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帕金森病——临床现象学、病因学、病理学和发病机制的争议。

Parkinson's disease--the debate on the clinical phenomenology, aetiology, pathology and pathogenesis.

机构信息

Neurodegenerative Diseases Research Group, Institute of Pharmaceutical Sciences, School of Biomedical Sciences, King's College, London, UK.

出版信息

J Parkinsons Dis. 2013;3(1):1-11. doi: 10.3233/JPD-130175.

DOI:10.3233/JPD-130175
PMID:23938306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4078250/
Abstract

The definition of Parkinson's disease (PD) is changing with the expansion of clinical phenomenology and improved understanding of environmental and genetic influences that impact on the pathogenesis of the disease at the cellular and molecular level. This had led to debate and discussion with as yet, no general acceptance of the direction that change should take either at the level of diagnosis or of what should and should not be sheltered under an umbrella of PD. This article is one contribution to this on-going discussion. There are two different themes running through the article--widening the definition of PD/LBD/synucleinopathies and the heterogeneity that exists within PD itself from a clinical, pathological and genetic perspective. The conclusion reached is that in the future, further diagnostic categories will need to be recognized. These are likely to include--Parkinson's syndrome, Parkinson's syndrome likely to be Lewy body PD, clinical PD (defined by QSBB criteria), Lewy body disease (PD, LBD, REM SBD) and synucleinopathies (including LBD, MSA).

摘要

帕金森病(PD)的定义随着临床表型的扩展以及对环境和遗传因素在细胞和分子水平上影响疾病发病机制的认识的提高而不断变化。这导致了在诊断水平和哪些应该和不应该被归类为 PD 保护伞下的疾病方面存在争议和讨论,但目前尚未达成普遍共识。本文是对这一持续讨论的贡献之一。本文有两个不同的主题贯穿始终——扩大 PD/LBD/突触核蛋白病的定义,以及从临床、病理和遗传角度来看 PD 本身存在的异质性。得出的结论是,未来需要认识到进一步的诊断类别。这些可能包括——帕金森综合征、可能为路易体 PD 的帕金森综合征、临床 PD(由 QSBB 标准定义)、路易体病(PD、LBD、REM SBD)和突触核蛋白病(包括 LBD、MSA)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b895/4078250/705ee9b10648/emss-59297-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b895/4078250/705ee9b10648/emss-59297-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b895/4078250/705ee9b10648/emss-59297-f0001.jpg

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本文引用的文献

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Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.
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Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.葡萄糖脑苷脂酶突变影响基于社区的发病队列中帕金森病的自然史。
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α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
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Neuroprotective role for RORA in Parkinson's disease revealed by analysis of post-mortem brain and a dopaminergic cell line.通过对尸检大脑和多巴胺能细胞系的分析揭示RORA在帕金森病中的神经保护作用。
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