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Variably protease-sensitive prionopathy: A differential diagnostic consideration for dementia.可变蛋白酶敏感性朊蛋白病:痴呆的鉴别诊断考量
Neurol Clin Pract. 2019 Apr;9(2):145-151. doi: 10.1212/CPJ.0000000000000612.
2
Variably protease-sensitive prionopathy in the UK: a retrospective review 1991-2008.英国变异性蛋白酶敏感朊病毒病:1991-2008 年回顾性研究。
Brain. 2013 Apr;136(Pt 4):1102-15. doi: 10.1093/brain/aws366.
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Variably protease-sensitive prionopathy mimicking frontotemporal dementia.模仿额颞叶痴呆的可变蛋白酶敏感性朊病毒病
Neuropathology. 2019 Apr;39(2):135-140. doi: 10.1111/neup.12538. Epub 2019 Mar 7.
4
Variably protease-sensitive prionopathy.可变蛋白酶敏感性朊病毒病
Handb Clin Neurol. 2018;153:175-190. doi: 10.1016/B978-0-444-63945-5.00010-6.
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Variably protease-sensitive prionopathy: a novel disease of the prion protein.可变蛋白酶敏感朊病毒病:一种新型的朊病毒蛋白病。
J Mol Neurosci. 2011 Nov;45(3):422-4. doi: 10.1007/s12031-011-9543-1. Epub 2011 May 17.
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Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.变异性蛋白酶敏感朊病毒病:一种新型的朊病毒蛋白散发性疾病。
Ann Neurol. 2010 Aug;68(2):162-72. doi: 10.1002/ana.22094.
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A novel human disease with abnormal prion protein sensitive to protease.一种新型人类疾病,其朊病毒蛋白异常且对蛋白酶敏感。
Ann Neurol. 2008 Jun;63(6):697-708. doi: 10.1002/ana.21420.
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Sporadic human prion diseases: molecular insights and diagnosis.散发性人类朊病毒病:分子见解与诊断。
Lancet Neurol. 2012 Jul;11(7):618-28. doi: 10.1016/S1474-4422(12)70063-7.
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A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.一种新型人类疾病,其朊病毒蛋白具有蛋白酶敏感性,且 129 密码子处存在蛋氨酸/缬氨酸杂合性:病例报告。
BMC Neurol. 2010 Oct 25;10:99. doi: 10.1186/1471-2377-10-99.
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Prions in variably protease-sensitive prionopathy: an update.变异性克雅氏病中可溶蛋白酶敏感的朊病毒:更新。
Pathogens. 2013 Jul 5;2(3):457-71. doi: 10.3390/pathogens2030457.

引用本文的文献

1
Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene.朊病毒蛋白基因第 129 密码子蛋氨酸纯合的可变蛋白酶敏感朊病毒病。
BMJ Case Rep. 2024 Feb 22;17(2):e258199. doi: 10.1136/bcr-2023-258199.
2
Human prion diseases and the prion protein - what is the current state of knowledge?人类朊病毒疾病与朊病毒蛋白——当前的知识状况如何?
Transl Neurosci. 2023 Oct 16;14(1):20220315. doi: 10.1515/tnsci-2022-0315. eCollection 2023 Jan 1.
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Clinical Use of Improved Diagnostic Testing for Detection of Prion Disease.改良诊断检测在朊病毒病检测中的临床应用。
Viruses. 2021 Apr 28;13(5):789. doi: 10.3390/v13050789.

本文引用的文献

1
Variably protease-sensitive prionopathy.可变蛋白酶敏感性朊病毒病
Handb Clin Neurol. 2018;153:175-190. doi: 10.1016/B978-0-444-63945-5.00010-6.
2
The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias.快速进展性神经退行性痴呆症中的 CSF 神经丝轻链特征。
Alzheimers Res Ther. 2018 Jan 11;10(1):3. doi: 10.1186/s13195-017-0331-1.
3
Human prion diseases: surgical lessons learned from iatrogenic prion transmission.人类朊病毒病:从医源性朊病毒传播中吸取的外科教训。
Neurosurg Focus. 2016 Jul;41(1):E10. doi: 10.3171/2016.5.FOCUS15126.
4
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.
5
A case of variably protease-sensitive prionopathy treated with doxycyclin.一例用强力霉素治疗的蛋白酶敏感性可变的朊病毒病病例。
J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):816-8. doi: 10.1136/jnnp-2014-309871. Epub 2015 Jan 9.
6
Prions in variably protease-sensitive prionopathy: an update.变异性克雅氏病中可溶蛋白酶敏感的朊病毒:更新。
Pathogens. 2013 Jul 5;2(3):457-71. doi: 10.3390/pathogens2030457.
7
Transmission characteristics of variably protease-sensitive prionopathy.可变蛋白酶敏感性朊病毒病的传播特征
Emerg Infect Dis. 2014 Dec;20(12):2006-14. doi: 10.3201/eid2012.140548.
8
Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties.可变蛋白酶敏感性朊病毒病,一种具有低效传播特性的独特朊病毒变体。
Emerg Infect Dis. 2014 Dec;20(12):1969-79. doi: 10.3201/eid2012.140214.
9
Variably Protease-sensitive Prionopathy in an Apparent Cognitively Normal 93-Year-Old.一名看似认知正常的93岁老人的可变蛋白酶敏感性朊病毒病
Alzheimer Dis Assoc Disord. 2015 Apr-Jun;29(2):173-6. doi: 10.1097/WAD.0000000000000049.
10
Sporadic human prion diseases: molecular insights and diagnosis.散发性人类朊病毒病:分子见解与诊断。
Lancet Neurol. 2012 Jul;11(7):618-28. doi: 10.1016/S1474-4422(12)70063-7.

可变蛋白酶敏感性朊蛋白病:痴呆的鉴别诊断考量

Variably protease-sensitive prionopathy: A differential diagnostic consideration for dementia.

作者信息

Kim Stella H, Yu Melissa M, Strutt Adriana M

机构信息

Baylor College of Medicine, Houston, TX.

出版信息

Neurol Clin Pract. 2019 Apr;9(2):145-151. doi: 10.1212/CPJ.0000000000000612.

DOI:10.1212/CPJ.0000000000000612
PMID:31041129
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6461425/
Abstract

PURPOSE OF REVIEW

Prion diseases are rare neurodegenerative diseases that are caused by abnormal pathogenic agents and can affect both humans and animals. These diseases are categorized as sporadic, inherited, or acquired by infection. Clinical manifestations include psychiatric symptoms, cognitive impairment, and parkinsonism, which are similar to those of other prion diseases and frontotemporal dementia variants.

RECENT FINDINGS

More recently, scientists discovered a new sporadic prion disease called variably protease-sensitive prionopathy.

SUMMARY

The following case discusses a patient presenting with sudden onset and rapid decline in cognitive, neurobehavioral, and motor functioning and his clinical journey including treatment interventions and diagnostic confirmation.

摘要

综述目的

朊病毒病是由异常病原体引起的罕见神经退行性疾病,可影响人类和动物。这些疾病分为散发性、遗传性或感染性。临床表现包括精神症状、认知障碍和帕金森综合征,与其他朊病毒病和额颞叶痴呆变体相似。

最新发现

最近,科学家发现了一种新的散发性朊病毒病,称为可变蛋白酶敏感性朊病毒病。

总结

以下病例讨论了一名患者,其出现认知、神经行为和运动功能突然发作并迅速衰退,以及他的临床历程,包括治疗干预和诊断确认。