• 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

与17号染色体相关且伴有P301S tau突变的额颞叶痴呆和帕金森综合征家系的临床及遗传学特征

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.

作者信息

Baba Y, Baker M C, Le Ber I, Brice A, Maeck L, Kohlhase J, Yasuda M, Stoppe G, Bugiani O, Sperfeld A D, Tsuboi Y, Uitti R J, Farrer M J, Ghetti B, Hutton M L, Wszolek Z K

机构信息

Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.

出版信息

J Neural Transm (Vienna). 2007 Jul;114(7):947-50. doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.

DOI:10.1007/s00702-007-0632-9
PMID:17318302
Abstract

In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.

摘要

在9例与17号染色体相关的额颞叶痴呆和帕金森症（FTDP-17）且携带P301S tau突变的患者中，3例主要表现为额颞叶痴呆，6例主要表现为帕金森症。对携带该突变的tau基因型/单倍型与初始临床症状进行比较，结果显示H1/H1与帕金森症、H1/H2与人格改变之间存在关联。因此，携带该突变的tau单倍型和tau基因型可能在疾病全过程中与临床表型相关。

相似文献

1
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.与17号染色体相关且伴有P301S tau突变的额颞叶痴呆和帕金森综合征家系的临床及遗传学特征
J Neural Transm (Vienna). 2007 Jul;114(7):947-50. doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.
2
The effect of tau genotype on clinical features in FTDP-17.tau基因分型对额颞叶痴呆伴帕金森综合征17型临床特征的影响。
Parkinsonism Relat Disord. 2005 Jun;11(4):205-8. doi: 10.1016/j.parkreldis.2005.01.003.
3
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.两名表型不同的与17号染色体连锁的额颞叶痴呆和帕金森综合征P301L突变患者tau基因的对比基因型。
J Neurol. 2002 Jun;249(6):669-75. doi: 10.1007/s00415-002-0687-3.
4
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.一个犹太家庭中伴有P301S tau基因突变的额颞叶痴呆和帕金森综合征
J Neurol. 2003 Jun;250(6):733-40. doi: 10.1007/s00415-003-1074-4.
5
Frontotemporal dementia and Parkinsonism linked to chromosome 17 in a young Australian patient with the G389R Tau mutation.一名患有G389R Tau突变的年轻澳大利亚患者中，额颞叶痴呆和帕金森综合征与17号染色体相关。
Neuropathol Appl Neurobiol. 2008 Jun;34(3):366-70. doi: 10.1111/j.1365-2990.2007.00918.x. Epub 2007 Dec 7.
6
Molecular genetics of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).与17号染色体相关的额颞叶痴呆和帕金森综合征的分子遗传学（FTDP - 17）
Folia Neuropathol. 2002;40(3):111-8.
7
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).与17号染色体相关的额颞叶痴呆和帕金森综合征（FTDP-17）
Orphanet J Rare Dis. 2006 Aug 9;1:30. doi: 10.1186/1750-1172-1-30.
8
Tau gene mutations and tau pathology in frontotemporal dementia and parkinsonism linked to chromosome 17.
Adv Exp Med Biol. 2001;487:21-37. doi: 10.1007/978-1-4615-1249-3_3.
9
Frontotemporal lobar degeneration. An update on clinical, pathological and genetic findings.额颞叶痴呆。临床、病理及遗传学研究进展
Gerontology. 2001 Jan-Feb;47(1):1-8. doi: 10.1159/000052763.
10
Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.与17号染色体相关的额颞叶痴呆和帕金森综合征的表型变异
Dement Geriatr Cogn Disord. 2004;17(4):261-4. doi: 10.1159/000077150.

引用本文的文献

1
Behavioral and Neuropathological Phenotyping of the Tau58/2 and Tau58/4 Transgenic Mouse Models for FTDP-17.用于额颞叶痴呆伴帕金森综合征17型（FTDP-17）的Tau58/2和Tau58/4转基因小鼠模型的行为和神经病理学表型分析
Life (Basel). 2023 Oct 20;13(10):2088. doi: 10.3390/life13102088.
2
Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review.极早发性额颞叶痴呆：一例病例报告及文献复习。
J Alzheimers Dis. 2022;90(3):1139-1151. doi: 10.3233/JAD-220679.
3
Pathogenic tau recruits wild-type tau into brain inclusions and induces gut degeneration in transgenic SPAM mice.

本文引用的文献

1
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.一个犹太家庭中伴有P301S tau基因突变的额颞叶痴呆和帕金森综合征
J Neurol. 2003 Jun;250(6):733-40. doi: 10.1007/s00415-003-1074-4.
2
Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin.一名犹太裔阿尔及利亚患者中17号染色体型P301S帕金森病合并额颞叶痴呆的表型表现
Mov Disord. 2003 May;18(5):595-8. doi: 10.1002/mds.10401.
3
Hereditary tauopathies and parkinsonism.遗传性tau蛋白病与帕金森症
致病tau 招募野生型 tau 进入脑内包涵体，并在转基因 SPAM 小鼠中诱导肠道退化。
Commun Biol. 2022 May 12;5(1):446. doi: 10.1038/s42003-022-03373-1.
4
Tau and MAPT genetics in tauopathies and synucleinopathies.tau 蛋白和 MAPT 基因在 tau 病和突触核蛋白病中的作用。
Parkinsonism Relat Disord. 2021 Sep;90:142-154. doi: 10.1016/j.parkreldis.2021.09.008. Epub 2021 Sep 14.
5
Tauopathy and Movement Disorders-Unveiling the Chameleons and Mimics.tau蛋白病与运动障碍——揭示变色龙与模仿者
Front Neurol. 2020 Nov 5;11:599384. doi: 10.3389/fneur.2020.599384. eCollection 2020.
6
A MultiTEP platform-based epitope vaccine targeting the phosphatase activating domain (PAD) of tau: therapeutic efficacy in PS19 mice.基于 MultiTEP 平台的靶向 tau 磷酸酶激活结构域 (PAD) 的表位疫苗：在 PS19 小鼠中的治疗效果。
Sci Rep. 2019 Oct 29;9(1):15455. doi: 10.1038/s41598-019-51809-2.
7
Bioluminescence Imaging Used to Monitor Disease Activity and Therapeutic Response in a Mouse Model of Tauopathy.生物发光成像用于监测tau蛋白病小鼠模型中的疾病活动和治疗反应。
Front Aging Neurosci. 2019 Sep 12;11:252. doi: 10.3389/fnagi.2019.00252. eCollection 2019.
8
Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes.基因工程 iPSC 衍生的 FTDP-17 MAPT 神经元显示突变特异性神经退行性和神经发育表型。
Stem Cell Reports. 2018 Aug 14;11(2):363-379. doi: 10.1016/j.stemcr.2018.06.022. Epub 2018 Jul 26.
9
Parkinsonism, movement disorders and genetics in frontotemporal dementia.额颞叶痴呆中的帕金森病、运动障碍和遗传学。
Nat Rev Neurol. 2016 Mar;12(3):175-85. doi: 10.1038/nrneurol.2016.14. Epub 2016 Feb 19.
10
Piericidin A aggravates Tau pathology in P301S transgenic mice.粉蝶霉素A加重P301S转基因小鼠的 Tau 病理变化。
PLoS One. 2014 Dec 1;9(12):e113557. doi: 10.1371/journal.pone.0113557. eCollection 2014.
Adv Neurol. 2003;91:153-63.
4
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.皮质基底节变性和进行性核上性麻痹共享一种常见的tau单倍型。
Neurology. 2001 Jun 26;56(12):1702-6. doi: 10.1212/wnl.56.12.1702.
5
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.一名因tau蛋白P301S突变导致额颞叶痴呆和帕金森综合征的日本患者。
Neurology. 2000 Oct 24;55(8):1224-7. doi: 10.1212/wnl.55.8.1224.
6
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.额颞叶痴呆伴帕金森综合征17型：一种由新突变引起的伴有帕金森综合征和癫痫发作的早发型表型。
Ann Neurol. 1999 Nov;46(5):708-15. doi: 10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k.
7
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.一个患有tau蛋白P301S突变的家族中的额颞叶痴呆和皮质基底节变性
J Neuropathol Exp Neurol. 1999 Jun;58(6):667-77. doi: 10.1097/00005072-199906000-00011.
8
Association of an extended haplotype in the tau gene with progressive supranuclear palsy.tau基因中一种扩展单倍型与进行性核上性麻痹的关联。
Hum Mol Genet. 1999 Apr;8(4):711-5. doi: 10.1093/hmg/8.4.711.
9
Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy.高加索人群与日本人群tau基因中二核苷酸重复多态性的差异：对进行性核上性麻痹的意义。
Neurosci Lett. 1998 Jul 3;250(2):135-7. doi: 10.1016/s0304-3940(98)00417-0.