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早或晚——帕金森病因 Parkin 基因突变导致的诊断延迟。

The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.

机构信息

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

出版信息

Parkinsonism Relat Disord. 2019 Aug;65:284-285. doi: 10.1016/j.parkreldis.2019.06.020. Epub 2019 Jun 23.

DOI:10.1016/j.parkreldis.2019.06.020
PMID:31255538
Abstract

The diagnosis of Parkinson's disease (PD) in patients carrying mutations in the Parkin gene is frequently delayed. We confirmed this finding in a sample of nine biallelic Parkin-PD patients with a mean delay of nine years and found an inverse relationship between diagnostic delay and age at onset.

摘要

携带 Parkin 基因突变的帕金森病 (PD) 患者的诊断经常被延误。我们在一个平均诊断延迟 9 年的 9 例 Parkin-PD 双等位基因突变患者样本中证实了这一发现,并发现诊断延迟与发病年龄呈反比关系。

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The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.早或晚——帕金森病因 Parkin 基因突变导致的诊断延迟。
Parkinsonism Relat Disord. 2019 Aug;65:284-285. doi: 10.1016/j.parkreldis.2019.06.020. Epub 2019 Jun 23.
2
Diagnostic delay in Parkinson's disease caused by PRKN mutations.PRKN 基因突变导致的帕金森病诊断延迟。
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[Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].帕金森病的病因与发病机制:从线粒体功能障碍到家族性帕金森病
Rinsho Shinkeigaku. 2004 Apr-May;44(4-5):241-62.
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Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients.一组早发性帕金森病患者中帕金单杂合子和复合杂合子的嗅觉功能
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Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.巴西东北部一个遗传隔离群体中由新型帕金基因突变引起的早发性帕金森病。
Neurogenetics. 2006 Mar;7(1):13-9. doi: 10.1007/s10048-005-0017-x. Epub 2005 Nov 22.
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Case-control study of the parkin gene in early-onset Parkinson disease.早发性帕金森病中帕金基因的病例对照研究。
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Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.帕金森病蛋白多态性与环境暴露:帕金森病发病年龄降低
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The parkin gene is not involved in late-onset Parkinson's disease.帕金基因与晚发性帕金森病无关。
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引用本文的文献

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A Comprehensive Approach to Parkinson's Disease: Addressing Its Molecular, Clinical, and Therapeutic Aspects.帕金森病的综合治疗方法:探讨其分子、临床和治疗方面。
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Effects of a Concurrent Working Memory Task on Speech Acoustics in Parkinson's Disease.帕金森病患者在进行工作记忆任务时的语音声学特征变化。
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Quality of Life in Newly Diagnosed Patients With -Related Parkinson's Disease.
新诊断的与……相关帕金森病患者的生活质量。 (你原文中“with -Related”这里表述似乎不完整,应该是有具体相关因素没写全)
Front Neurol. 2020 Dec 18;11:580910. doi: 10.3389/fneur.2020.580910. eCollection 2020.
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Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.在中国内地散发早发性帕金森病患者队列中,Parkin 是最常见的致病基因。
Brain Behav. 2020 Sep;10(9):e01765. doi: 10.1002/brb3.1765. Epub 2020 Jul 16.