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Cerebellar Involvement in DYT-THAP1 Dystonia

  • Petyo Nikolov
  • Shady S Hassan
  • Aykut Aytulun
  • Christian J Hartmann
  • Jürgen Kohlhase
  • Alfons Schnitzler
  • Philipp Albrecht
  • Martina Minnerop
  • Stefan Jun GroissEmail author
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Abstract

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.

Keywords

Ataxia DYT-THAP-1 Dystonia TMS 

Abbreviations

CBI

Cerebellar inhibition

THAP1

Thanatos-associated protein 1

TMS

Transcranial magnetic stimulation

MEP

Motor evoked potential

ISI

Inter-stimulus interval

Notes

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.

Supplementary material

12311_2019_1062_MOESM1_ESM.mp4 (1.7 mb)
Video 1 Represents intention tremor during finger-nose-test. (MP4 1753 kb)
12311_2019_1062_MOESM2_ESM.mp4 (1.7 mb)
Video 2 Represents bradykinesia during finger-tap-test. (MP4 1759 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Petyo Nikolov
    • 1
    • 2
  • Shady S Hassan
    • 2
    • 3
  • Aykut Aytulun
    • 1
  • Christian J Hartmann
    • 1
    • 2
  • Jürgen Kohlhase
    • 4
  • Alfons Schnitzler
    • 1
    • 2
  • Philipp Albrecht
    • 1
  • Martina Minnerop
    • 1
    • 2
    • 5
  • Stefan Jun Groiss
    • 1
    • 2
    Email author
  1. 1.Department of Neurology, Medical FacultyHeinrich Heine University DüsseldorfDüsseldorfGermany
  2. 2.Institute of Clinical Neuroscience and Medical Psychology, Medical FacultyHeinrich Heine University DüsseldorfDüsseldorfGermany
  3. 3.Department of Neurology, Medical FacultyAssiut University HospitalAssiutEgypt
  4. 4.SYNLAB-Center for Human Genetics GmbHFreiburgGermany
  5. 5.Institute of Neuroscience and Medicine (INM-1)Research Centre JuelichJuelichGermany

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