• 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

突变 - 模仿特发性帕金森病的新型表型表现。

mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

作者信息

Madhavi Karri, Mridula Kandadai Rukmini, Kola Sruthi, Borgohain Rupam, Alugolu Rajesh, Prasad Vvsrk

机构信息

Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.

出版信息

Clin Park Relat Disord. 2024 Nov 13;11:100280. doi: 10.1016/j.prdoa.2024.100280. eCollection 2024.

DOI:10.1016/j.prdoa.2024.100280
PMID:39624339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11609689/
Abstract

• mutations can present as asymmetric parkinsonism mimicking idiopathic Parkinson's disease,• mutation must be considered in Early onset Parkinson's disease even with a negative family history.•Parkinsonism with mutations has shown good to moderate response to dopamine.

摘要

• 突变可表现为类似特发性帕金森病的不对称帕金森综合征。

• 即使家族史为阴性，早发性帕金森病也必须考虑到突变情况。

• 伴有突变的帕金森综合征对多巴胺治疗已显示出良好至中等程度的反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb6/11609689/1d43666d05f1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb6/11609689/1d43666d05f1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb6/11609689/1d43666d05f1/gr1.jpg

相似文献

1
mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.突变 - 模仿特发性帕金森病的新型表型表现。
Clin Park Relat Disord. 2024 Nov 13;11:100280. doi: 10.1016/j.prdoa.2024.100280. eCollection 2024.
2
Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.早发性退行性帕金森病——考虑 SPG7 突变。
Neurol India. 2021 Jul-Aug;69(4):1051-1052. doi: 10.4103/0028-3886.325330.
3
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease.帕金森病的遗传学研究如何增进对该疾病常见特发性形式的理解。
Curr Opin Neurol. 2005 Dec;18(6):706-11. doi: 10.1097/01.wco.0000186841.43505.e6.
4
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.中国一个家族中与遗传性痉挛性截瘫相关的新型复合杂合 SPG7 突变的鉴定：病例报告
BMC Neurol. 2018 Nov 29;18(1):196. doi: 10.1186/s12883-018-1199-9.
5
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.在欧洲，帕金森病基因（parkin基因）中的多种突变是常染色体隐性帕金森综合征的病因。法国帕金森病遗传学研究小组和欧洲帕金森病遗传易感性联盟。
Hum Mol Genet. 1999 Apr;8(4):567-74. doi: 10.1093/hmg/8.4.567.
6
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.巴西运动障碍诊所中的家族性帕金森病和早发性帕金森病：SNCA、PRKN、PINK1和LRRK2突变的表型特征及频率
Mov Disord. 2009 Apr 15;24(5):662-6. doi: 10.1002/mds.22365.
7
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.痉挛性截瘫基因 7 在痉挛和/或视神经病变患者中的作用。
Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.
8
Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism.一名具有新型颗粒蛋白基因突变的患者表现出非典型帕金森病，存在突触前多巴胺能缺陷的证据。
J Alzheimers Dis. 2014;38(4):747-52. doi: 10.3233/JAD-131151.
9
Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.编码富含亮氨酸重复激酶2（dardarin，PARK8）的基因发生突变会导致家族性帕金森病：临床、病理、嗅觉及功能影像学和遗传学数据。
Brain. 2005 Dec;128(Pt 12):2786-96. doi: 10.1093/brain/awh667. Epub 2005 Nov 4.
10
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.A53Tα-突触核蛋白帕金森病运动前期和运动期的血清素能病理学和疾病负担：一项横断面研究。
Lancet Neurol. 2019 Aug;18(8):748-759. doi: 10.1016/S1474-4422(19)30140-1. Epub 2019 Jun 19.

本文引用的文献

1
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.7型痉挛性截瘫与运动障碍：超越痉挛性截瘫
Mov Disord Clin Pract. 2022 Apr 1;9(4):522-529. doi: 10.1002/mdc3.13437. eCollection 2022 May.
2
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.SPG7 相关性痉挛性共济失调的神经生理学和眼科学发现：爱尔兰队列中的表型研究。
J Neurol. 2021 Oct;268(10):3897-3907. doi: 10.1007/s00415-021-10507-8. Epub 2021 Mar 27.
3
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
肌萎缩侧索硬化症中的 SPG7 突变：与遗传性痉挛性截瘫的遗传关联。
J Neurol. 2020 Sep;267(9):2732-2743. doi: 10.1007/s00415-020-09861-w. Epub 2020 May 23.
4
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.帕金森病和痉挛性截瘫 7 型：扩大线粒体帕金森病的谱。
Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21.
5
Utility and implications of exome sequencing in early-onset Parkinson's disease.外显子组测序在早发性帕金森病中的作用和意义。
Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.
6
Novel genotype-phenotype and MRI correlations in a large cohort of patients with mutations.一大群有突变的患者中的新型基因型-表型与MRI相关性。
Neurol Genet. 2018 Oct 24;4(6):e279. doi: 10.1212/NXG.0000000000000279. eCollection 2018 Dec.
7
SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.对左旋多巴有反应的伴帕金森病和多巴胺能缺陷的 SPG7。
Parkinsonism Relat Disord. 2018 Feb;47:88-90. doi: 10.1016/j.parkreldis.2017.12.004. Epub 2017 Dec 11.
8
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.痉挛性截瘫 7 型的基因型-表型相关性：一项大型荷兰队列研究。
Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.