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Title: Thap1 Mutation Segmental Dystonia- A Case Report
e-poster Number: INSIM102
Category: Neurosurgery
Author Name: Raj Agarbattiwala
Institute: Jaslok Hospital and Research Center
Co-Author Name: Paresh Doshi, Manish Baldhia, Bharati Karkera
Abstract :
Introduction
Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). Deep brain stimulation (DBS) is a well-established treatment of dystonia and genetic etiology influence the response of treatment.
Methods
A 30 years old male patient was presented with adolescence onset segmental dystonia. He had tried medical management and multiple episodes of Botox injections in multiple centers for more than 10 years. Genetic analysis showed THAP1 mutation. He underwent bilateral Globus Pallidus Interna (GPi) DBS. Follow up examination was done after 3 months of DBS. His Burke Fahn Marsden Dystonia Rating Scale (BFMDRS), Dystonia Disability Scale (DDS) and Toronto Western Spasmodic Torticollis Rating Scale (TWSRTS) served as outcome measures.
Results and Discussion
On 3 months follow up, patient’s BFMDRS, DDS and TWSRTS were reduced to 68%, 37.5% and 100% respectively.
Effectiveness of bilateral GPi DBS for the treatment of generalised and segmental dystonia is variable. Recent multicentric study (Danielsson et al 2019) including 14 patients with THAP1 mutation showed clinical median 58% reduction in BFMDRS score at a median time of 4 years and 10 months. However, the effects on speech and swallowing were less obvious as only 4 out of 14 showed improvement. We also found comparable reduction in above mentioned scales in our patient and he showed significant improvement in speech and swallowing.
Conclusion
Though study in more patients is necessary, after bilateral GPi DBS in our patient with THAP1 dystonia, overall improvement by BFMDRS scale is satisfactory.
