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常染色体显性遗传小脑型共济失调

Autosomal dominant cerebellar ataxia

ORPHA:99疾病组中国目录 第1批 · 111

定义 英文原文（暂无中文）

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.

别名

常染色体显性遗传脊髓小脑共济失调

基本事实

遗传方式
常染色体显性
发病年龄
各年龄段
患病率
1-9 / 100 000

相关基因 48来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
AFG3L2AFG3 like matrix AAA peptidase subunit 2ORPHA:101109
ATN1atrophin 1ORPHA:101
ATP1A3ATPase Na+/K+ transporting subunit alpha 3ORPHA:1171
ATXN1ataxin 1ORPHA:98755
ATXN10ataxin 10ORPHA:98761
ATXN2ataxin 2ORPHA:98756
ATXN3ataxin 3ORPHA:276238
ATXN7ataxin 7ORPHA:94147
ATXN8ataxin 8ORPHA:98760
ATXN8OSATXN8 opposite strand lncRNAORPHA:98760
BEAN1brain expressed associated with NEDD4 1ORPHA:217012
CACNA1Acalcium voltage-gated channel subunit alpha1 AORPHA:98758
CACNA1Gcalcium voltage-gated channel subunit alpha1 GORPHA:458803
CAMTA1calmodulin binding transcription activator 1ORPHA:314647
CCDC88Ccoiled-coil and HOOK domain protein 88CORPHA:423275
DAB1DAB adaptor protein 1ORPHA:363710
DNMT1DNA methyltransferase 1ORPHA:314404
EEF2eukaryotic translation elongation factor 2ORPHA:101112
ELOVL4ELOVL fatty acid elongase 4ORPHA:1955
FAT2FAT atypical cadherin 2ORPHA:589527
FGF14fibroblast growth factor 14ORPHA:98764
GRM1glutamate metabotropic receptor 1ORPHA:631095
IFRD1interferon related developmental regulator 1ORPHA:98771
ITPR1inositol 1,4,5-trisphosphate receptor type 1ORPHA:208513
KCNC3potassium voltage-gated channel subfamily C member 3ORPHA:98768
KCND3potassium voltage-gated channel subfamily D member 3ORPHA:98772
MMEmembrane metalloendopeptidaseORPHA:497764
NOP56NOP56 ribonucleoproteinORPHA:276198
PDYNprodynorphinORPHA:101108
PLD3phospholipase D family member 3ORPHA:589522
PNPT1polyribonucleotide nucleotidyltransferase 1ORPHA:101111
POU4F1POU class 4 homeobox 1ORPHA:314647
PPP2R2Bprotein phosphatase 2 regulatory subunit BbetaORPHA:98762
PRKCGprotein kinase C gammaORPHA:98763
PUM1pumilio RNA binding family member 1ORPHA:642747
SAMD9Lsterile alpha motif domain containing 9 likeORPHA:631106
SCA20spinocerebellar ataxia 20ORPHA:101110
SCA25spinocerebellar ataxia 25ORPHA:101111
SCA30spinocerebellar ataxia 30ORPHA:211017
SCA32spinocerebellar ataxia 32ORPHA:276183
SCA37spinocerebellar ataxia 37ORPHA:363710
SPTBN2spectrin beta, non-erythrocytic 2ORPHA:98766
STUB1STIP1 homology and U-box containing protein 1ORPHA:631103
TBPTATA-box binding proteinORPHA:98759
TGM6transglutaminase 6ORPHA:276193
TMEM240transmembrane protein 240ORPHA:98773
TRPC3transient receptor potential cation channel subfamily C member 3ORPHA:458798
TTBK2tau tubulin kinase 2ORPHA:98767

近两年的全球研究 124L2

2024/10 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。

  • 2026-09开放获取
    Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner)
    Cerebellum (London, England) · DOI · Europe PMC
  • 2026-09综述
    Autosomal recessive cerebellar ataxia: What have we learnt in the last 30 years?
    Revue neurologique · DOI · Europe PMC
  • 2026-09病例报告开放获取
    A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report
    Medicine · DOI · Europe PMC
  • 2026-09开放获取
    Disease-Associated Mutations Impact DNA Methyltransferase 1 Function through Dynamic Allosteric Effects and Solvent Exposure
    Journal of chemical theory and computation · DOI · Europe PMC
  • 2026-08综述开放获取
    Advances in FGF/FGFR Signaling: Implications for Disease and Therapy
    MedComm · DOI · Europe PMC
  • 2026-08综述开放获取
    Rehabilitation strategies for atypical parkinsonian syndromes: A scoping review of progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome, and dementia with Lewy bodies
    Journal of Parkinson's disease · DOI · Europe PMC
  • 2026-08
    Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32
    Journal of human genetics · DOI · Europe PMC
  • 2026-08开放获取
    Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients
    EBioMedicine · DOI · Europe PMC
  • 2026-08开放获取
    A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a
    Human molecular genetics · DOI · Europe PMC
  • 2026-07
    Transcriptional regulation of disease-relevant microglial activation programs
    Neuron · 被引 2 · DOI · Europe PMC
  • 2026-07综述开放获取
    DNMT1 as an environmental sensor: epigenetic pathways linking environmental exposures, sex hormone signaling, and vulnerability to neurodevelopmental and neurodegenerative diseases
    Frontiers in neurology · DOI · Europe PMC
  • 2026-07开放获取
    Ataxia patient care pathway and associated healthcare costs in Italy: a cross-sectional survey
    Neurological sciences : official journal of the Italian Neurological S · DOI · Europe PMC
  • 2026-07开放获取
    Integrating genomic structural equation modeling and experimental validation to unravel the genetic basis of male genital lichen sclerosus
    Frontiers in immunology · DOI · Europe PMC
  • 2026-07综述开放获取
    Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features
    Neuro-degenerative diseases · DOI · Europe PMC
  • 2026-06
    Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)
    Stem cell research · DOI · Europe PMC
  • 2026-06开放获取
    Single-cell profiling of DNA methylation in autism spectrum disorder prefrontal cortex reveals distinct regulatory and aging signatures
    Cell genomics · 被引 1 · DOI · Europe PMC
  • 2026-06开放获取
    Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder
    The Journal of clinical investigation · DOI · Europe PMC
  • 2026-06
    Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency
    Molecular genetics and metabolism · DOI · Europe PMC
  • 2026-06综述开放获取
    The Use of Prisms in the Management of Nystagmus: A Case Series and Literature Review
    Investigative ophthalmology & visual science · DOI · Europe PMC
  • 2026-05开放获取
    GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia
    Clinical genetics · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

尚未获批的在研药物（19 项）

这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。

  • ceftriaxone欧盟2015-01-15
    Treatment of spinocerebellar ataxia
    官方记录
  • trehalose欧盟2015-06-19
    Treatment of spinocerebellar ataxia
    官方记录
  • trans-resveratrol欧盟2017-01-12
    Treatment of spinocerebellar ataxia
    官方记录
  • acetylleucine欧盟2018-11-22
    Treatment of spinocerebellar ataxia
    官方记录
  • 2'-O-methyl phosphorothioate RNA oligonucleotide, 5'-m5CUGm5CUGm5CUGm5欧盟2021-02-19
    Treatment of spinocerebellar ataxia
    官方记录
  • troriluzole hydrochloride欧盟2021-12-10
    Treatment of spinocerebellar ataxia
    官方记录
  • rovatirelin欧盟2022-11-11
    Treatment of spinocerebellar ataxia
    官方记录
  • befiradol fumarate欧盟2024-07-25
    Treatment of spinocerebellar ataxia
    官方记录
  • trehalose美国2014-11-17
    该药获批用于脊髓小脑共济失调3型——本病种下的一个亚型
    Treatment of spinal cerebellar ataxia type 3 (also known as SCA3 or Machado Joseph disease)
    官方记录
  • stemchymal美国2015-12-16
    Treatment of polyqlutamine spinocerebellar ataxia
    官方记录
  • 2-amino-N-({methyl-[(6-trifluoromethoxy-benzothiazol-2-ylcarbamoyl)-me美国2016-05-18
    Treatment of spinocerebellar ataxia.
    官方记录
  • N-acetyl-DL-leucine美国2018-06-06
    Treatment of Spinocerebellar Ataxia (SCA)
    官方记录
  • N-(4,4-difluorocyclohexyl)-2-(3-methyl-1H-pyrazol-1-yl)-6-morpholinopy美国2019-05-22
    Treatment of spinocerebellar ataxia
    官方记录
  • (1E,6E)-1,7-Bis(3,4-dimethoxyphenyl)-4-cyclobutylmethyl-1,6-heptadiene美国2019-09-24
    Treatment of spinocerebellar ataxia
    官方记录
  • 2'-O-methylphosphorothioate RNAoligonucleotide, 5'- m5CUGm5CUGm5CUGm5C美国2021-06-22
    Treatment of spinocerebellar ataxia
    官方记录
  • Rovatirelin美国2022-08-15
    Treatment of spinocerebellar ataxia
    官方记录
  • 4-aminopyridine (4-AP)美国2024-07-26
    treatment of spinocerebellar ataxia
    官方记录
  • a single stranded 2-methoxyethyl RNA nucleotide with a full-length pho美国2025-05-09
    treatment of spinocerebellar ataxia (SCA)
    官方记录
  • befiradol美国2025-05-15
    treatment of spinocerebellar ataxia
    官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 11L2

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NCT07092358
    Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
    观察性 · 2025/06/01Second Affiliated Hospital, Zhejiang University, School of Medicine
    中国研究中心 2 个：Hangzhou、Shanghai
  • 招募中NCT07371663
    An Phase Ib/II Clinical Trial of TCC1727 Combination Therapy in Advanced Solid Tumors
    I 期、II 期 · 干预性 · 2025/12/03Beijing Tide Pharmaceutical Co., Ltd
    中国研究中心 3 个：Beijing、Hangzhou、Zhengzhou
  • 尚未开始招募NCT07743866
    Optimizing Parameters of Transcranial Temporal Interference Stimulation for Spinocerebellar Ataxia Type 3
    不适用 · 干预性 · 2026/08/07First Affiliated Hospital of Fujian Medical University
    中国研究中心 1 个：Fuzhou
其他状态的试验（8 项）
  • 状态未知NCT01360164
    Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia
    I 期、II 期 · 干预性 · 2010/01Shenzhen Beike Bio-Technology Co., Ltd.
    中国研究中心 1 个：Nanjing
  • 状态未知NCT01489267
    A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation
    II 期 · 干预性 · 2011/12General Hospital of Chinese Armed Police Forces
    中国研究中心 1 个：Beijing
  • 已完成NCT05502432
    Repetitive Transcranial Magnetic Stimulation in SCA3 Patients
    不适用 · 干预性 · 2018/12/17Ning Wang, MD., PhD.
    中国研究中心 1 个：Fuzhou
  • 进行中·不再招募NCT03701399
    Troriluzole in Adult Participants With Spinocerebellar Ataxia
    III 期 · 干预性 · 2019/03/08Biohaven Pharmaceuticals, Inc.
    中国研究中心 2 个：Changsha、Chengdu
  • 状态未知NCT05160870
    Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia
    观察性 · 2021/06/30Second Affiliated Hospital, Zhejiang University, School of Medicine
    中国研究中心 1 个：Hangzhou
  • 状态未知NCT05160883
    Neuroimaging Changes in Hereditary Ataxia
    观察性 · 2021/06/30Second Affiliated Hospital, Zhejiang University, School of Medicine
    中国研究中心 1 个：Hangzhou
  • 已完成NCT05557786
    Treatment of Transcranial Alternating Current Stimulation（tACS）on Cerebellar Ataxia
    不适用 · 干预性 · 2022/08/07First Affiliated Hospital of Fujian Medical University
    中国研究中心 1 个：Fuzhou
  • 进行中·不再招募NCT06904716
    The Study of Transcranial Magnetic Stimulation in the Regulation of Spinocerebellar Ataxia
    不适用 · 干预性 · 2023/05/01First Affiliated Hospital of Chongqing Medical University
    中国研究中心 1 个：Chongqing

中国境外的在招试验 57L2

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22法国14意大利11德国10西班牙8奥地利7英国7荷兰6比利时5加拿大5捷克5澳大利亚5巴西4波兰3另有 12 个国家/地区

CT.gov 报告命中 57 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT03378414
    Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia
    II 期 · 干预性 · 2026/12/31Sclnow Biotechnology Co., Ltd.
  • 招募中NCT06628687
    A Study to Learn How BIIB141 (Omaveloxolone) Affects the Health of Participants With Friedrich's Ataxia Who Took it During Pregnancy and/or During Breastfeeding and About the Health of Their Babies
    观察性 · 2026/10/26Biogen
    美国
  • 尚未开始招募NCT07752095
    Cerebellar DBS in SCA1 and SCA3 Study
    不适用 · 干预性 · 2026/10Gordon H. Baltuch
    美国
  • 尚未开始招募NCT07709728
    Biomarkers for Babies and Young Children With Ataxia Telangiectasia
    观察性 · 2026/09/01University of Nottingham
  • 招募中NCT07221292
    Pivotal Study of N-acetyl-L-leucine for CACNA1A
    III 期 · 干预性 · 2026/08/17IntraBio Inc
    奥地利、德国、希腊、意大利、瑞士、英国、美国
  • 尚未开始招募NCT07681713
    Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA)
    III 期 · 干预性 · 2026/08/15PTC Therapeutics
    比利时、巴西、加拿大、法国、西班牙、美国
  • 招募中NCT07778836
    A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia
    III 期 · 干预性 · 2026/08/05Larimar Therapeutics, Inc.
    美国
  • 招募中NCT07215416
    Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
    I 期、II 期 · 干预性 · 2026/08Timothy Yu
    美国
  • 尚未开始招募NCT07731971
    Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
    观察性 · 2026/07/30University of Exeter
    英国
  • 招募中NCT07721025
    Study of LX2006 Gene Therapy in Friedreich Ataxia Cardiomyopathy
    II 期 · 干预性 · 2026/06/25Lexeo Therapeutics
    美国
  • 招募中NCT07325487
    Interposed Nucleus aDBS for Ataxia
    不适用 · 干预性 · 2026/06/02University of Florida
    美国
  • 尚未开始招募NCT07467733
    Evaluation of the Safety and Preliminary Efficacy of Neuroinduced Mesenchymal Stem Cells and Exosome Therapy in Patients With Spinocerebellar Palsy
    I 期、II 期 · 干预性 · 2026/06/01Biocells Medical
    波兰
  • 招募中NCT07288437
    Deep Brain Stimulation for Spinocerebellar Ataxia
    不适用 · 干预性 · 2026/04/27University of California, San Francisco
    美国
  • 尚未开始招募NCT07444333
    Cardiac Output and Fatigue in Friedreich's Ataxia
    不适用 · 干预性 · 2026/04/01Scott Barbuto
  • 尚未开始招募NCT07200505
    Telerehabilitation for Core Stability and Strength in Hereditary Ataxia
    不适用 · 干预性 · 2026/02/09Universitat de Lleida
    西班牙

外部标识与链接

OrphanetMONDO:0020380GARD:4346ICD-11 8A03.1YClinicalTrials.gov 检索

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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）