Genetic Mutations and Deep Brain Stimulation

2020 ◽  
pp. 59-64
Author(s):  
Jared Hinkle ◽  
Ankur Butala ◽  
Valeriy Parfenov ◽  
Kelly A. Mills ◽  
Zoltan Mari
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Neurodegenerative Disorder ◽  
Genetic Mutations ◽  
Juvenile Onset ◽  
Pathogenic Variants ◽  
Significant Amelioration ◽  
Single Transition ◽  
Pars Interna ◽  
Deep Brain

Parkinson disease (PD) is a neurodegenerative disorder characterized by rest tremor, rigidity, bradykinesia, and postural instability. While most cases of PD are sporadic in nature, cases secondary to genetic mutations have been identified. These are typically monogenic and often present as early-onset or juvenile-onset PD. While rare, individuals with PD may harbor multiple pathogenic variants in PD-linked genes, potentially leading to more severe presentations. This chapter reviews available data regarding deep brain stimulation (DBS) targets and DBS outcomes in cases that are genetically proved to be PD. We report a patient with juvenile-onset PD whose course featured severe peak-dose dyskinesias and generalized off dystonias. Genetic testing supported a rare diagnosis of digenic PD, with homogenous deletions in PRKN (Parkin) and a single transition in PARK6 (PINK1). Bilateral DBS electrodes were implanted into the globus pallidus pars interna (GPi), leading to significant amelioration of both off and on symptoms.

Visual Effects of Deep Brain Stimulation in a Patient with Parkinson’s Disease

2019 ◽  
pp. 158-173
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Visual System ◽  
Brain Stimulation ◽  
Neurodegenerative Disorder ◽  
Initial Examination ◽  
Before And After ◽  
Deep Brain ◽  
Cover Test

Background: Parkinson’s disease (PD) is a progressive neurodegenerative disorder caused by a dopamine deficiency that presents with motor symptoms. Visual disorders can occur concomitantly but are frequently overlooked. Deep brain stimulation (DBS) has been an effective treatment to improve tremors, stiffness and overall mobility, but little is known about its effects on the visual system. Case Report: A 75-year-old Caucasian male with PD presented with longstanding binocular diplopia. On baseline examination, the best-corrected visual acuity was 20/25 in each eye. On observation, he had noticeable tremors with an unsteady gait. Distance alternating cover test showed exophoria with a right hyperphoria. Near alternating cover test revealed a significantly larger exophoria accompanied by a reduced near point of convergence. Additional testing with a 24-2 Humphrey visual field and optical coherence tomography (OCT) of the nerve and macula were unremarkable. The patient underwent DBS implantation five weeks after initial examination, and the device was activated four weeks thereafter. At follow up, the patient still complained of intermittent diplopia. There was no significant change in the manifest refraction or prism correction. On observation, the patient had remarkably improved tremors with a steady gait. All parameters measured were unchanged. The patient was evaluated again seven months after device activation. Although vergence ranges at all distances were improved, the patient was still symptomatic for intermittent diplopia. OCT scans of the optic nerve showed borderline but symmetric thinning in each eye. All other parameters measured were unchanged. Conclusion: The case found no significant changes on ophthalmic examination after DBS implantation and activation in a patient with PD. To the best of the authors’ knowledge, there are no other cases in the literature that investigated the effects of DBS on the visual system pathway in a patient with PD before and after DBS implantation and activation.

Dramatic improvement of truncal tardive dystonia following globus pallidus pars interna deep brain stimulation

2014 ◽  
Vol 21 (3) ◽  
pp. 515-517 ◽  
Author(s):  
Benson Trinh ◽  
Ainhi D. Ha ◽  
Neil Mahant ◽  
Samuel D. Kim ◽  
Brian Owler ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Dramatic Improvement ◽  
Tardive Dystonia ◽  
Pars Interna ◽  
Deep Brain

scholarly journals Improvement in Ephedrone Parkinsonism After Global Pallidus Pars Interna Deep Brain Stimulation Implantation

2015 ◽  
Vol 3 (2) ◽  
pp. 191-193
Author(s):  
Dariusz Koziorowski ◽  
Stanislaw Szlufik ◽  
Tomasz Mandat ◽  
Maria Kloda ◽  
Karolina Duszynska-Was ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Pars Interna ◽  
Deep Brain

scholarly journals Outcome of Deep Brain Stimulation (DBS) for the Treatment of Parkinson’s Disease in Terms of Improvement in MDS-UPDRS Scale Over 5 Years

2021 ◽  
Vol 24 (4) ◽  
pp. 305-314
Author(s):  
Khalid Mahmood ◽  
Omair Afzal Ali ◽  
Adeeb-ul- Hassan ◽  
Imran Ali
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Neurodegenerative Disorder ◽  
Disease Rating ◽  
The Mean ◽  
Updrs Part ◽  
Deep Brain

Background & Objective:  Parkinson’s disease (PD) is the second most common Neurodegenerative disorder after Alzheimer’s disease. There are several surgical procedures for advanced PD, but amongst all deep brain stimulation has proven to be safest and effective. The objective of this study was to see the outcome of DBS for the treatment of PD in terms of improvement in MDS UPDRS over 5 years. Material and Methods:  44 patients were included in study from Oct 2014 to Sep 2019. History, examination was carried out, and preoperative MDS-UPDRS (Movement Disorder Society Unified Parkinson’s Disease Rating Scale) was recorded. Postoperative improvement in MDS-UPDRS score was assessed at first Programming, 2nd week, and 6th week and at 3rd month. Results:  At baseline the mean, the MDS – UPDRS (Part-I) score was 14.20 ± 0.61 and at the end of 3rd month, the mean score was 11.18 ± 0.47 respectively. At baseline the mean, the MDS – UPDRS (part-II) score was 18.99 ± 0.70 and at the end of 3rd month, the mean score was 13.01 ± 0.57, respectively. At baseline the mean, the MDS – UPDRS (part-III) score was 45.19 ± 0.90 and at the end of 3rd month, the mean score was 25.15 ± 1.20 respectively. At baseline the mean, the MDS – UPDRS (part-IV) score was 10.18 ± 0.87 and at the end of 3rd month, the mean score was 3.85 ± 1.03, respectively.  Conclusion:  The Deep Brain Stimulation (DBS) is safe and effective in the management of PD.

scholarly journals Quantifying the Neural Elements Activated and Inhibited by Globus Pallidus Deep Brain Stimulation

2008 ◽  
Vol 100 (5) ◽  
pp. 2549-2563 ◽  
Author(s):  
Matthew D. Johnson ◽  
Cameron C. McIntyre
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Network Effects ◽  
Relative Proportion ◽  
Three Dimensional ◽  
Electrode Placement ◽  
Stimulation Parameter ◽  
Pars Interna ◽  
Deep Brain

Deep brain stimulation (DBS) of the globus pallidus pars interna (GPi) is an effective therapy option for controlling the motor symptoms of medication-refractory Parkinson's disease and dystonia. Despite the clinical successes of GPi DBS, the precise therapeutic mechanisms are unclear and questions remain on the optimal electrode placement and stimulation parameter selection strategies. In this study, we developed a three-dimensional computational model of GPi-DBS in nonhuman primates to investigate how membrane channel dynamics, synaptic inputs, and axonal collateralization contribute to the neural responses generated during stimulation. We focused our analysis on three general neural elements that surround GPi-DBS electrodes: GPi somatodendritic segments, GPi efferent axons, and globus pallidus pars externa (GPe) fibers of passage. During high-frequency electrical stimulation (136 Hz), somatic activity in the GPi showed interpulse excitatory phases at 1–3 and 4–5.5 ms. When including stimulation-induced GABAA and AMPA receptor dynamics into the model, the somatic firing patterns continued to be entrained to the stimulation, but the overall firing rate was reduced (78.7 to 25.0 Hz, P < 0.001). In contrast, axonal output from GPi neurons remained largely time-locked to each pulse of the stimulation train. Similar entrainment was also observed in GPe efferents, a majority of which have been shown to project through GPi en route to the subthalamic nucleus. The models suggest that pallidal DBS may have broader network effects than previously realized and the modes of therapy may depend on the relative proportion of GPi and/or GPe efferents that are directly affected by the stimulation.

Deep Brain Stimulation in Adult Huntington Disease for Treatment of Axial Dystonia

2020 ◽  
pp. 211-216
Author(s):  
Jessica A. Karl ◽  
Kathleen Shannon ◽  
Konstantin Slavin ◽  
Leo Verhagen Metman
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Case Reports ◽  
Common Symptom ◽  
Psychiatric Disturbances ◽  
Optimal Medical Management ◽  
Recent Case Study ◽  
Deep Brain

Huntington disease (HD) is a progressive neurodegenerative disorder characterized by chorea and cognitive and psychiatric disturbances. Dystonia is also a common symptom, and a recent case study points toward 50% of HD patients having truncal dystonia. Although tetrabenazine is approved for treatment of Huntington chorea, no medications have proved efficacious for the dystonia and bradykinesia that become more prominent as the disease progresses. Although several reports have outlined the effect of globus pallidus interna (GPi) deep brain stimulation (DBS) in HD patients with a choreic phenotype, less is known about the effect of DBS in HD patients with a predominately dystonic phenotype. When specific symptoms known to respond well to DBS, such as dystonia, interfere significantly with a patient’s quality of life, and optimal medical management has failed, DBS could be considered a viable option. This case reports demonstrates the utility of bilateral GPi DBS for dystonia in a patient with HD, so long as there is no neuropsychiatric impairment that would interfere with the patient’s comprehension of the potential risks of surgery. The patient and caregivers should have realistic expectations of outcomes and be willing to follow through with regular programming.

scholarly journals Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia-Telangiectasia

2016 ◽  
Vol 3 (4) ◽  
pp. 405-408 ◽  
Author(s):  
Dejan Georgiev ◽  
Dwij Mehta ◽  
André Zacharia ◽  
Ruben Saman Vinke ◽  
Catherine Milabo ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Ataxia Telangiectasia ◽  
Pars Interna ◽  
Deep Brain ◽  
Stimulation Of

Unilateral pallidal deep brain stimulation in a patient with cervical dystonia and tremor

2010 ◽  
Vol 113 (6) ◽  
pp. 1230-1233 ◽  
Author(s):  
Cristina V. Torres ◽  
Elena Moro ◽  
Jonathan O. Dostrovsky ◽  
William D. Hutchison ◽  
Yu-Yan W. Poon ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Cervical Dystonia ◽  
Marked Improvement ◽  
Pars Interna ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain ◽  
Stimulation Of

Bilateral deep brain stimulation of the globus pallidus pars interna (GPi) is the favored neuromodulation procedure in cases of cervical dystonia. The authors report on a case of unilateral GPi implantation that resulted in sustained benefit with marked improvement in pain and dystonia.

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