Case report

doi: 10.25005/2074-0581-2022-24-3-413-420
DYT-6 DYSTONIA WITH DRUG INDUCED CHOREA AND AN EXCELLENT RESPONSE TO GPI DEEP BRAIN STIMULATION

Zh. Myrzayev1, Ch. Shashkin1,2, D. Bagautdinov1, H. Houlden3, R. Kaiyrzhanov3

1Shashkin Clinic, Almaty, Republic of Kazakhstan
2International Institute of Postgraduate Education, Department of neurology and neurosurgery, Almaty, Republic of Kazakhstan
3Department of Neuromuscular Disorders, Institute of Neurology, UCL, London, United Kingdom

Dystonia-6 (DYT-THAP1, DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization. DYT6 is caused by heterozygous variants in the THAP domain-containing protein 1 (THAP1) gene. Currently, more than 90 different pathogenic missense and truncating THAP1 variants have been reported – mainly in people from Europe but also from China and Brazil. However, no cases of genetically confirmed DYT6 have been described in Central Asian countries. Here the first case of genetically confirmed DYT6-dystonia from Central Asia is described. The proband had adolescent-onset focal dystonia with secondary generalization, trihexyphenidyl induced persistent chorea and robust and sustained response to globus pallidus internus deep brain stimulation. Her definitive diagnosis has been made 39 years after the onset of the disease keeping her for almost 4 decades disabled. This paper highlights the urgent need for movement disorders specialists in Central Asia as well as access to free genetic testing and deep brain stimulation surgery.

Keywords: Dystonia, genetics, movement disorders, DBS, DYT6.

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Author information:


Zhanybek Myrzayev
BSc, Neurologist, Shashkin Clinic
E-mail: myrzaevjanik@gmail.com

Chingiz Shashkin
Candidate of Medical Sciences, Neurologist, Shashkin Clinic; Department of Neurology and Neurosurgery, International Institute of Postgraduate Education
Scopus ID: 57209652428
ORCID ID: 0000-0002-8162-4864
E-mail: chingizshashkin@gmail.com

Daniyar Bagautdinov
Neurosurgeon, Shashkin Clinic
E-mail: tiedgear@gmail.com

Henry Houlden
MD, PhD, Professor of Neurology and Neurogenetics, Institute of Neurology, University College London
Scopus ID: 7003363686
ORCID ID: 0000-0002-2866-7777
E-mail: h.houlden@ucl.ac.uk

Rauan Kaiyrzhanov
Master of Science, PhD Fellow, Institute of Neurology, University College London
Scopus ID: 57204642274
ORCID ID: 0000-0003-1640-4010
E-mail: rauan.kaiyrzhanov.14@ucl.ac.uk

Information about support in the form of grants, equipment, medications

This research was funded in part, by the Wellcome Trust [WT093205MA, WT104033AIA and the Synaptopathies Strategic Award, 165908]. This study was funded by the Medical research council (MRC) (MR/S01165X/1, MR/ S005021/1, G0601943). The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:


Rauan Kaiyrzhanov
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology Queen Square, London, WC1N 3BG, United Kingdom

Tel.: +44 (0) 02034484069

E-mail: rauan.kaiyrzhanov.14@ucl.ac.uk

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