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2000
Volume 24, Issue 1
  • ISSN: 1570-159X
  • E-ISSN: 1875-6190

Abstract

Background

Polyglutamine (polyQ) spinocerebellar ataxias (SCA) are a group of autosomal dominant neurodegenerative disorders for which no effective treatments currently exist. These conditions impose a significant burden on patients, their families, and society. Consequently, the treatment of these disorders has attracted significant global interest.

Objective

We conducted this bibliometric analysis to identify the key research hotspots and predict the future research directions of this field.

Methods

Studies relating to the treatment of polyQ SCA published from 1999 to 2024 were retrieved from the Web of Science Core Collection database. Relevant papers were selected using predefined inclusion and exclusion criteria. HistCite, VOSviewer, CiteSpace, and alluvial generator were used in the bibliometric analysis.

Results

Overall, 935 papers were included. The number of publications in this field showed a trend toward a fluctuating increase. The United States and the University of Coimbra were the leading countries and institutions, respectively, in terms of publication number. The two most productive and highly cited authors were Luis Pereira de Almeida and Patricia Maciel. The journals , , and were considered the most influential based on the number of publications and citations. Furthermore, “new SCA types”, “Huntington’s disease”, “clinical trial”, “gene therapy”, “disease models,” and “Aggregation clearance therapy” emerged as current hotspots in this field, as revealed by the reference and keyword analyses.

Conclusion

This study presents a systematic bibliometric analysis of research on the polyQ SCA treatment, which we hope will assist researchers in identifying the key topics and future research directions in this field.

© 2026 Bentham Science Publishers
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References

  1. PaulsonH.L. ShakkottaiV.G. ClarkH.B. OrrH.T. Polyglutamine spinocerebellar ataxias — From genes to potential treatments.Nat. Rev. Neurosci.2017181061362610.1038/nrn.2017.92 28855740
     [Google Scholar]
  2. AshizawaT. ÖzG. PaulsonH.L. Spinocerebellar ataxias: Prospects and challenges for therapy development.Nat. Rev. Neurol.2018141059060510.1038/s41582‑018‑0051‑6 30131520
     [Google Scholar]
  3. McLoughlinH.S. MooreL.R. PaulsonH.L. Pathogenesis of SCA3 and implications for other polyglutamine diseases.Neurobiol. Dis.202013410463510.1016/j.nbd.2019.104635 31669734
     [Google Scholar]
  4. TanD. WeiC. ChenZ. HuangY. DengJ. LiJ. LiuY. BaoX. XuJ. HuZ. WangS. FanY. JiangY. WuY. WuY. WangS. LiuP. ZhangY. YangZ. JiangY. ZhangH. HongD. ZhongN. JiangH. XiongH. CAG repeat expansion in THAP11 is associated with a novel spinocerebellar ataxia.Mov. Disord.20233871282129310.1002/mds.29412 37148549
     [Google Scholar]
  5. DurrA. Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond.Lancet Neurol.20109988589410.1016/S1474‑4422(10)70183‑6 20723845
     [Google Scholar]
  6. MatosC.A. de AlmeidaL.P. NóbregaC. Machado–Joseph disease/spinocerebellar ataxia type 3: Lessons from disease pathogenesis and clues into therapy.J. Neurochem.2019148182810.1111/jnc.14541 29959858
     [Google Scholar]
  7. FriedrichJ. KordasiewiczH.B. O’CallaghanB. HandlerH.P. WagenerC. DuvickL. SwayzeE.E. RainwaterO. HofstraB. BenneyworthM. Nichols-MeadeT. YangP. ChenZ. OrtizJ.P. ClarkH.B. ÖzG. LarsonS. ZoghbiH.Y. HenzlerC. OrrH.T. Antisense oligonucleotide–mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.JCI Insight2018321e12319310.1172/jci.insight.123193 30385727
     [Google Scholar]
  8. McLoughlinH.S. GundryK. RainwaterO. SchusterK.H. WellikI.G. ZalonA.J. BenneyworthM.A. EberlyL.E. ÖzG. Antisense oligonucleotide silencing reverses abnormal neurochemistry in spinocerebellar ataxia 3 mice.Ann. Neurol.202394465867110.1002/ana.26713 37243335
     [Google Scholar]
  9. McLoughlinH.S. MooreL.R. ChopraR. KomloR. McKenzieM. BlumensteinK.G. ZhaoH. KordasiewiczH.B. ShakkottaiV.G. PaulsonH.L. Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice.Ann. Neurol.2018841647710.1002/ana.25264 29908063
     [Google Scholar]
  10. NiuC. PrakashT.P. KimA. QuachJ.L. HurynL.A. YangY. LopezE. JazayeriA. HungG. SopherB.L. BrooksB.P. SwayzeE.E. BennettC.F. La SpadaA.R. Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.Sci. Transl. Med.201810465eaap867710.1126/scitranslmed.aap8677 30381411
     [Google Scholar]
  11. O’CallaghanB. HofstraB. HandlerH.P. KordasiewiczH.B. ColeT. DuvickL. FriedrichJ. RainwaterO. YangP. BenneyworthM. Nichols-MeadeT. HealW. Ter HaarR. HenzlerC. OrrH.T. Antisense oligonucleotide therapeutic approach for suppression of ataxin-1 expression: A safety assessment.Mol. Ther. Nucleic Acids2020211006101610.1016/j.omtn.2020.07.030 32818920
     [Google Scholar]
  12. SchusterK.H. ZalonA.J. DiFrancoD.M. PutkaA.F. StecN.R. JarrahS.I. NaeemA. HaqueZ. ZhangH. GuanY. McLoughlinH.S. ASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice.Mol. Ther.20243251359137210.1016/j.ymthe.2024.02.033 38429929
     [Google Scholar]
  13. AlvesS. Nascimento-FerreiraI. AureganG. HassigR. DufourN. BrouilletE. Pedroso de LimaM.C. HantrayeP. Pereira de AlmeidaL. DéglonN. Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.PLoS One2008310e334110.1371/journal.pone.0003341 18841197
     [Google Scholar]
  14. XiaH. MaoQ. EliasonS.L. HarperS.Q. MartinsI.H. OrrH.T. PaulsonH.L. YangL. KotinR.M. DavidsonB.L. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.Nat. Med.200410881682010.1038/nm1076 15235598
     [Google Scholar]
  15. MiyazakiY. DuX. MuramatsuS. GomezC.M. An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron.Sci. Transl. Med.20168347347ra9410.1126/scitranslmed.aaf5660 27412786
     [Google Scholar]
  16. Rodríguez-LebrónE. CostaM. Luna-CancalonK. PeronT.M. FischerS. BoudreauR.L. DavidsonB.L. PaulsonH.L. Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice.Mol. Ther.201321101909191810.1038/mt.2013.152 23820820
     [Google Scholar]
  17. HeL. WangS. PengL. ZhaoH. LiS. HanX. HabimanaJ.D. ChenZ. WangC. PengY. PengH. XieY. LeiL. DengQ. WanL. WanN. YuanH. GongY. ZouG. LiZ. TangB. JiangH. CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells.Transl. Psychiatry202111147910.1038/s41398‑021‑01605‑2 34535635
     [Google Scholar]
  18. PappadàM. BonuccelliO. BurattoM. FontanaR. SicurellaM. CaproniA. FuselliS. BenazzoA. BertorelliR. De SanctisV. CavallerioP. SimioniV. TugnoliV. SalvatoriF. MarconiP. Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells.Sci. Rep.20221212028510.1038/s41598‑022‑24299‑y 36434031
     [Google Scholar]
  19. SimpsonB.P. YrigollenC.M. IzdaA. DavidsonB.L. Targeted long-read sequencing captures CRISPR editing and AAV integration outcomes in brain.Mol. Ther.202331376077310.1016/j.ymthe.2023.01.004 36617193
     [Google Scholar]
  20. AyalaI.N. AzizS. ArgudoJ.M. YepezM. CamachoM. OjedaD. AguirreA.S. OñaS. AndradeA.F. VasudharA. MoncayoJ.A. HassenG. OrtizJ.F. TamboW. Use of riluzole for the treatment of hereditary ataxias: A systematic review.Brain Sci.2022128104010.3390/brainsci12081040 36009103
     [Google Scholar]
  21. CoarelliG. HeinzmannA. EwenczykC. FischerC. ChupinM. MoninM.L. HurmicH. CalvasF. CalvasP. GoizetC. ThoboisS. AnheimM. NguyenK. DevosD. VernyC. RiciglianoV.A.G. ManginJ.F. BriceA. Tezenas du MontcelS. DurrA. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): A multicentre, randomised, double-blind, placebo-controlled trial.Lancet Neurol.202221322523310.1016/S1474‑4422(21)00457‑9 35063116
     [Google Scholar]
  22. Velázquez-PérezL. Rodríguez-LabradaR. Riluzole and spinocerebellar ataxia type 2: The ATRIL trial.Lancet Neurol.202221320420510.1016/S1474‑4422(22)00028‑X 35063118
     [Google Scholar]
  23. ZesiewiczT.A. WilmotG. KuoS.H. PerlmanS. GreensteinP.E. YingS.H. AshizawaT. SubramonyS.H. SchmahmannJ.D. FigueroaK.P. MizusawaH. SchölsL. ShawJ.D. DubinskyR.M. ArmstrongM.J. GronsethG.S. SullivanK.L. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the guideline development, dissemination, and implementation subcommittee of the American academy of neurology.Neurology2018901046447110.1212/WNL.0000000000005055 29440566
     [Google Scholar]
  24. EstevesS. Duarte-SilvaS. NaiaL. Neves-CarvalhoA. Teixeira-CastroA. RegoA.C. Silva-FernandesA. MacielP. Limited effect of chronic valproic acid treatment in a mouse model of machado-joseph disease.PLoS One20151010e014161010.1371/journal.pone.0141610 26505994
     [Google Scholar]
  25. LeiL.F. YangG.P. WangJ.L. ChuangD.M. SongW.H. TangB.S. JiangH. Safety and efficacy of valproic acid treatment in SCA3/MJD patients.Parkinsonism Relat. Disord.201626556110.1016/j.parkreldis.2016.03.005 26997655
     [Google Scholar]
  26. WatchonM. LuuL. RobinsonK.J. YuanK.C. De LucaA. SuddullH.J. TymM.C. GuilleminG.J. ColeN.J. NicholsonG.A. ChungR.S. LeeA. LairdA.S. Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo.Mol. Brain202114112810.1186/s13041‑021‑00839‑x 34416891
     [Google Scholar]
  27. ConnollyB.S. PrashanthL.K. ShahB.B. MarrasC. LangA.E. A randomized trial of varenicline (chantix) for the treatment of spinocerebellar ataxia type 3.Neurology20127922221810.1212/WNL.0b013e318278a059 23183282
     [Google Scholar]
  28. van de WarrenburgB.P.C. van GaalenJ. BoeschS. BurgunderJ.M. DürrA. GiuntiP. KlockgetherT. MariottiC. PandolfoM. RiessO. EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.Eur. J. Neurol.201421455256210.1111/ene.12341 24418350
     [Google Scholar]
  29. SaccàF. PuorroG. BrunettiA. CapassoG. CervoA. CocozzaS. de LevaM. MarsiliA. PaneC. QuarantelliM. RussoC.V. TrepiccioneF. De MicheleG. FillaA. MorraV.B. A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2.J. Neurol.2015262114915310.1007/s00415‑014‑7551‑0 25346067
     [Google Scholar]
  30. SauteJ.A.M. de CastilhosR.M. MonteT.L. Schumacher-SchuhA.F. DonisK.C. D’ÁvilaR. SouzaG.N. RussoA.D. FurtadoG.V. GhenoT.C. de SouzaD.O.G. PortelaL.V.C. Saraiva-PereiraM.L. CameyS.A. TormanV.B.L. de Mello RiederC.R. JardimL.B. A randomized, phase 2 clinical trial of lithium carbonate in Machado‐Joseph disease.Mov. Disord.201429456857310.1002/mds.25803 24399647
     [Google Scholar]
  31. WataseK. GatchelJ.R. SunY. EmamianE. AtkinsonR. RichmanR. MizusawaH. OrrH.T. ShawC. ZoghbiH.Y. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.PLoS Med.200745e18210.1371/journal.pmed.0040182 17535104
     [Google Scholar]
  32. Rodríguez-DíazJ.C. Velázquez-PérezL. RodríguezL.R. AguileraR.R. LaffitaP.D. CanalesO.N. MedranoM.J. EstupiñánR.A. OsorioB.M. GóngoraM.M. ReynaldoC.L. GonzálezZ.Y. AlmaguerG.D. Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24‐week, rater‐blinded, randomized, controlled trial.Mov. Disord.20183391481148710.1002/mds.27437 30132999
     [Google Scholar]
  33. Velázquez-PérezL. Rodríguez-DiazJ.C. Rodríguez-LabradaR. Medrano-MonteroJ. Aguilera CruzA.B. Reynaldo-CejasL. Góngora-MarreroM. Estupiñán-RodríguezA. Vázquez-MojenaY. Torres-VegaR. Neurorehabilitation improves the motor features in prodromal SCA2: A randomized, controlled trial.Mov. Disord.20193471060106810.1002/mds.27676 30958572
     [Google Scholar]
  34. CiricugnoA. OldratiV. CattaneoZ. LeggioM. UrgesiC. OlivitoG. Cerebellar neurostimulation for boosting social and affective functions: Implications for the rehabilitation of hereditary ataxia patients.Cerebellum20242341651167710.1007/s12311‑023‑01652‑z 38270782
     [Google Scholar]
  35. YapK.H. AzminS. CheH.J. AhmadN. van de WarrenburgB. MohamedI.N. Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review.J. Neurol.202226952315233710.1007/s00415‑021‑10874‑2 34743220
     [Google Scholar]
  36. HuZ. TaoX. HuangZ. XieK. ZhuS. WengX. LinD. ZhangY. WangL. Efficacy of high-frequency repetitive transcranial magnetic stimulation in a family with spinocerebellar ataxia type 3: A case report.Heliyon202395e1619010.1016/j.heliyon.2023.e16190 37215811
     [Google Scholar]
  37. ShiY. ZouG. ChenZ. WanL. PengL. PengH. ShenL. XiaK. QiuR. TangB. JiangH. Efficacy of cerebellar transcranial magnetic stimulation in spinocerebellar ataxia type 3: A randomized, single-blinded, controlled trial.J. Neurol.2023270115372537910.1007/s00415‑023‑11848‑2 37433893
     [Google Scholar]
  38. LiuY. MaY. ZhangJ. YanX. OuyangY. Effects of non-invasive brain stimulation on hereditary ataxia: A systematic review and meta-analysis.Cerebellum20232341614162510.1007/s12311‑023‑01638‑x 38019418
     [Google Scholar]
  39. Grobe-EinslerM. BorkF. FaikusA. HurlemannR. KautO. Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias – A randomized clinical trial.CNS Neurosci. Ther.2024306e1479710.1111/cns.14797 38887169
     [Google Scholar]
  40. CuiZ.T. MaoZ.T. YangR. LiJ.J. JiaS.S. ZhaoJ.L. ZhongF.T. YuP. DongM. Spinocerebellar ataxias: From pathogenesis to recent therapeutic advances.Front. Neurosci.202418142244210.3389/fnins.2024.1422442 38894941
     [Google Scholar]
  41. DéglonN. Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3.Rev. Neurol.2024180537838210.1016/j.neurol.2024.03.003 38580500
     [Google Scholar]
  42. Niewiadomska-CimickaA. FievetL. SurdykaM. JesionE. KeimeC. SingerE. EisenmannA. Kalinowska-PoskaZ. NguyenH.H.P. FiszerA. FigielM. TrottierY. AAV-mediated CAG-targeting selectively reduces polyglutamine-expanded protein and attenuates disease phenotypes in a spinocerebellar ataxia mouse model.Int. J. Mol. Sci.2024258435410.3390/ijms25084354 38673939
     [Google Scholar]
  43. NinkovA. FrankJ.R. MaggioL.A. Bibliometrics: Methods for studying academic publishing.Perspect. Med. Educ.202111317317610.1007/S40037‑021‑00695‑4 34914027
     [Google Scholar]
  44. JiangS. PanX. LiH. SuY. Global trends and developments in mindfulness interventions for diabetes: A bibliometric study.Diabetol. Metab. Syndr.20241614310.1186/s13098‑024‑01288‑x 38360701
     [Google Scholar]
  45. YuanK. ZhangX. WuB. ZengR. HuR. WangC. Research trends between diabetes mellitus and bariatric surgery researches: Bibliometric analysis and visualization from 1998 to 2023.Obes. Rev.2024256e1373010.1111/obr.13730 38424660
     [Google Scholar]
  46. ZhaoM. WangK. LinR. MuF. CuiJ. TaoX. WengY. WangJ. Influence of glutamine metabolism on diabetes development: A scientometric review.Heliyon2024104e2525810.1016/j.heliyon.2024.e25258 38375272
     [Google Scholar]
  47. ZengN. SunJ.X. LiuC.Q. XuJ.Z. AnY. XuM.Y. ZhangS.H. ZhongX.Y. MaS.Y. HeH.D. WangS.G. XiaQ.D. Knowledge mapping of application of image-guided surgery in prostate cancer: A bibliometric analysis (2013–2023).Int. J. Surg.202411052992300710.1097/JS9.0000000000001232 38445538
     [Google Scholar]
  48. AmmirabileA. MastroleoF. MarvasoG. AlterioD. FranzeseC. ScorsettiM. FrancoP. GiannittoC. Jereczek-FossaB.A. Mapping the research landscape of HPV-positive oropharyngeal cancer: A bibliometric analysis.Crit. Rev. Oncol. Hematol.202419610431810.1016/j.critrevonc.2024.104318 38431241
     [Google Scholar]
  49. FuY. GongC. ZhuC. ZhongW. GuoJ. ChenB. Research trends and hotspots of neuropathic pain in neurodegenerative diseases: A bibliometric analysis.Front. Immunol.202314118241110.3389/fimmu.2023.1182411 37503342
     [Google Scholar]
  50. WangW. LiT. WangZ. YinY. ZhangS. WangC. HuX. LuS. Bibliometric analysis of research on neurodegenerative diseases and single-cell RNA sequencing: Opportunities and challenges.iScience2023261010783310.1016/j.isci.2023.107833 37736042
     [Google Scholar]
  51. ZhangT. YangR. PanJ. HuangS. Parkinson’s disease related depression and anxiety: A 22-year bibliometric analysis (2000-2022).Neuropsychiatr. Dis. Treat.2023191477148910.2147/NDT.S403002 37404573
     [Google Scholar]
  52. TaoZ. WangF. JiangZ. WangC. JiangC. YeS. YangW. WangM. A bibliometric analysis of hepatolenticular degeneration research in traditional Chinese medicine using CiteSpace and VOSviewer: A study protocol for systematic review.Medicine202410349e4078110.1097/MD.0000000000040781 39654180
     [Google Scholar]
  53. LuY. HuY. WangS. PanS. AnK. WangT. HeY. TianC. LeiJ. Hereditary hearing loss: A systematic review of potential treatments and interventions.Am. J. Audiol.202332497298910.1044/2023_AJA‑23‑00069 37889166
     [Google Scholar]
  54. ChenC. CiteSpace II: Detecting and visualizing emerging trends and transient patterns in scientific literature.J. Am. Soc. Inf. Sci. Technol.200657335937710.1002/asi.20317
     [Google Scholar]
  55. GarfieldE. ParisS.W. StockW.G. HistCite™: A software tool for informetric analysis of citation linkage.NFD Inf Wiss Praxis2006578391400
     [Google Scholar]
  56. van EckN.J. WaltmanL. Software survey: VOSviewer, a computer program for bibliometric mapping.Scientometrics201084252353810.1007/s11192‑009‑0146‑3 20585380
     [Google Scholar]
  57. AriaM. CuccurulloC. Bibliometrix: An R-tool for comprehensive science mapping analysis.J. Informetrics201711495997510.1016/j.joi.2017.08.007
     [Google Scholar]
  58. KlockgetherT. MariottiC. PaulsonH.L. Spinocerebellar ataxia.Nat. Rev. Dis. Primers2019512410.1038/s41572‑019‑0074‑3 30975995
     [Google Scholar]
  59. MooreL.R. RajpalG. DillinghamI.T. QutobM. BlumensteinK.G. GattisD. HungG. KordasiewiczH.B. PaulsonH.L. McLoughlinH.S. Evaluation of antisense oligonucleotides targeting ATXN3 in SCA3 mouse models.Mol. Ther. Nucleic Acids2017720021010.1016/j.omtn.2017.04.005 28624196
     [Google Scholar]
  60. DunahA.W. JeongH. GriffinA. KimY.M. StandaertD.G. HerschS.M. MouradianM.M. YoungA.B. TaneseN. KraincD. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington’s disease.Science200229655762238224310.1126/science.1072613 11988536
     [Google Scholar]
  61. BowmanA.B. LamY.C. Jafar-NejadP. ChenH.K. RichmanR. SamacoR.C. FryerJ.D. KahleJ.J. OrrH.T. ZoghbiH.Y. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.Nat. Genet.200739337337910.1038/ng1977 17322884
     [Google Scholar]
  62. HuJ. MatsuiM. GagnonK.T. SchwartzJ.C. GabilletS. ArarK. WuJ. BezprozvannyI. CoreyD.R. Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs.Nat. Biotechnol.200927547848410.1038/nbt.1539 19412185
     [Google Scholar]
  63. ChouA.H. ChenS.Y. YehT.H. WengY.H. WangH.L. HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3.Neurobiol. Dis.201141248148810.1016/j.nbd.2010.10.019 21047555
     [Google Scholar]
  64. Den DunnenW.F.A. Trinucleotide repeat disorders.Handb. Clin. Neurol.201814538339110.1016/B978‑0‑12‑802395‑2.00027‑4 28987184
     [Google Scholar]
  65. LiebermanA.P. ShakkottaiV.G. AlbinR.L. Polyglutamine repeats in neurodegenerative diseases.Annu. Rev. Pathol.201914112710.1146/annurev‑pathmechdis‑012418‑012857 30089230
     [Google Scholar]
  66. BuijsenR.A.M. ToonenL.J.A. GardinerS.L. van Roon-MomW.M.C. Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias.Neurotherapeutics201916226328610.1007/s13311‑018‑00696‑y 30607747
     [Google Scholar]
  67. Soto-PiñaA.E. Pulido-AlvaradoC.C. DulskiJ. WszolekZ.K. MagañaJ.J. Specific biomarkers in spinocerebellar ataxia type 3: A systematic review of their potential uses in disease staging and treatment assessment.Int. J. Mol. Sci.20242515807410.3390/ijms25158074 39125644
     [Google Scholar]
  68. MarceloA. AfonsoI.T. Afonso-ReisR. BritoD.V.C. CostaR.G. RosaA. Alves-CruzeiroJ. FerreiraB. HenriquesC. NobreR.J. MatosC.A. de AlmeidaL.P. NóbregaC. Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy.Cell Death Dis.20211212111710.1038/s41419‑021‑04404‑1 34845184
     [Google Scholar]
  69. NóbregaC. Carmo-SilvaS. AlbuquerqueD. Vasconcelos-FerreiraA. VijayakumarU.G. MendonçaL. HiraiH. Pereira de AlmeidaL. Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado–Joseph disease.Brain2015138123537355410.1093/brain/awv298 26490332
     [Google Scholar]
  70. GonçalvesN. SimõesA.T. CunhaR.A. de AlmeidaL.P. Caffeine and adenosine A2A receptor inactivation decrease striatal neuropathology in a lentiviral‐based model of Machado–Joseph disease.Ann. Neurol.201373565566610.1002/ana.23866 23625556
     [Google Scholar]
  71. SeixasA.I. LoureiroJ.R. CostaC. Ordóñez-UgaldeA. MarcelinoH. OliveiraC.L. LoureiroJ.L. DhingraA. BrandãoE. CruzV.T. TimóteoA. QuintánsB. RouleauG.A. RizzuP. CarracedoÁ. BessaJ. HeutinkP. SequeirosJ. SobridoM.J. CoutinhoP. SilveiraI. A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.Am. J. Hum. Genet.201710118710310.1016/j.ajhg.2017.06.007 28686858
     [Google Scholar]
  72. NibbelingE.A.R. DuarriA. Verschuuren-BemelmansC.C. FokkensM.R. KarjalainenJ.M. SmeetsC.J.L.M. de Boer-BergsmaJ.J. van der VriesG. DooijesD. BampiG.B. van DiemenC. BruntE. IppelE. KremerB. VlakM. AdirN. WijmengaC. van de WarrenburgB.P.C. FrankeL. SinkeR.J. VerbeekD.S. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Brain2017140112860287810.1093/brain/awx251 29053796
     [Google Scholar]
  73. DijkG.W. WokkeJ.H.J. OeyP.L. FranseenH. IppelP.F. VeldmanH. A new variant of sensory ataxic neuropathy with autosomal dominant inheritance.Brain199511861557156310.1093/brain/118.6.1557 8595484
     [Google Scholar]
  74. GennarinoV.A. PalmerE.E. McDonellL.M. WangL. AdamskiC.J. KoireA. SeeL. ChenC.A. SchaafC.P. RosenfeldJ.A. PanzerJ.A. MoogU. HaoS. ByeA. KirkE.P. StankiewiczP. BremanA.M. McBrideA. KandulaT. DubbsH.A. MacintoshR. CardamoneM. ZhuY. YingK. DiasK.R. ChoM.T. HendersonL.B. BaskinB. MorrisP. TaoJ. CowleyM.J. DingerM.E. RoscioliT. CaluseriuO. SuchowerskyO. SachdevR.K. LichtargeO. TangJ. BoycottK.M. HolderJ.L. ZoghbiH.Y. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures.Cell20181725924936.e1110.1016/j.cell.2018.02.006 29474920
     [Google Scholar]
  75. GenisD. Ortega-CuberoS. San NicolásH. CorralJ. GardenyesJ. de JorgeL. LópezE. CamposB. LorenzoE. TondaR. BeltranS. NegreM. ObónM. BeltranB. FàbregasL. AlemanyB. MárquezF. Ramió-TorrentàL. GichJ. VolpiniV. PastorP. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).Neurology20189121e1988e199810.1212/WNL.0000000000006550 30381368
     [Google Scholar]
  76. CoutelierM. JacoupyM. JanerA. RenaudF. AugerN. SaripellaG.V. AncienF. PucciF. RoomanM. GilisD. LarivièreR. SgariotoN. ValterR. Guillot-NoelL. Le BerI. SayahS. CharlesP. NümannA. PaulyM.G. HelmchenC. DeiningerN. HaackT.B. BraisB. BriceA. TrégouëtD.A. El HachimiK.H. ShoubridgeE.A. DurrA. StevaninG. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.Brain202214541519153410.1093/brain/awab407 34788392
     [Google Scholar]
  77. BarbierM. BahloM. PennisiA. JacoupyM. TankardR.M. EwenczykC. DaviesK.C. Lino-CoulonP. ColaceC. RafehiH. AugerN. AnsellB.R.E. van der SteltI. HowellK.B. CoutelierM. AmorD.J. MundwillerE. Guillot-NoëlL. StoreyE. GardnerR.J.M. WallisM.J. BruscoA. CortiO. RötigA. LeventerR.J. BriceA. DelatyckiM.B. StevaninG. LockhartP.J. DurrA. Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.Ann. Neurol.202292112213710.1002/ana.26366 35411967
     [Google Scholar]
  78. Corral-JuanM. CasqueroP. Giraldo-RestrepoN. LaurieS. Martinez-PiñeiroA. Mateo-MonteroR.C. IspiertoL. VilasD. TolosaE. VolpiniV. Alvarez-RamoR. SánchezI. Matilla-DueñasA. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).Brain Commun.202242fcac03010.1093/braincomms/fcac030 35310830
     [Google Scholar]
  79. RafehiH. ReadJ. SzmulewiczD.J. DaviesK.C. SnellP. FearnleyL.G. ScottL. ThomsenM. GilliesG. PopeK. BennettM.F. MunroJ.E. NgoK.J. ChenL. WallisM.J. ButlerE.G. KumarK.R. WuK.H.C. TomlinsonS.E. TischS. MalhotraA. Lee-ArcherM. DolzhenkoE. EberleM.A. RobertsL.J. FogelB.L. BrüggemannN. LohmannK. DelatyckiM.B. BahloM. LockhartP.J. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.Am. J. Hum. Genet.2023110110511910.1016/j.ajhg.2022.11.015 36493768
     [Google Scholar]
  80. HsiaoC.T. LiaoN.Y. LiaoY.C. LeeY.C. THAP11 CAG repeat expansion is rare or absent in the taiwanese cohort with cerebellar ataxia.Mov. Disord.202439592492510.1002/mds.29800 38757579
     [Google Scholar]
  81. ZhuC-Y. LiC-Y. LiY. ZhanY-Q. LiY-H. XuC-W. XuW-X. SunH.B. YangX-M. Cell growth suppression by thanatos-associated protein 11 (THAP11) is mediated by transcriptional downregulation of c-Myc.Cell Death Differ.200916339540510.1038/cdd.2008.160 19008924
     [Google Scholar]
  82. RossC.A. TabriziS.J. Huntington’s disease: From molecular pathogenesis to clinical treatment.Lancet Neurol.2011101839810.1016/S1474‑4422(10)70245‑3 21163446
     [Google Scholar]
  83. JinJ.L. LiuZ. LuZ.J. GuanD.N. WangC. ChenZ.B. ZhangJ. ZhangW.Y. WuJ.Y. XuY. Safety and efficacy of umbilical cord mesenchymal stem cell therapy in hereditary spinocerebellar ataxia.Curr. Neurovasc. Res.2013101112010.2174/156720213804805936 23151076
     [Google Scholar]
  84. TsaiY.A. LiuR.S. LirngJ.F. YangB.H. ChangC.H. WangY.C. WuY.S. HoJ.H.C. LeeO.K. SoongB.W. Treatment of spinocerebellar ataxia with mesenchymal stem cells: A phase I/IIa clinical study.Cell Transplant.201726350351210.3727/096368916X694373 28195034
     [Google Scholar]
  85. Vázquez-MojenaY. León-ArciaK. González-ZaldivarY. Rodríguez-LabradaR. Velázquez-PérezL. Gene therapy for polyglutamine spinocerebellar ataxias: Advances, challenges, and perspectives.Mov. Disord.202136122731274410.1002/mds.28819 34628681
     [Google Scholar]
  86. CostaM.C. PaulsonH.L. Toward understanding Machado-Joseph disease.Prog. Neurobiol.201297223925710.1016/j.pneurobio.2011.11.006 22133674
     [Google Scholar]
  87. IngramM.A.C. OrrH.T. ClarkH.B. Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias.Brain Res. Bull.2012881334210.1016/j.brainresbull.2011.07.016 21810454
     [Google Scholar]
  88. BurrightE.N. Brent ClarkH. ServadioA. MatillaT. FeddersenR.M. YunisW.S. DuvickL.A. ZoghbiH.Y. OrrH.T. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat.Cell199582693794810.1016/0092‑8674(95)90273‑2 7553854
     [Google Scholar]
  89. HuynhD.P. FigueroaK. HoangN. PulstS.M. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.Nat. Genet.2000261445010.1038/79162 10973246
     [Google Scholar]
  90. IkedaH. YamaguchiM. SugaiS. AzeY. NarumiyaS. KakizukaA. Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo.Nat. Genet.199613219620210.1038/ng0696‑196 8640226
     [Google Scholar]
  91. SaegusaH. WakamoriM. MatsudaY. WangJ. MoriY. ZongS. TanabeT. Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.Mol. Cell. Neurosci.200734226127010.1016/j.mcn.2006.11.006 17188510
     [Google Scholar]
  92. YvertG. LindenbergK.S. PicaudS. LandwehrmeyerG.B. SahelJ.A. MandelJ.L. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.Hum. Mol. Genet.20009172491250610.1093/hmg/9.17.2491 11030754
     [Google Scholar]
  93. FriedmanM.J. ShahA.G. FangZ.H. WardE.G. WarrenS.T. LiS. LiX.J. Polyglutamine domain modulates the TBP-TFIIB interaction: Implications for its normal function and neurodegeneration.Nat. Neurosci.200710121519152810.1038/nn2011 17994014
     [Google Scholar]
  94. HasuikeY. TanakaH. Gall-DuncanT. MehkaryM. NakataniK. PearsonC.E. TsujiS. MochizukiH. NakamoriM. CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy.Neurobiol. Dis.202216310560410.1016/j.nbd.2021.105604 34968706
     [Google Scholar]
  95. TowerC. FuL. GillR. PrichardM. LesortM. SztulE. Human cytomegalovirus UL97 kinase prevents the deposition of mutant protein aggregates in cellular models of Huntington’s disease and Ataxia.Neurobiol. Dis.2011411112210.1016/j.nbd.2010.08.013 20732421
     [Google Scholar]
  96. ItoN. KamiguchiK. NakanishiK. SokolovskyaA. HirohashiY. TamuraY. MuraiA. YamamotoE. KanasekiT. TsukaharaT. KochinV. ChibaS. ShimohamaS. SatoN. TorigoeT. A novel nuclear DnaJ protein, DNAJC8, can suppress the formation of spinocerebellar ataxia 3 polyglutamine aggregation in a J-domain independent manner.Biochem. Biophys. Res. Commun.2016474462663310.1016/j.bbrc.2016.03.152 27133716
     [Google Scholar]
/content/journals/cn/10.2174/011570159X360111250502055242
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The Status and Future Directions of Treatments for Polyglutamine Spinocerebellar Ataxia: A Bibliometric and Visual Analysis
Curr. Neuropharmacol. 24, 95 (2026); https://doi.org/10.2174/011570159X360111250502055242
/content/journals/cn/10.2174/011570159X360111250502055242
/content/journals/cn/10.2174/011570159X360111250502055242
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  • Article Type:     Research Article
Keyword(s): Bibliometrics; CiteSpace; gene therapy; polyglutamate spinocerebellar ataxia; treatment; VOSviewer

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