亨廷顿舞蹈病
Huntington disease
定义 英文原文（暂无中文）
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
别名
亨廷顿舞蹈症
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期、儿童期、老年期
- 患病率
- 1-9 / 100 000（Greece）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HTT | huntingtin | Disease-causing germline mutation(s) (gain of function) in |
| SLC2A3 | solute carrier family 2 member 3 | Modifying germline mutation in |
临床表型 53
极常见 99–80%3
- 舞蹈样运动 HP:0002072
- 反射亢进 HP:0001347
- 智能衰退 HP:0001268
常见 79–30%31
- 性欲异常 HP:0031845
- 眼球运动异常 HP:0000496
- 嗅觉异常 HP:0004408
- 攻击性行为 HP:0000718
- 焦虑不安 HP:0000713
- 焦虑 HP:0000739
- 情感淡漠 HP:0000741
- 运动迟缓 HP:0002067
- 思维过程异常缓慢 HP:0031843
- 笨拙 HP:0002312
- 强迫行为 HP:0000722
- 妄想 HP:0000746
- 抑郁 HP:0000716
- 脱抑制 HP:0000734
- 肌张力障碍 HP:0001332
- 步态异常 HP:0001288
- 步态异常 HP:0001288
- 步态失平衡 HP:0002141
- 泛发性肌无力 HP:0003324
- 幻觉 HP:0000738
- 愤怒 HP:0031473
- 运动减少 HP:0002375
- 不自主运动 HP:0004305
- 易激惹 HP:0000737
- 记忆障碍 HP:0002354
- 肌阵挛 HP:0001336
- 精细动作协调差 HP:0007010
- 癫痫发作 HP:0001250
- 言语表达困难 HP:0009088
- 凝视 HP:0025401
- 体重减轻 HP:0001824
偶见 29–5%19
- 脑白质形态异常 HP:0002500
- 胆固醇代谢异常 HP:0003107
- 酗酒 HP:0030955
- 巴彬斯基征 HP:0003487
- 尾状核萎缩 HP:0002340
- 脑萎缩 HP:0002059
- 窒息发作 HP:0030842
- 阵挛 HP:0002169
- 体重指数下降 HP:0045082
- 纹状体退行性变 HP:0040140
- 日间睡眠增多 HP:0001262
- 视空间结构认知障碍 HP:0010794
- 行走不能 HP:0002540
- 失眠 HP:0100785
- 缄默症 HP:0002300
- 口咽部吞咽困难 HP:0200136
- 多食 HP:0002591
- 强直 HP:0002063
- 自杀意念 HP:0031589
近两年的全球研究 2,284L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08综述Molecular switches of SQSTM1: the impact of post-translational modifications on autophagy and neurodegeneration
- 2026-08Wild-type C9orf72 drives proteasomal dysfunction and mutant aggregates via a Stat1-Isg15 axis in Huntington's disease
- 2026-08Fibrilpaint: A Class of Amyloid-Targeting Peptides
- 2026-08Cholesterol nose-to-brain delivery as a possible therapeutic strategy in Huntington's disease
- 2026-08Altered myelin sphingolipid and glycerophospholipid profiles in Huntington disease
- 2026-08The Recommendation Paradox: Perspectives on Genetic Testing in Huntington's Disease Families
- 2026-08Proteomic Impact of Peripheral Expression of Mutant Huntingtin in C. elegans
- 2026-08Exploring the association between antidepressants, progression and mortality in Huntington's disease
- 2026-07IL17A disrupts autophagy-lysosomal function and lysosome reformation through the GSK3B-TFE3 signaling pathway in Huntington disease
- 2026-07A novel machine learning approach for the classification of Huntington disease manifestation using motor features
- 2026-07USP28 Deficiency is Linked to Impaired Ubiquitin-dependent Proteostasis in Huntington's Disease
- 2026-07综述From glycemic control to neuroprotection: alogliptin as a repurposed candidate for Huntington's disease
- 2026-07Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2-Let-7g-LIN28 axis with rescue by epigenetic modulators
- 2026-07Understanding the cellular architecture of Huntington's disease
- 2026-07综述Astrocytic lipid dysregulation as an early driver of neurodegeneration
- 2026-07综述CRISPR-Cas9-based therapies for Huntington's disease and Friedreich's ataxia: mechanisms, advances, and future perspectives
- 2026-07综述Grape Seed Extract as an Adjuvant Therapy for Huntington Disease; A Narrative Review of Biological Plausibility and Potential Clinical Outcomes
- 2026-07The experiences of partners of individuals with pre-symptomatic Huntington's disease: a reflexive thematic analysis
- 2026-07Cortistatin as a modulator of inflammatory and mitochondrial dysfunction in Huntington´s disease
- 2026-07CDKN1A protects medium spiny neurons from Huntington's disease pathology
境外已获批用于本病的药物 1L2
欧盟 0 项、美国 1 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Ingrezza美国2023-08-18valbenazine官方记录
已获孤儿药资格、尚未获批的在研药物（1 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- 2,4-dinitrophenol美国2019-02-11Treatment of Huntington disease官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 12L2
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 3
- 招募中NCT07326709A Study to Investigate the Efficacy, Safety and Tolerability of Votoplam in Participants With Huntington's Disease中国研究中心 4 个：Changsha、Chengdu、Hangzhou、Wuhan
- 招募中NCT07513844Optimizing Parameters of Low-Intensity Focused Ultrasound for Pallidal Modulation in Huntington's Disease中国研究中心 1 个：Fuzhou
- 尚未开始招募NCT07516899Mass Balance Study of [14C] LPM3770164 in Healthy Participants中国研究中心 1 个：Wuxi
其他状态的试验（9 项）
- 状态未知NCT04244513Deep Brain Stimulation Treatment for Chorea in Huntington's Disease中国研究中心 3 个：Beijing、Chengdu、Guangzhou
- 状态未知NCT04071639Symptomatic Therapy for Patients With Huntington's Disease中国研究中心 1 个：Hangzhou
- 已完成NCT05238701A Dose-escalation Study to Evaluate the Safety, Tolerability and Pharmacokinetic of LPM3770164 in Healthy Subjects中国研究中心 1 个：Shanghai
- 已完成NCT06024265The Safety and Tolerability Study With ER2001 Intravenous Injection in Adults With Early Manifest Huntington's Disease中国研究中心 1 个：Guangzhou
- 已完成NCT06216054Safety, Tolerability and Pharmacokinetic of Multiple-ascending Doses of LPM3770164 in Healthy Subjects中国研究中心 1 个：Shanghai
- 已完成NCT07601516Real World Effectiveness and Safety of Deutetrabenazine in Adult Chinese Patients With Huntington's Disease (HD) Chorea in China中国研究中心 3 个：Beijing、Chengdu
- 已完成NCT07344519The Safety and Tolerability Study With ER2001 Intravenous Injection Repetitive Treatment in Adults With Early Manifest Huntington's Disease.中国研究中心 1 个：Guangzhou
- 已完成NCT06474650Effect of Food on the Pharmacokinetics of LPM3770164 Sustained-release Tablets中国研究中心 1 个：Shanghai
- 进行中·不再招募NCT07339514A Phase I Clinical Study of ER2001 Injection for the Treatment of Early Manifest Huntington's Disease.中国研究中心 3 个：Chengdu、Guangzhou
中国境外的在招试验 48L2
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20法国12英国6比利时5加拿大5德国5荷兰5意大利4西班牙4波兰3葡萄牙3新西兰3阿根廷2智利2另有 12 个国家/地区
CT.gov 报告命中 48 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07280650Feasibility and Acceptability of an LLM-based Chatbot for Family Caregivers: Evaluation Study美国
- 招募中NCT07609108Pridopidine Phase 3 Study in Huntington's Disease比利时、加拿大、捷克、法国、德国、意大利、荷兰、波兰 等 12 国
- 招募中NCT07536061A First-in-human Study of the Effects of SRP-1005 in Participants With Huntington's Disease新西兰
- 招募中NCT07451613Safety and Tolerability Study of Human Neural Stem Cells for Huntington's Disease美国
- 尚未开始招募NCT07409597Autobiographical Memory, Future Thought, and Eye Movements in Huntington's Disease法国
- 招募中NCT06634628iMagemHTT-009- FIH Evaluation of Novel Mutant Huntingtin PET Radioligand [11C]CHDI-00491009比利时
- 尚未开始招募NCT07315984Multi-Modal Digital Monitoring of Disease Symptoms Huntington's Disease美国
- 招募中NCT07378644Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants With Huntington's Disease阿根廷、巴西、加拿大、智利、Georgia
- 招募中NCT07253038Evaluation of Three Tests to Assess Social Cognition in Huntington Disease瑞典
- 招募中NCT06828471Social Cognition Training in Individuals With Huntington's Disease美国
- 招募中NCT06843252Home-based TDCS (Transcranial Direct Current Stimulation) for Cognitive and Behavioral Symptoms in Huntington's Disease美国
- 尚未开始招募NCT06976983Transcranial Static Magnetic Stimulation (tSMS) in Huntington's Disease (HD)
- 招募中NCT06774443Hinting Task for Huntington's Disease荷兰
- 招募中NCT06807892Comparison of Two Cognitive-Motor Rehabilitation Approaches Via Exergames: a Study of Cognitive, Motor and Behavioral Functions in Huntington's Disease Patients法国
- 招募中NCT06546488Cognitive Assessment Tools for Huntington's Disease.美国
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）