scholarly journals Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis

2019 ◽  
Vol 11 (2) ◽  
pp. 199-204
Author(s):  
Alby Richard ◽  
Joey Hsu ◽  
Patricia Baum ◽  
Ron Alterman ◽  
David K. Simon

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include chorea and dystonia with involuntary lip, cheek, and tongue biting. Some patients also have seizures. Treatment for ChAc is symptomatic. A small number of ChAc patients have been treated with bilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi), and we now present an additional case. Patient chart, functional measures, and laboratory findings were reviewed from the time of ChAc diagnosis until 6 months after DBS surgery. Here, we present a case of ChAc in a 31-year-old male positive for VPS13A gene mutations who presented with chorea, tongue biting, dysarthria, weight loss, and mild cognitive dysfunction. DBS using monopolar stimulation with placement slightly lateral to the GPi was associated with significant improvement in chorea and dysarthria. This case adds to the current state of knowledge regarding the efficacy and safety of bilateral GPi-DBS for symptomatic control of drug-resistant hyperkinetic movements seen in ChAc. Controlled trials are needed to better assess the impact and ideal target of DBS in ChAc.

Author(s):  
A Richard ◽  
R Alterman ◽  
D Simon

Background: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include chorea and dystonia with involuntary lip, cheek and tongue biting. Some patients also have seizures. Treatment for ChAc is symptomatic. A small number of ChAc patients have been treated with bilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi), and we now present an additional case. Methods: Patient chart, functional measures, and laboratory findings were reviewed from the time of ChAc diagnosis until 6 months after deep brain stimulation (DBS) surgery. Results: Here we present a case of ChAc in a 31 year old male positive for VPS13A gene muations who presented with chorea, tongue biting, dysarthria, weight loss, and mild cognitive dysfunction. GPi-DBS using monopolar stimulation was associated with significant improvement in chorea and dysarthria. Conclusions: This case adds to the current state of knowledge regarding the efficacy and safety of bilateral GPi-DBS for symptomatic control of drug-resistant hyperkinetic movements seen in ChAc. Controlled trials are needed to better assess the impact of DBS in ChAc.


2021 ◽  
Vol 19 ◽  
Author(s):  
Yu Jin Jung ◽  
Han-Joon Kim ◽  
Sun Ha Paek ◽  
Beomseok Jeon

: Sleep-wake disturbances (SWD) are one of the most common non-motor symptoms in Parkinson's disease (PD) and can appear in the early stage even before the onset of motor symptoms. Deep brain stimulation (DBS) is an established treatment for the motor symptoms in patients with advanced PD. However, the effect of DBS on SWD and its specific mechanisms are not widely understood and remain controversial. In addition to the circuit-mediated direct effect, DBS may improve SWD by an indirect effect such as the resolution of nocturnal motor complications and a reduction of dopaminergic medication. Here, the authors review the recent literatures regarding the impact of DBS on SWD in patients with PD. Furthermore, the selection of the DBS targets and the specific effects of applying DBS to each target on SWD in PD are also discussed.


2009 ◽  
Vol 110 (6) ◽  
pp. 1283-1290 ◽  
Author(s):  
Ludvic Zrinzo ◽  
Arjen L. J. van Hulzen ◽  
Alessandra A. Gorgulho ◽  
Patricia Limousin ◽  
Michiel J. Staal ◽  
...  

Object The authors examined the accuracy of anatomical targeting during electrode implantation for deep brain stimulation in functional neurosurgical procedures. Special attention was focused on the impact that ventricular involvement of the electrode trajectory had on targeting accuracy. Methods The targeting error during electrode placement was assessed in 162 electrodes implanted in 109 patients at 2 centers. The targeting error was calculated as the shortest distance from the intended stereotactic coordinates to the final electrode trajectory as defined on postoperative stereotactic imaging. The trajectory of these electrodes in relation to the lateral ventricles was also analyzed on postoperative images. Results The trajectory of 68 electrodes involved the ventricle. The targeting error for all electrodes was calculated: the mean ± SD and the 95% CI of the mean was 1.5 ± 1.0 and 0.1 mm, respectively. The same calculations for targeting error for electrode trajectories that did not involve the ventricle were 1.2 ± 0.7 and 0.1 mm. A significantly larger targeting error was seen in trajectories that involved the ventricle (1.9 ± 1.1 and 0.3 mm; p < 0.001). Thirty electrodes (19%) required multiple passes before final electrode implantation on the basis of physiological and/or clinical observations. There was a significant association between an increased requirement for multiple brain passes and ventricular involvement in the trajectory (p < 0.01). Conclusions Planning an electrode trajectory that avoids the ventricles is a simple precaution that significantly improves the accuracy of anatomical targeting during electrode placement for deep brain stimulation. Avoidance of the ventricles appears to reduce the need for multiple passes through the brain to reach the desired target as defined by clinical and physiological observations.


2014 ◽  
Vol 4 (2) ◽  
pp. 289-300 ◽  
Author(s):  
Lisa Klingelhoefer ◽  
Michael Samuel ◽  
K. Ray Chaudhuri ◽  
Keyoumars Ashkan

2019 ◽  
Vol 132 ◽  
pp. e487-e495
Author(s):  
Ryan B. Kochanski ◽  
Sander Bus ◽  
Bledi Brahimaj ◽  
Alireza Borghei ◽  
Kristen L. Kraimer ◽  
...  

2019 ◽  
Vol 130 (2) ◽  
pp. 629-638 ◽  
Author(s):  
Kingsley O. Abode-Iyamah ◽  
Hsiu-Yin Chiang ◽  
Royce W. Woodroffe ◽  
Brian Park ◽  
Francis J. Jareczek ◽  
...  

OBJECTIVEDeep brain stimulation is an effective surgical treatment for managing some neurological and psychiatric disorders. Infection related to the deep brain stimulator (DBS) hardware causes significant morbidity: hardware explantation may be required; initial disease symptoms such as tremor, rigidity, and bradykinesia may recur; and the medication requirements for adequate disease management may increase. These morbidities are of particular concern given that published DBS-related infection rates have been as high as 23%. To date, however, the key risk factors for and the potential preventive measures against these infections remain largely uncharacterized. In this study, the authors endeavored to identify possible risk factors for DBS-related infection and analyze the efficacy of prophylactic intrawound vancomycin powder (VP).METHODSThe authors performed a retrospective cohort study of patients who had undergone primary DBS implantation at a single institution in the period from December 2005 through September 2015 to identify possible risk factors for surgical site infection (SSI) and to assess the impact of perioperative (before, during, and after surgery) prophylactic antibiotics on the SSI rate. They also evaluated the effect of a change in the National Healthcare Safety Network’s definition of SSI on the number of infections detected. Statistical analyses were performed using the 2-sample t-test, the Wilcoxon rank-sum test, the chi-square test, Fisher’s exact test, or logistic regression, as appropriate for the variables examined.RESULTSFour hundred sixty-four electrodes were placed in 242 adults during 245 primary procedures over approximately 10.5 years; most patients underwent bilateral electrode implantation. Among the 245 procedures, 9 SSIs (3.7%) occurred within 90 days and 16 (6.5%) occurred within 1 year of DBS placement. Gram-positive bacteria were the most common etiological agents. Most patient- and procedure-related characteristics did not differ between those who had acquired an SSI and those who had not. The rate of SSIs among patients who had received intrawound VP was only 3.3% compared with 9.7% among those who had not received topical VP (OR 0.32, 95% CI 0.10–1.02, p = 0.04). After controlling for patient sex, the association between VP and decreased SSI risk did not reach the predetermined level of significance (adjusted OR 0.32, 95% CI 0.10–1.03, p = 0.06). The SSI rates were similar after staged and unstaged implantations.CONCLUSIONSWhile most patient-related and procedure-related factors assessed in this study were not associated with the risk for an SSI, the data did suggest that intrawound VP may help to reduce the SSI risk after DBS implantation. Furthermore, given the implications of SSI after DBS surgery and the frequency of infections occurring more than 90 days after implantation, continued follow-up for at least 1 year after such a procedure is prudent to establish the true burden of these infections and to properly treat them when they do occur.


2018 ◽  
Vol 15 (5) ◽  
pp. 584-588 ◽  
Author(s):  
Ryan B Kochanski ◽  
Pouya Nazari ◽  
Sepehr Sani

Abstract BACKGROUND The impact of vancomycin powder on reducing postoperative surgical site infections (SSIs) in spine surgery has been studied extensively and is considered standard of care at many institutions. More recently, vancomycin powder has been shown to reduce SSI in cranial neurosurgery; however, limited studies have been performed assessing its impact in reducing SSIs in deep brain stimulation (DBS) surgery. OBJECTIVE To investigate the use of vancomycin powder as an adjunct to the current antibiotic prophylaxis regimen in DBS surgery in a large cohort of patients. METHODS All patients undergoing DBS-lead implantation surgery and chest generator placement or exchange were analyzed prior to and after the implementation of intrawound vancomycin powder, and the impact on infection rate and any complications were subsequently examined. RESULTS From 2015 to 2017, a total of 419 consecutive patients (159 in the pretreatment group, 260 in the post-treatment group) were included in the study. The rate of SSI prior to implementation of intrawound vancomycin was 3.1% (n = 5), which was reduced to 0.38% (n = 1) in the post-treatment group. No complications were noted as a direct result of using vancomycin powder. CONCLUSION Given its relatively low cost and side effect profile, the use of vancomycin powder may be an effective adjunct in reducing the rate of SSI in DBS surgery.


2020 ◽  
Vol 91 (12) ◽  
pp. 1349-1356
Author(s):  
Stephan Chabardes ◽  
Paul Krack ◽  
Brigitte Piallat ◽  
Thierry Bougerol ◽  
Eric Seigneuret ◽  
...  

BackgroundObsessive–compulsive disorder (OCD) is a major cause of disability in western country and responsible for severe impairment of quality of life. About 10% of patients present with severe OCD symptoms and require innovative treatment such as deep brain stimulation (DBS). Among possible targets, the non-motor subthalamic nucleus (STN) is a key node of the basal ganglia circuitry, strongly connected to limbic cortical areas known to be involved in OCD.MethodWe analysed, in a prospective, observational, monocentric, open label cohort, the effect of chronic non-motor STN-DBS in 19 patients with treatment-resistant OCD consecutively operated in a single centre. Severity of OCD was evaluated using the Yale and Brown Obsessive–Compulsive Scale (YBOCS). YBOCS scores at 6, 12 and 24 months postoperatively were compared with baseline. Responders were defined by >35% improvement of YBOCS scores. Global Assessment Functioning (GAF) scale was used to evaluate the impact of improvement.ResultsAt a 24-month follow-up, the mean YBOCS score improved by 53.4% from 33.3±3.5 to 15.8±9.1 (95% CI 11.2–20.4; p<0.0001). Fourteen out of 19 patients were considered as responders, 5 out of 19 being improved over 75% and 10 out of 19 over 50%. GAF scale improved by 92% from 34.1±3.9 to 66.4±18.8 (95% CI 56.7–76.1; p=0.0003). The most frequent adverse events consisted of transient DBS-induced hypomania and anxiety.ConclusionChronic DBS of the non-motor STN is an effective and relatively safe procedure to treat severe OCD resistant to conventional management.


Sign in / Sign up

Export Citation Format

Share Document