青年发病型帕金森病
Young-onset Parkinson disease
定义 英文原文（暂无中文）
A rare parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.
别名
早发帕金森病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 成年期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 11
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PINK1 | PTEN induced kinase 1 | Disease-causing germline mutation(s) in |
| SNCA | synuclein alpha | Candidate gene tested in |
| UCHL1 | ubiquitin C-terminal hydrolase L1 | Candidate gene tested in |
| HTRA2 | HtrA serine peptidase 2 | Candidate gene tested in |
| LRRK2 | leucine rich repeat kinase 2 | Candidate gene tested in |
| PRKN | parkin RBR E3 ubiquitin protein ligase | Disease-causing germline mutation(s) in |
| PARK7 | Parkinsonism associated deglycase | Disease-causing germline mutation(s) in |
| DNAJC6 | DnaJ heat shock protein family (Hsp40) member C6 | Disease-causing germline mutation(s) (loss of function) in |
| SYNJ1 | synaptojanin 1 | Disease-causing germline mutation(s) in |
| VPS13C | vacuolar protein sorting 13 homolog C | Disease-causing germline mutation(s) (loss of function) in |
| PODXL | podocalyxin like | Disease-causing germline mutation(s) (loss of function) in |
临床表型 34
极常见 99–80%1
- 强直 HP:0002063
常见 79–30%6
- 情感淡漠 HP:0000741
- 抑郁 HP:0000716
- 运动障碍 HP:0100660
- 幻觉 HP:0000738
- 姿势不稳 HP:0002172
- 震颤 HP:0001337
偶见 29–5%23
- 自主神经系统生理功能异常 HP:0012332
- 焦虑 HP:0000739
- 运动迟缓 HP:0002067
- 认知功能损害 HP:0100543
- 色觉缺陷 HP:0000551
- 便秘 HP:0002019
- 痴呆 HP:0000726
- 腹泻 HP:0002014
- 肌张力障碍 HP:0001332
- 女性性功能障碍 HP:0030014
- 步态失平衡 HP:0002141
- 胃轻瘫 HP:0002578
- 反射亢进 HP:0001347
- 嗅觉减退 HP:0004409
- 失眠 HP:0100785
- 男性性功能障碍 HP:0040307
- 肌肉痉挛 HP:0003394
- 恶心 HP:0002018
- 惊恐发作（急性焦虑发作） HP:0025269
- 社交反应能力下降 HP:0012760
- 不宁腿 HP:0012452
- 注意力短暂 HP:0000736
- 痉挛 HP:0001257
罕见 <4–1%4
- 焦虑不安 HP:0000713
- 复视 HP:0000651
- 额叶痴呆 HP:0000727
- 冲动 HP:0100710
近两年的全球研究 8L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 8 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-04开放获取From accepting to distancing as different coping strategies in persons with young onset Parkinson's disease
- 2026-03Long-Term Outcomes of Subthalamic Nucleus and Globus Pallidus Interna Deep Brain Stimulation for Young-Onset Parkinson Disease
- 2026-02开放获取Revisiting Minamata disease through computational phenotypic similarity analysis
- 2026-02Generation of induced pluripotent stem cells (NIMHi027-A) from a Parkinson's disease patient harbouring a homozygous missense mutation for PLA2G6 gene (chr22:g.38112558C > T)
- 2025-12病例报告开放获取Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report
- 2025-10Generation of induced pluripotent stem cells (NIMHi018-A) from a Parkinson's disease patient harbouring a heterozygous missense mutation for PINK1 variant c.1208G > A, p.Trp403Ter
- 2025-05开放获取Interventions to improve awareness and reduce the stigma associated with neurodegenerative conditions in minority ethnic communities: A scoping review protocol
- 2025-04开放获取R406 and its structural analogs reduce SNCA/α-synuclein levels via autophagic degradation
在中国开展的临床试验 184L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 4
- 招募中NCT03508960Chinese EOPD Registry中国研究中心 1 个：Changsha
- 招募中NCT06608355The Safety, Tolerability and Preliminary Efficacy of NouvNeu001 for Early-onset Parkinson's Disease中国研究中心 1 个：Wuhan
- 招募中NCT07166757Clinical Study to Evaluate XS411 in Treatment of Early-onset Parkinson's Disease中国研究中心 1 个：Shanghai
- 尚未开始招募NCT07741045Phase Ⅲ Clinical Trial to Evaluate the Efficacy and Safety of TJ0113 Capsules in Patients With Early-Onset Parkinson's Disease中国研究中心 21 个：Beijing、Changsha、Chengdu、Chongqing、Guangzhou、Hangzhou 等 15 地
宽泛匹配的在招试验（57 项）
这些试验只被更宽泛的病名命中（例如用「帕金森病」检索「青年型帕金森病」），很可能并不针对本病。逐条看标题再判断。
- Chinese PD-GBA Registry中国研究中心 1 个：Changsha
- Chinese PD Registry中国研究中心 1 个：Changzhi
- Light Therapy in Parkinson's Disease中国研究中心 1 个：Suzhou
- Application of AI Technology for the Diagnosis and Treatment of Geriatric Diseases中国研究中心 1 个：Jinan
- 7.0T Magnetic Resonance Imaging Study of Parkinson's Disease中国研究中心 1 个：Beijing
- Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving RBD with Parkinson's Disease中国研究中心 1 个：Beijing
- Pembrolizumab Plus Chemo in Neoadjuvant Treatment of Esophageal Squamous Cell Carcinoma (Eastern Cooperative Thoracic Oncology Projects 2004, ECTOP-2004)中国研究中心 2 个：Shanghai
- Plasma a-Synuclein Aggregation Seeding Activity as a Novel Biomarker for Neurodegeneration Disease中国研究中心 1 个：Beijing
- Effect and Mechanism of Brain Stimulation for Parkinson's Disease With Cognitive Impairment中国研究中心 1 个：Tianjin
- Integrated Digital and Neurogenic Exosome Biomarkers for Early Diagnosis of Parkinson's Disease: Development and Application中国研究中心 1 个：Fuzhou
- The Safety, Tolerability and Efficacy of NouvNeu001 for Parkinson's Disease中国研究中心 2 个：Beijing、Wuhan
- AV133 Longitudinal Imaging Study in Patients With Early and Prdromal Parkinson's Disease中国研究中心 1 个：Beijing
- Efficacy of Acupuncture for the Treatment of Parkinson's Disease Related Constipation中国研究中心 1 个：Xi'an
- AI-Enhanced Optimization of Acute Levodopa Challenge Test中国研究中心 1 个：Beijing
- Substudy 06D: Combination Therapies in Second Line (2L) Gastroesophageal Adenocarcinoma (MK-3475-06D/Keymaker-U06)中国研究中心 8 个：Beijing、Fuzhou、Hangzhou、Nanchang、Shanghai、Xiamen 等 8 地
- Neural Mechanisms and Clinical Applications of DBS for Modulating Sleep Dysregulation in PD中国研究中心 1 个：Beijing
- An Open-label Study on the Clinical Efficacy of rTMS Intervention in PD中国研究中心 1 个：Hefei
- The Efficacy of Olfactory Training Intervention on Olfactory and Other Non-motor Symptoms in PD中国研究中心 1 个：Hefei
- Impact of Frequency-specific Subthalamic Nucleus Subregion Stimulation on Inhibitory Control in Parkinson's Disease中国研究中心 1 个：Beijing
- A Randomized Double-Blind Active-Controlled Crossover Trial of Respiratory-Gated Versus Non-Gated Transcutaneous Auricular Vagus Nerve Stimulation for the Treatment of Motor and Non-Motor Symptoms in Parkinson's Disease中国研究中心 1 个：Hefei
其他状态的试验（123 项）
- Randomized Single-blind Placebo Controlled Comparative Trial of Pramipexole and Bromocriptine in Parkinson's Disease中国研究中心 7 个：Beijing、Shanghai
- Efficacy and Safety of Lingzhi in Patients With Early Parkinson's Disease中国研究中心 1 个：Beijing
- Efficacy and Safety of Green Tea Polyphenol in De Novo Parkinson's Disease Patients中国研究中心 1 个：Beijing
- Treatment of Depression in Parkinson's Disease中国研究中心 1 个：Beijing
- Clinical Trial on the Effectiveness of Traditional Chinese Medicinal Mixture in Parkinson Disease中国研究中心 10 个：Beijing、Shanghai、Wenzhou
- A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel Group Study of Six Months Treatment With Ropinirole PR as Adjunctive Therapy in Patients With Parkinson's Disease Who Are Not Optimally Controlled on L-Dopa中国研究中心 10 个：Beijing、Chengdu、Guangzhou、Hangzhou、Kunming、Shanghai 等 10 地
- Ropinirole PR Pharmacokinetics Study Among Chinese Healthy Subjects中国研究中心 1 个：Beijing
- Pramipexole Extended Release Versus Pramipexole Immediate Release for 18 Weeks in Chinese Parkinson's Disease (PD) Patients中国研究中心 20 个：Beijing、Chengdu、Chongqing、Guangzhou、Hangzhou、Jinan 等 11 地
- Open-Label Extension Study With REQUIP PR for Subjects From Study ROP111528中国研究中心 10 个：Beijing、Chengdu、Guangzhou、Hangzhou、Kunming、Shanghai 等 10 地
- The Effects of Sertraline on Depression in Parkinson's Disease中国研究中心 1 个：Hangzhou
- Clinical Trial of Rasagiline in Levodopa-Treated Parkinson's Disease Patients With Motor Fluctuations中国研究中心 8 个：Chengdu、Chenzhou、Chongqing、Guilin、Lanzhou、Luzhou 等 8 地
- Azilect® (Rasagiline) in Levodopa-treated Parkinson's Patients With Motor Fluctuations in China中国研究中心 18 个：Beijing、Chengdu、Guangzhou、Hangzhou、Qingyu Zhou、Shanghai 等 10 地
- Remifentanil Requirement in Patients Receiving Surgical Treatment of Parkinson's Disease中国研究中心 1 个：Shanghai
- Pharmacokinetic Properties of Rasagiline (Lu 00-773) in Healthy Young Chinese Men and Women中国研究中心 1 个：Beijing
- Rotigotine Versus Placebo, A Study To Evaluate The Efficacy In Advanced Stage Idiopathic Parkinson's Disease Patients中国研究中心 24 个：Beijing、Changchun、Chengdu、Fuzhou、Guangzhou、Hangzhou 等 11 地
- Rotigotine Versus Placebo As Double Blind Study To Evaluate The Efficacy In Early Stage Idiopathic Parkinson's Disease Patients中国研究中心 24 个：Beijing、Changchun、Chengdu、Fuzhou、Guangzhou、Hangzhou 等 11 地
- A Retrospective Study of the Effects of Different Parameters on Motor Symptoms of PD in Bilateral STN Stimulation中国研究中心 1 个：Guangzhou
- Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysis中国研究中心 1 个：Wenzhou
- Early Versus Late Application of STN DBS to PD Patients With Motor Complications中国研究中心 1 个：Guangzhou
- Effect of SQJZ Herbal Mixtures on Non-motor Symptoms of Parkinson's Disease中国研究中心 1 个：Beijing
- Repetitive Transcranial Magnetic Stimulation (rTMS) Treatment for Parkinson Disease中国研究中心 1 个：Hefei
- rTMS for the Treatment of Freezing of Gait in Parkinson's Disease中国研究中心 1 个：Beijing
- The Profile of the Depression and it's Intervention Strategy in Patients With Parkinson's Disease in China中国研究中心 4 个：Nanjing、Shanghai
- Safety and Initial Effectiveness of Transcranial MR Guided Focused Ultrasound for the Treatment of Parkinson's Disease中国研究中心 1 个：Zhengzhou
- Efficacy and Safety Study of Pembrolizumab (MK-3475) Versus Paclitaxel in Asian Participants With Advanced Gastric or Gastroesophageal Junction Adenocarcinoma Who Progressed After First-line Therapy With Platinum and Fluoropyrimidine (MK-3475-063/KEYNOTE-063)中国研究中心 25 个：Beijing、Changchun、Changsha、Changzhou、Fuzhou、Hangzhou 等 13 地
- Study of Quavonlimab (MK-1308) in Combination With Pembrolizumab (MK-3475) in Advanced Solid Tumors (MK-1308-001)中国研究中心 3 个：Beijing、Chongqing、Hangzhou
- Follow Up Study for Treatment of Parkinson's Disease With Subthalamic Deep Brain Stimulation中国研究中心 1 个：Shanghai
- Evaluate the Effectiveness and Safety of Variable Frequency Stimulation Compared With Constant Frequency Stimulation for Patients With Idiopathic Parkinson's Disease中国研究中心 9 个：Beijing、Dalian、Nanjing、Shanghai、Shenyang、Shenzhen
- the Prevalence of "Wearing-off" in Patients With Parkinson's Disease in Shanghai中国研究中心 1 个：Shanghai
- Individualized Precise Localization of rTMS on Primary Motor Area中国研究中心 2 个：Hangzhou
- A Multiple Ascending Dose Study With LY03003 in Patients With Early-stage Parkinson's Disease中国研究中心 3 个：Beijing、Shenyang
- Dopaminergic Mechanism of Memory Impairment in Parkinson's Disease中国研究中心 1 个：Beijing
- Application of Tremor Analysis in Parkinson's Disease and Its Related Diseases中国研究中心 1 个：Beijing
- Effects of Lingzhi on Disease Progression in Patients With Untreated Early Parkinson's Disease中国研究中心 1 个：Beijing
- PD-1 Antibody Expressing mesoCAR-T Cells for Mesothelin Positive Advanced Solid Tumor中国研究中心 1 个：Shanghai
- A Pilot Study to Evaluate the Severity of Motor Dysfunction in Parkinson's Disease Based on AI Video Analysis中国研究中心 1 个：Shanghai
- Efficacy and Safety of Pembrolizumab (MK-3475) in Combination With Bacillus Calmette-Guerin (BCG) in High-Risk Non-Muscle Invasive Bladder Cancer (HR NMIBC) (MK-3475-676/KEYNOTE-676)中国研究中心 21 个：Beijing、Changsha、Chengdu、Chongqing、Guangzhou、Hangzhou 等 16 地
- Safety and Efficacy of Lenvatinib (E7080/MK-7902) in Combination With Pembrolizumab (MK-3475) Versus Lenvatinib as First-line Therapy in Participants With Advanced Hepatocellular Carcinoma (MK-7902-002/E7080-G000-311/LEAP-002)中国研究中心 19 个：Beijing、Changsha、Chengdu、Fuzhou、Guangzhou、Hangzhou 等 13 地
- STN-DBS and the Risk of Sialorrhea中国研究中心 1 个：Jinan
- A Follow-up of the Influencing Factors of Dyskinesia in Patients With Parkinson's Disease中国研究中心 1 个：Shanghai
另有 83 项未列出。
中国境外的在招试验 9L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国2葡萄牙1意大利1英国1
CT.gov 报告命中 9 项，此处取回并展示最近的 5 项。
- 尚未开始招募NCT07267065AAV2-hAADC for Parkinson's Disease (PDCS-01)美国
- 招募中NCT07310147Empower Your Mind to Embrace Your Life: an Online ACT Intervention for Young-Onset Parkinson's Disease葡萄牙
- 招募中NCT07235111Omics Sciences for the Identification of Pathogenetic Mechanisms and Biomarkers in Neurodegenerative Diseases意大利
- 招募中NCT07752355Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms美国
- 招募中NCT02760108Parkinson's Families Project英国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）