征和帕金森病：两例临床病理报告
J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):934-6. doi: 10.1136/jnnp-2014-309460. Epub 2014 Dec 4.
2
Pearls & Oy-sters: fragile X tremor/ataxia syndrome: a diagnostic dilemma.珍闻与疑难：脆性X震颤/共济失调综合征：诊断难题
Neurology. 2015 Feb 17;84(7):e43-5. doi: 10.1212/WNL.0000000000001267.
3
The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).携带脆性 X 相关震颤/共济失调综合征 (FXTAS) 或不携带脆性 X 相关震颤/共济失调综合征的 FMR1 前突变携带者的震颤谱。
Parkinsonism Relat Disord. 2019 Aug;65:32-38. doi: 10.1016/j.parkreldis.2019.05.010. Epub 2019 May 7.
4
Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.脆性 X 相关震颤/共济失调综合征：FMR1 基因对正常和前突变等位基因男性运动纤维束的影响。
JAMA Neurol. 2013 Aug;70(8):1022-9. doi: 10.1001/jamaneurol.2013.2934.
5
Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.脆性X相关震颤/共济失调综合征：脆性X基因的老龄面孔。
Arch Neurol. 2008 Jan;65(1):19-25. doi: 10.1001/archneurol.2007.30.
6
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).患有脆性X相关震颤/共济失调综合征（FXTAS）的女性的脑容量变化。
Neurology. 2007 Aug 28;69(9):851-9. doi: 10.1212/01.wnl.0000269781.10417.7b.
7
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.智利一位未甲基化镶嵌型脆性 X 综合征男性的 FXTA。
Clin Genet. 2014 Oct;86(4):378-82. doi: 10.1111/cge.12278. Epub 2013 Oct 13.
8
Fragile X-associated tremor/ataxia syndrome.脆性X相关震颤/共济失调综合征
JBR-BTR. 2012 May-Jun;95(3):156-7. doi: 10.5334/jbr-btr.599.
9
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).
J Neurol. 2015 Jan;262(1):226-7. doi: 10.1007/s00415-014-7597-z. Epub 2014 Dec 9.
10
Age-related functional brain changes in premutation carriers.与年龄相关的 前突变携带者的功能性大脑变化。
Neuroimage Clin. 2017 Dec 9;17:761-767. doi: 10.1016/j.nicl.2017.12.016. eCollection 2018.

引用本文的文献

1
Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).在脆性X相关震颤/共济失调综合征（FXTAS）的诱导性小鼠模型中，黑质纹状体变性是感觉运动功能障碍的基础。
Int J Mol Sci. 2025 Feb 11;26(4):1511. doi: 10.3390/ijms26041511.
2
Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.脆性X相关震颤/共济失调综合征、帕金森病和特发性震颤中的震颤描记术。
Clin Park Relat Disord. 2020 Jan 23;3:100040. doi: 10.1016/j.prdoa.2020.100040. eCollection 2020.
3
Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction.一种非编码重复扩增障碍中与帕金森症相关的中脑萎缩：5例伴有黑质纹状体多巴胺能功能障碍的31型脊髓小脑共济失调病例
Cerebellum Ataxias. 2021 Mar 30;8(1):11. doi: 10.1186/s40673-021-00134-4.
4
The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders.α-突触核蛋白与其他帕金森病基因在神经发育和神经退行性疾病中的作用。
Int J Mol Sci. 2020 Aug 10;21(16):5724. doi: 10.3390/ijms21165724.
5
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.脆性 X 相关震颤/共济失调综合征（FXTAS）：发病机制与临床意义。
Int J Mol Sci. 2020 Jun 20;21(12):4391. doi: 10.3390/ijms21124391.
6
Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.脆性X相关震颤/共济失调综合征中的帕金森综合征与伴发的帕金森病
Mov Disord Clin Pract. 2020 Apr 9;7(4):413-418. doi: 10.1002/mdc3.12942. eCollection 2020 May.
7
The FMRpolyGlycine Protein Mediates Aggregate Formation and Toxicity Independent of the CGG mRNA Hairpin in a Cellular Model for FXTAS.在脆性X震颤性共济失调综合征（FXTAS）的细胞模型中，FMR多聚甘氨酸蛋白介导聚集体形成和毒性，且不依赖于CGG mRNA发夹结构。
Front Genet. 2019 Mar 28;10:249. doi: 10.3389/fgene.2019.00249. eCollection 2019.
8
Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism.伴有帕金森症的脆性X染色体相关震颤共济失调综合征的认知缺陷及相关事件相关电位N400异常
Front Genet. 2018 Sep 18;9:327. doi: 10.3389/fgene.2018.00327. eCollection 2018.
9
Pathological Study of a Premutation Carrier With Progressive Supranuclear Palsy.一名患有进行性核上性麻痹的前突变携带者的病理学研究。
Front Genet. 2018 Aug 15;9:317. doi: 10.3389/fgene.2018.00317. eCollection 2018.
10
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.脆性X相关震颤/共济失调综合征：与其他运动障碍的表型比较。
Clin Neuropsychol. 2016 Aug;30(6):849-900. doi: 10.1080/13854046.2016.1202239.

本文引用的文献

1
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.女性脆性 X 前突变携带者中伴有和不伴有 FXTAS 的神经病理学、临床和分子病理学。
Genes Brain Behav. 2012 Jul;11(5):577-85. doi: 10.1111/j.1601-183X.2012.00779.x. Epub 2012 Apr 6.
2
Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome.
Mov Disord. 2009 Jun 15;24(8):1245-7. doi: 10.1002/mds.22267.
3
Progression of tremor and ataxia in male carriers of the FMR1 premutation.脆性X智力低下1基因前突变男性携带者震颤和共济失调的进展
Mov Disord. 2007 Jan 15;22(2):203-6. doi: 10.1002/mds.21252.
4
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).脆性X相关震颤/共济失调综合征（FXTAS）的神经病理学
Brain. 2006 Jan;129(Pt 1):243-55. doi: 10.1093/brain/awh683. Epub 2005 Dec 5.
5
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.一名脆性X染色体携带者的帕金森综合征、自主神经功能障碍及核内包涵体：一项临床病理研究
Mov Disord. 2006 Mar;21(3):420-5. doi: 10.1002/mds.20753.
6
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?FMR1基因中的前突变作为帕金森病相关帕金森病的修饰因子？
Mov Disord. 2005 Aug;20(8):1060-2. doi: 10.1002/mds.20512.
7
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.脆性X携带者中新发小脑震颤/共济失调综合征中的神经元核内包涵体
Brain. 2002 Aug;125(Pt 8):1760-71. doi: 10.1093/brain/awf184.

Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.

作者信息

De Pablo-Fernandez Eduardo, Doherty Karen M, Holton Janice L, Revesz Tamas, Djamshidian Atbin, Limousin Patricia, Bhatia Kailash P, Warner Thomas T, Lees Andrew J, Ling Helen

机构信息

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, London, UK.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, London, UK National Hospital for Neurology and Neurosurgery, Queen Square, UCL Hospitals NHS Foundation Trust, London, UK.

出版信息

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):934-6. doi: 10.1136/jnnp-2014-309460. Epub 2014 Dec 4.

DOI:10.1136/jnnp-2014-309460
PMID:25476004
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4516009/
Abstract
摘要