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Deep brain stimulation for patients with dystonia in Machado–Joseph disease: three case reports

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Data availability statement

The data that support the findings of this study are available from the corresponding author, [RO], upon reasonable request. The data are not publicly available due to [restrictions e.g. their containing information that could compromise the privacy of research participants].

References

  1. Gwinn-Hardy K, Singleton A, O’Suilleabhain P, Boss M, Nicholl D, Adam A, Hussey J, Critchley P, Hardy J, Farrer M (2001) Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol 58:296–299. https://doi.org/10.1001/archneur.58.2.296

    Article  CAS  PubMed  Google Scholar 

  2. Buhmann C, Bussopulos A, Oechsner M (2003) Dopaminergic response in Parkinsonian phenotype of Machado-Joseph disease. Mov Disord 18:219–221. https://doi.org/10.1002/mds.10322

    Article  PubMed  Google Scholar 

  3. Lu CS, Chang HC, Kuo PC, Liu YL, Wu WS, Weng YH, Yen TC, Chou YH (2004) The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. Parkinsonism Relat Disord 10:369–373. https://doi.org/10.1016/j.parkreldis.2004.03.009

    Article  PubMed  Google Scholar 

  4. Münchau A, Dressler D, Bhatia KP, Vogel P, Zühlke C (1999) Machado-Joseph disease presenting as severe generalised dystonia in a German patient. J Neurol 246:840–842. https://doi.org/10.1007/s004150050465

    Article  PubMed  Google Scholar 

  5. Wilder-Smith E, Tan EK, Law HY, Zhao Y, Ng I, Wong MC (2003) Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family. J Neurol Sci 213:25–28. https://doi.org/10.1016/s0022-510x(03)00129-1

    Article  CAS  PubMed  Google Scholar 

  6. Nandagopal R, Moorthy SG (2004) Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3. Postgrad Med J 80:363–365. https://doi.org/10.1136/pgmj.2003.015297

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Méndez-Guerrero A, Uriarte-Pérez de Urabayen D, Llamas-Velasco S (2018) Spinocerebellar ataxia type 3 presenting with writer’s cramp without ataxia. Int J Neurosci 128:684–685. https://doi.org/10.1080/00207454.2017.1408621

    Article  PubMed  Google Scholar 

  8. Mitchell N, LaTouche GA, Nelson B, Figueroa KP, Walker RH, Sobering AK (2019) Childhood-onset spinocerebellar ataxia 3: tongue dystonia as an early manifestation. Tremor Other Hyperkinet Mov (N Y) 13:9. https://doi.org/10.7916/tohm.v0.704

    Article  Google Scholar 

  9. Beaulieu-Boire I, Aquino CC, Fasano A, Poon YY, Fallis M, Lang AE, Hodaie M, Kalia SK, Lozano A, Moro E (2016) Deep brain stimulation in rare inherited dystonias. Brain Stimul 9:905–910. https://doi.org/10.1016/j.brs.2016.07.009

    Article  PubMed  Google Scholar 

  10. Aupy J, Chaumont H, Bestaven E, Guillaud E, Cuny E, Goizet C, Burbaud P, Guehl D (2018) Globus pallidus internus stimulation in spino-cerebellar ataxia type 3. J Neurol 265:1714–1716. https://doi.org/10.1007/s00415-018-8922-8

    Article  PubMed  Google Scholar 

  11. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J (1985) Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 35:73–77. https://doi.org/10.1212/wnl.35.1.73

    Article  CAS  PubMed  Google Scholar 

  12. Vidailhet M, Jutras MF, Grabli D, Ferreira J, Costa J (2013) Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry 84:1029–1042. https://doi.org/10.1136/jnnp-2011-301714

    Article  PubMed  Google Scholar 

  13. Klockgether T, Kramer B, Lüdtke R, Schöls L, Laccone F (1996) Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 21:830. https://doi.org/10.1016/S0140-6736(05)65255-5

    Article  Google Scholar 

  14. Leotti VB, de Vries JJ, Oliveira CM, de Mattos EP, Te Meerman GJ, Brunt ER, Kampinga HH, Jardim LB, Verbeek DS (2021) CAG repeat size influences the progression rate of spinocerebellar ataxia type 3. Ann Neurol 89:66–73. https://doi.org/10.1002/ana.25919

    Article  CAS  PubMed  Google Scholar 

  15. Costa MDC (2020) Recent therapeutic prospects for Machado-Joseph disease. Curr Opin Neurol 33:519–526. https://doi.org/10.1097/WCO.0000000000000832

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We are very grateful to Dr. Makoto Taniguchi. He treated our three patients as the head of the Department of Neurosurgery at the Tokyo Metropolitan Neurological Hospital. Unfortunately, he passed away in 2020. We are also very grateful to the staff of the Neurology and Neurosurgery Departments of the Tokyo Metropolitan Neurological Hospital who helped us in our practice (especially Akihiro Yugeta, Takao Shichi, Katsunari Watanabe, and Takashi Kawasaki).

Funding

No specific funding was received for this work.

Author information

Authors and Affiliations

Authors

Contributions

Conception: JI, organization: JI, FY, RO, AI, TA, YS, TT, and KT. execution: JI, FY, RO, AI, TA, YS, TT, and KT. Writing of the first draft: JI, review, and critique: JI, FY, RO, AI, TA, YS, TT, and KT.

Corresponding author

Correspondence to Ryoichi Okiyama.

Ethics declarations

Conflict of interest

The authors declare no conflicts of interest associated with this manuscript. Unrelated to this work, Fusako Yokochi received grants from InSightec, Ltd., for a trial on focused ultrasound for Parkinson’s disease.

Ethical approval

The authors confirm that approval from an institutional review board was not required for this study. We also confirm that the patients provided written informed consent for the publication of their videos. In addition, we confirm that we have read the journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

Supplementary Information

Below is the link to the electronic supplementary material.

The video shows a 29-year-old male patient with MJD with dystonia (Case 3). Painful dystonia was pronounced in both the upper and lower extremities before surgery. The patient was able to stand with assistance following surgery, with improvement in the apex foot position. Supplementary file1 (MP4 42990 KB)

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Ikezawa, J., Yokochi, F., Okiyama, R. et al. Deep brain stimulation for patients with dystonia in Machado–Joseph disease: three case reports. J Neurol 270, 3261–3265 (2023). https://doi.org/10.1007/s00415-023-11627-z

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  • DOI: https://doi.org/10.1007/s00415-023-11627-z

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