Cerebellar Involvement in DYT-THAP1 Dystonia
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DYT-THAP1 dystonia is known to present a variety of clinical symptoms. To the best of our knowledge, this is the first case with DYT-THAP 1 dystonia and clinical signs of cerebellar involvement studied with transcranial magnetic stimulation in vivo. We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. To study cerebellar involvement in our patient, we used a TMS protocol called cerebellar inhibition (CBI). The lack of CBI in our patient strongly suggests cerebellar involvement. According to our findings, cerebellar syndrome may be part of the phenotypical spectrum of DYT-THAP1 mutations.
KeywordsAtaxia DYT-THAP-1 Dystonia TMS
Thanatos-associated protein 1
Transcranial magnetic stimulation
Motor evoked potential
Availability of Data and Materials
The data sets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
Compliance with Ethical Standards
Ethical Approval and Consent to Participate
All of the diagnostic procedures, performed on the patient, were carried out as a part of the clinical routine. No additional procedures on the patient were performed in relation to this study. Therefore, the need for ethical approval in this particular case is considered as waived. Moreover, written consent to participate was obtained from the patient.
Consent for Publication
A written informed consent for publication was obtained from the patient.
Conflict of Interest
SJG received honoraria and/or travel support in the past from Abbott Medical, Actelion, Boston Scientific, Medtronic, UCB, Rogue Research not related to the current study.
AS received consulting fees and/or speaker honoraria and travel support in the past from Abbott/SJM, Boston Scientific, Teva Neuroscience, UCB, MEDA Pharma, Novartis, and Abbvie. He has received research grants from the German Research Council, BMBF, the German Ministry of Education and Health, and the Helmholtz Association.
PA received compensation in the past for serving on Scientific Advisory Boards for Ipsen, Novartis, and Biogen; he received speaker honoraria and travel support in the past from Novartis, Teva, Biogen, Merz Pharmaceuticals, Ipsen, Allergan, Bayer HealthCare, Esai, UCB, and Glaxo Smith Kline; he received research support from Novartis, Biogen, Teva, Merz Pharmaceuticals, Ipsen, and Roche.
CJH received honoraria and/or travel support in the past from Abbott Medical und UCB, not related to the current study.
PN, SSH, AA, JK, and MM have no competing interests to report.
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