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早发性帕金森病的实用处理方法。

A Practical Approach to Early-Onset Parkinsonism.

机构信息

The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, NYU Langone Health, New York, NY, USA.

IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

出版信息

J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815.

DOI:10.3233/JPD-212815
PMID:34569973
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8842790/
Abstract

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that are important to differentiate. Although rarer than classical late-onset Parkinson's disease (PD) and not infrequently overlapping with forms of juvenile onset PD, a correct diagnosis of the specific cause of EO parkinsonism is critical for offering appropriate counseling to patients, for family and work planning, and to select the most appropriate symptomatic or etiopathogenic treatments. Clinical features, radiological and laboratory findings are crucial for guiding the differential diagnosis. Here we summarize the most important conditions associated with primary and secondary EO parkinsonism. We also proposed a practical approach based on the current literature and expert opinion to help movement disorders specialists and neurologists navigate this complex and challenging landscape.

摘要

早发性帕金森病(EO 帕金森病)定义为发病年龄在 40 岁或 50 岁之前的患者,可作为多种疾病的主要临床表现,这些疾病需要进行重要的鉴别诊断。尽管其比经典的晚发性帕金森病(PD)少见,并且与青少年起病 PD 形式常有重叠,但正确诊断 EO 帕金森病的具体病因对于为患者提供适当的咨询、家庭和工作规划以及选择最合适的对症或病因治疗至关重要。临床特征、影像学和实验室发现对于指导鉴别诊断至关重要。本文总结了与原发性和继发性 EO 帕金森病相关的最重要的疾病。我们还根据当前的文献和专家意见提出了一种实用方法,以帮助运动障碍专家和神经科医生应对这一复杂且具有挑战性的领域。

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本文引用的文献

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Effects of head trauma and sport participation in young-onset Parkinson's disease.头部创伤和运动对青少年帕金森病的影响。
J Neural Transm (Vienna). 2021 Aug;128(8):1185-1193. doi: 10.1007/s00702-021-02370-8. Epub 2021 Jul 14.
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Early-Onset Parkinsonism and Early-Onset Parkinson's Disease: A Population-Based Study (2010-2015).早发性帕金森病与早发性帕金森病:基于人群的研究(2010-2015 年)。
J Parkinsons Dis. 2021;11(3):1197-1207. doi: 10.3233/JPD-202464.
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PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
一例青少年复发性缓解型阿尔茨海默病的历史病例,病因是猩红热。
J Alzheimers Dis Rep. 2025 Jan 14;9:25424823241298530. doi: 10.1177/25424823241298530. eCollection 2025 Jan-Dec.
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Challenging Diagnosis of Fahr's Disease Mimicking Parkinson's Disease: A Case Report.酷似帕金森病的 Fahr 病的疑难诊断:一例报告
Clin Case Rep. 2025 Feb 18;13(2):e70250. doi: 10.1002/ccr3.70250. eCollection 2025 Feb.
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Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.RAB39B 连锁帕金森病中左旋多巴诱导的早期运动并发症
Tremor Other Hyperkinet Mov (N Y). 2024 Nov 25;14:58. doi: 10.5334/tohm.946. eCollection 2024.
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Juvenile-onset Parkinson's Disease With Psychosis: Diagnostic and Therapeutic Challenges.青少年起病的帕金森病伴精神病:诊断与治疗挑战
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The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.p.Gly2019Ser是埃及家族性和散发性帕金森病患者中常见的LRRK2致病变体。
NPJ Parkinsons Dis. 2024 Nov 6;10(1):215. doi: 10.1038/s41531-024-00826-8.
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NPJ Parkinsons Dis. 2024 Oct 25;10(1):201. doi: 10.1038/s41531-024-00809-9.
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Analyzing Wav2Vec 1.0 Embeddings for Cross-Database Parkinson's Disease Detection and Speech Features Extraction.分析 Wav2Vec 1.0 嵌入以进行跨数据库帕金森病检测和语音特征提取。
Sensors (Basel). 2024 Aug 26;24(17):5520. doi: 10.3390/s24175520.
与PRKRA相关的疾病:除DYT16谱系外的双侧纹状体变性
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Eur J Med Genet. 2021 Jan;64(1):104123. doi: 10.1016/j.ejmg.2020.104123. Epub 2020 Dec 15.
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Ann Neurol. 2021 Jan;89(1):195-196. doi: 10.1002/ana.25945. Epub 2020 Nov 11.
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PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.PPP2R5D基因突变与早发性帕金森病
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