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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Costa MDC (2020) Recent therapeutic prospects for Machado-Joseph disease. Curr Opin Neurol 33:519–526. https://doi.org/10.1097/WCO.0000000000000832
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
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
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)
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-023-11627-z