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 9L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 9 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-05开放获取Abstracts of the 7th World Parkinson Congress
- 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 189L2
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（58 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-LRRK2 Registry中国研究中心 1 个：Changsha
- Chinese PD Registry中国研究中心 1 个：Changzhi
- Chinese PD-SNCA Registry中国研究中心 1 个：Changsha
- Chinese FPD Registry中国研究中心 1 个：Changsha
- Chinese PD-GBA Registry中国研究中心 1 个：Changsha
- Safety and Efficacy of Autologous iNSC-DAP in the Treatment of Parkinson's Disease中国研究中心 1 个：Beijing
- 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
- Neoadjuvant Immunotherapy and Chemoradiotherapy for Locally Advanced Esophagogastric Junction Adenocarcinoma中国研究中心 1 个：Beijing
- A Study to Evaluate Investigational Agents With or Without Pembrolizumab (MK-3475) in Participants With Advanced Esophageal Cancer Previously Exposed to Programmed Cell Death 1 Protein (PD-1)/ Programmed Cell Death Ligand 1 (PD-L1) Treatment (MK-3475-06B)中国研究中心 8 个：Beijing、Hangzhou、Hefei、Huai'an、Shanghai、Xiamen 等 8 地
- Effects of Propofol on Brain Function in Patients With Parkinson's Disease中国研究中心 1 个：Beijing
- Study on Artificial Intelligence-Based Facial and Speech-Related Patterns in Parkinson's Disease and Their Digital Biomarkers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
- The Relation Between the Prognosis of Subthalamic Nucleus Deep Brain Stimulation Surgery by Microlesion Effect and Electrode Position中国研究中心 1 个：Nanchang
- The Safety, Tolerability and Efficacy of NouvNeu001 for Parkinson's Disease中国研究中心 2 个：Beijing、Wuhan
- Constant Current Versus Constant Voltage Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease中国研究中心 1 个：Beijing
- A Study Assessing the Effects of Acupuncture in Parkinson's Disease Patients With Chronic Appendicitis中国研究中心 1 个：Hefei
- Efficacy of Acupuncture for the Treatment of Parkinson's Disease Related Constipation中国研究中心 1 个：Xi'an
- Mechanism and Application of DBS in the Treatment of PD中国研究中心 1 个：Beijing
其他状态的试验（127 项）
- 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 Herbal 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
- The Effect of Pramipexole on Metabolic Network Activity Compared With Levodopa in Early Parkinson's Disease中国研究中心 1 个：Shanghai
- Requirement of Propofol for Induction of Unconsciousness in Patients With 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
- 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
- A Retrospective Study of the Relationship Between White Matter Hyperintensities(WMHs) Within the Cholinergic Pathways and the Cognition of PD Patients After Bilateral STN DBS中国研究中心 1 个：Guangzhou
- Variable Frequency Stimulation of Subthalamic Nucleus for Freezing of Gait in Parkinson's Disease中国研究中心 2 个：Beijing
- Effects of Bilateral GPI DBS on Freezing of Gait in PD中国研究中心 1 个：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
- A Study of Carboplatin-Paclitaxel/Nab-Paclitaxel Chemotherapy With or Without Pembrolizumab (MK-3475) in Adults With First Line Metastatic Squamous Non-small Cell Lung Cancer (MK-3475-407/KEYNOTE-407)-China Extension Study中国研究中心 1 个：Shanghai
- Safety and Efficacy Study of Human ESC-derived Neural Precursor Cells in the Treatment of Parkinson's Disease中国研究中心 1 个：Zhengzhou
- Follow Up Study for Treatment of Parkinson's Disease With Subthalamic Deep Brain Stimulation中国研究中心 1 个：Shanghai
- Deep Brain Stimulation (DBS) for Parkinson's Disease International Study中国研究中心 7 个：Beijing、Chengdu、Guangzhou、Shanghai、Shenyang、Xi'an
- The Safety of Remote DBS Programming System中国研究中心 1 个：Shanghai
- A Single-dose Study to Investigate the Tolerance and Pharmacokinetics of Finamine Tablets in China中国研究中心 1 个：Shijiazhuang
- 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
- Individualized Precise Localization of rTMS on Primary Motor Area中国研究中心 2 个：Hangzhou
- Study of Pembrolizumab (MK-3475) Plus Chemotherapy Versus Placebo Plus Chemotherapy in Participants With Gastric or Gastroesophageal Junction (GEJ) Adenocarcinoma (MK-3475-585/KEYNOTE-585)中国研究中心 3 个：Beijing、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
- The Study of Acupuncture on Vascular and Functional Neuroimaging in Parkinson's Disease Patients With Sleep Disorders中国研究中心 1 个：Beijing
- The SUSTAIN Study Compares the Effects of Sustained and Immediate-release Pramipexole on the noctUrnal Symptoms of paTients With Advanced ParkInsoN's Disease Who Also Take L-Dopa中国研究中心 12 个：Beijing、Chengdu、Guangzhou、Hangzhou、Nanjing、Shanghai 等 11 地
- Effects of Lingzhi on Disease Progression in Patients With Untreated Early Parkinson's Disease中国研究中心 1 个：Beijing
- Efficacy and Safety of Rotigotine in the Treatment of Patients With Early Stage of Primary Parkinson's Disease中国研究中心 1 个：Beijing
- 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
- Pembrolizumab/Placebo Plus Trastuzumab Plus Chemotherapy in Human Epidermal Growth Factor Receptor 2 Positive (HER2+) Advanced Gastric or Gastroesophageal Junction (GEJ) Adenocarcinoma (MK-3475-811/KEYNOTE-811)中国研究中心 19 个：Beijing、Changchun、Changsha、Fuzhou、Guangzhou、Hangzhou 等 12 地
- A Clinical Trial to Evaluate the Pharmacodynamics/Pharmacokinetics and Safety of LY03003 in Early PD Patients中国研究中心 1 个：Shenyang
- Pembrolizumab (MK-3475) Plus Chemotherapy Versus Placebo Plus Chemotherapy in Participants Gastric or Gastroesophageal Junction (GEJ) Adenocarcinoma (MK-3475-859/KEYNOTE-859)中国研究中心 29 个：Beijing、Changchun、Changsha、Changzhou、Fuzhou、Guangzhou 等 20 地
- Pembrolizumab (MK-3475) Plus Chemotherapy Versus Placebo Plus Chemotherapy in Participants Gastric or Gastroesophageal Junction (GEJ) Adenocarcinoma (MK-3475-859/KEYNOTE-859)-China Extension中国研究中心 28 个：Beijing、Changchun、Changsha、Changzhou、Fuzhou、Guangzhou 等 19 地
- STN-DBS and the Risk of Sialorrhea中国研究中心 1 个：Jinan
- Safety and Efficacy Study of Pemetrexed + Platinum Chemotherapy + Pembrolizumab (MK-3475) With or Without Lenvatinib (MK-7902/E7080) as First-line Intervention in Adults With Metastatic Nonsquamous Non-small Cell Lung Cancer (MK-7902-006/E7080-G000-315/LEAP-006)中国研究中心 19 个：Beijing、Changchun、Chongqing、Fuzhou、Guangzhou、Hangzhou 等 13 地
- Study of First-line Pembrolizumab (MK-3475) With Lenvatinib (MK-7902/E7080) in Urothelial Carcinoma Cisplatin-ineligible Participants Whose Tumors Express Programmed Cell Death-Ligand 1 and in Participants Ineligible for Platinum-containing Chemotherapy (MK-7902-011/E7080-G000-317/ LEAP-011)中国研究中心 18 个：Beijing、Changsha、Chongging、Guangdong、Guangzhou、Hangzhou 等 13 地
另有 87 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
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）