Excellent outcome of pallidal deep brain stimulation in DYT6 dystonia: A case report

Vuletić, Vladimira; Chudy, Darko; Almahariq, Fadi; Dobričić, Valerija; Kostić, Vladimir; Bogdanović, Nenad

doi:10.1016/j.jns.2016.04.032

Cited by 9 publications

(7 citation statements)

References 10 publications

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“…Oropharyngeal and cranio-cervical symptoms are often considered to be the most disabling symptoms of DYT-THAP1 dystonia. Unfortunately, the effect of DBS on speech and swallowing in such patients has been disappointing [23,24,26], with only a few individuals demonstrating effective improvement [35,36]. A poor response of dysarthria/anarthria to GPi-DBS is probably not specific to DYT-THAP1 dystonia, since similar findings have been reported in connection with DYT-KMT2B dystonia [32].…”

Section: Discussionmentioning

confidence: 86%

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Danielsson

Carecchio

Cif

et al. 2019

JCM

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Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking. In this retrospective, multicenter follow-up case series of medical records of such patients, the clinical outcome of pallidal deep brain stimulation in DYT-THAP1 dystonia, was evaluated. The Burke Fahn Marsden Dystonia Rating Scale served as an outcome measure. Nine females and 5 males were enrolled, with a median follow-up of 4 years and 10 months after implant. All benefited from surgery: dystonia severity was reduced by a median of 58% (IQR 31-62, p = 0.001) at last follow-up, as assessed by the Burke Fahn Marsden movement subscale. In the majority of individuals, there was no improvement of speech or swallowing, and overall, the effect was greater in the trunk and limbs as compared to the cranio-cervical and orolaryngeal regions. No correlation was found between disease duration before surgery, age at surgery, or preoperative disease burden and the outcome of deep brain stimulation. Device- and therapy-related side-effects were few. Accordingly, pallidal deep brain stimulation should be considered in clinically impairing and pharmaco-resistant DYT-THAP1 dystonia. The method is safe and effective, both short- and long-term.

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Section: Discussionmentioning

confidence: 86%

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Danielsson

Carecchio

Cif

et al. 2019

JCM

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“… 10 A possible reason for this is that DYT6 patients often exhibit prominent craniocervical or oropharyngeal dystonia, which is less responsive to DBS targeting the GPi 4 , 11 than dystonia affecting the trunk and limbs. 12 Other targets such as the ventral oralis anterior nucleus of the thalamus may be evaluated in the future treatment of DYT6 patients with craniocervical or oropharyngeal dystonia as the major presenting feature. 16 In general, DBS is a safe and well-tolerated procedure for pediatric patients.…”

Section: Discussionmentioning

confidence: 99%

DYT6 Dystonia Mimicking Adolescent Idiopathic Scoliosis Successfully Treated by Pallidal Stimulation

Tai

Lee

Tseng

2021

IMCRJ

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Purpose: Dystonia type 6 (DYT6) is an autosomal dominant monogenic movement disorder that often involves craniocervical and laryngeal regions, but can in rare circumstance present as trunk dystonia or severe scoliosis. Deep brain stimulation of the globus pallidus internus (GPi-DBS) has yielded favorable results in the treatment of DYT6 patients. This report describes the case of a 14-year-old male adolescent with DYT6 dystonia and severe scoliosis who was successfully treated by GPi DBS. Patients and Methods: The diagnosis of DYT6 dystonia was made after excluding other etiologies and was confirmed by next-generation sequencing. The patient underwent bilateral GPi-DBS implantation surgery under general anesthesia. Results: The patient's Burke-Fahn-Marsden Dystonia Rating Scale score was 24 before surgery and decreased to 13.5 at 3 months, 3 at 6 months, and 2 at 12 months after bilateral GPi-DBS, corresponding to a 91% improvement from baseline to 12 months post-surgery. The patient's scoliosis improved significantly within 6 months after DBS. No complications occurred during surgery. Conclusion:An adolescent DYT6 patient with dystonia-related severe scoliosis was treated by bilateral GPi-DBS. The patient had an excellent outcome at 12 months after surgery, which prevented him from developing severe spinal deformity and disability. Early diagnosis of dystonia in adolescent patients can lead to timely and effective treatment. The etiology of severe scoliosis in adolescents should be carefully evaluated and differential diagnosis including dystonia should be considered. GPi-DBS in patients with DYT6 dystonia can prevent deformity.

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“…THAP domaincontaining protein 1 (THAP1) gene is the pathogenic gene of DYT6. Numerous cases of patients with DYT6 who underwent DBS surgery have been reported [16][17][18][19][20]; the therapeutic efficacy was not as good as that observed in patients with DYT1 [14,15]. Only 60% of patients with DYT6 experienced an average improvement of 30% in the first year following DBS, as assessed using BFMDRS.…”

Section: Primary Dystoniamentioning

confidence: 99%

Deep brain stimulation for early-onset dystonia

Wen

Yang

Bao

2019

Brain Science Advances

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Deep brain stimulation (DBS) is considered as a treatment option for many neurological diseases. Many patients with movement disorders exhibit remarkable improvement after DBS. Owing to its minimally invasive nature, reversibility, and adjustability, DBS has been increasingly used over the past several decades. Dystonia is one of the most common movement disorders among children, and there is no effective treatment. Recently, some surgeon groups have performed DBS surgery for children. However, the outcomes of DBS in children are not well characterized. Here we mainly discuss the efficacy of DBS against childhood-onset dystonia and introduce the main procedure of pediatric DBS based on our own experience.

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Excellent outcome of pallidal deep brain stimulation in DYT6 dystonia: A case report

Cited by 9 publications

References 10 publications

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

DYT6 Dystonia Mimicking Adolescent Idiopathic Scoliosis Successfully Treated by Pallidal Stimulation

Deep brain stimulation for early-onset dystonia

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