Disappearance of self-mutilation in a patient with Lesch—Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus

2003 ◽  
Vol 98 (2) ◽  
pp. 414-416 ◽  
Author(s):  
Takaomi Taira ◽  
Tomonori Kobayashi ◽  
Tomokatsu Hori

✓ Lesch—Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The authors performed bilateral chronic stimulation of the globus pallidus internus for control of dystonic movements in a 19-year-old man with LNS. His self-mutilating behavior unexpectedly disappeared after chronic stimulation. This is the first case of LNS that has been successfully treated with deep brain stimulation. The findings indicate that neurobehavioral features of this syndrome are either mediated in the basal ganglia pathways or secondary to the dystonia.

2004 ◽  
Vol 101 (2) ◽  
pp. 189-194 ◽  
Author(s):  
Philippe Coubes ◽  
Laura Cif ◽  
Hassan El Fertit ◽  
Simone Hemm ◽  
Nathalie Vayssiere ◽  
...  

Object. Primary generalized dystonia (PGD) is a medically refractory disease of the brain causing twisting or spasmodic movements and abnormal postures. In more than 30% of cases it is associated with the autosomal DYT1 mutation. Continuous electrical stimulation of the globus pallidus internus (GPi) has been used successfully in the treatment of PGD. The aim of this study was to examine the long-term efficacy and safety of deep brain stimulation (DBS) in the treatment of PGD in children and adults with and without the DYT1 mutation. Methods. Thirty-one patients with PGD were selected for surgery. Electrodes were bilaterally implanted under stereotactic guidance and connected to neurostimulators that were inserted subcutaneously. Efficacy was evaluated by comparing scores on the clinical and functional Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) before and after implantation. The efficacy of stimulation improved with time. After 2 years, compared with preoperative values, the mean (± standard deviation) clinical and functional BFMDRS scores had improved by 79 ± 19% and 65 ± 33%, respectively. At the 2-year follow-up examination the improvement was comparable in patients with and without the DYT1 mutation in both the functional (p = 0.12) and clinical (p = 0.33) scores. Children displayed greater improvements in the clinical score than adult patients (p = 0.04) at 2 years of follow up. In contrast, there was no significant difference in functional scores between children and adults (p = 0.95). Conclusions. Electrical stimulation of the GPi is an effective, reversible, and adaptable treatment for PGD and should be considered for conditions refractory to pharmaceutical therapies.


2004 ◽  
Vol 101 (2) ◽  
pp. 195-200 ◽  
Author(s):  
Antonella Peppe ◽  
Mariangela Pierantozzi ◽  
Andrea Bassi ◽  
Maria Grazia Altibrandi ◽  
Livia Brusa ◽  
...  

Object. The authors compared the effects of deep brain stimulation (DBS) in the globus pallidus internus (GPi) with those in the subthalamic nucleus (STN) in patients with Parkinson disease (PD) in whom electrodes had been bilaterally implanted in both targets. Methods. Eight of 14 patients with advanced PD in whom electrodes had been implanted bilaterally in both the GPi and STN for DBS were selected on the basis of optimal DBS effects and were studied 2 months postsurgery in offand on-stimulus conditions and after at least 1 month of pharmacological withdrawal. Subcutaneous administration of an apomorphine test dose (0.04 mg/kg) was also performed in both conditions. Compared with the off status, the results showed less reduction in the Unified PD Rating Scale Section III scores during DBS in the GPi (43.1%) than during DBS of the STN (54.5%) or DBS of both the STN and GPi (57.1%). The difference between the effects of DBS in the GPi compared with that in the STN or simultaneous DBS was statistically significant (p < 0.01). In contrast, no statistical difference was found between DBS in the STN and simultaneous DBS in the STN and GPi (p < 0.9). The improvement induced by adding apomorphine administration to DBS was similar in all three stimulus modalities. The abnormal involuntary movements (AIMs) induced by apomorphine were almost abolished by DBS of the GPi, but were not affected by stimulation of the STN. The simultaneous stimulation of STN and GPi produced both antiparkinsonian and anti-AIM effects. Conclusions. The improvement of parkinsonian symptoms during stimulation of the GPi, STN, and both nuclei simultaneously may indicate a similar DBS mechanism for both nuclei in inducing antiparkinsonian effects, although STN is more effective. The antidyskinetic effects produced only by DBS of the GPi, with or without STN, may indicate different mechanisms for the antidyskinetic and antiparkinsonian activity related to DBS of the GPi or an additional mechanism in the GPi. These findings indicate that implantation of double electrodes for DBS should not be proposed as a routine procedure, but could be considered as a possible subsequent choice if electrode implantation for DBS of the STN does not control AIMs.


2004 ◽  
Vol 101 (2) ◽  
pp. 181-188 ◽  
Author(s):  
Nathalie Vayssiere ◽  
Niels van der Gaag ◽  
Laura Cif ◽  
Simone Hemm ◽  
Regis Verdier ◽  
...  

Object. In patients with dystonia, symptoms vary greatly in their extent and severity. The efficacy of pallidal stimulation is now established, but an interindividual variability in the responses to this treatment exists. A retrospective analysis of postoperative magnetic resonance (MR) images demonstrated millimetric variations in the positions of electrode contacts inside the posterolateroventral portion of the globus pallidus internus (GPi). It therefore seemed very likely that there is a somatotopic organization within the GPi. The goal of this study was to examine the positions of specific electrode contacts according to patients' clinical evolution, so that a somatotopic organization within the GPi could be defined. Methods. This study included 19 patients (17 of whom were right handed) with generalized dystonia who were treated by bilateral stimulation of the GPi. Patients were examined pre- and postoperatively by using the Burke-Fahn-Marsden Dystonia Rating Scale. Dividing the patient's body into three parts—cervicoaxial area, superior limb, and inferior limb—we determined the following: 1) where the dystonic symptoms started; 2) where symptoms predominated at the time of surgery; and 3) where the highest postoperative improvement was observed. Variations in clinical response were correlated to the positions of the electrode contacts. All activated electrode contacts were in the posterolateroventral portion of the GPi (Laitinen target). A correlation between the contact location measured longitudinally and the part of the body in which the highest improvement was observed (three different areas; p = 0.004) showed that a location more anterior for the inferior limb and one more posterior for the superior limb were delineated for the right side, but not for the left side. Conclusions. Inside the posterolateroventral subvolume of the GPi on the right side, three statistically different locations of electrode contacts were determined to be primary deep brain stimulation treatment sites for particular body parts in cases of dystonia.


2004 ◽  
Vol 100 (6) ◽  
pp. 997-1001 ◽  
Author(s):  
Mitsuhiro Ogura ◽  
Naoyuki Nakao ◽  
Ekini Nakai ◽  
Yuji Uematsu ◽  
Toru Itakura

Object. Although chronic electrical stimulation of the globus pallidus (GP) has been shown to ameliorate motor disabilities in Parkinson disease (PD), the underlying mechanism remains to be clarified. In this study the authors explored the mechanism for the effects of deep brain stimulation of the GP by investigating the changes in neurotransmitter levels in the cerebrospinal fluid (CSF) during the stimulation. Methods. Thirty patients received chronic electrical stimulation of the GP internus (GPi). Clinical effects were assessed using the Unified PD Rating Scale (UPDRS) and the Hoehn and Yahr Staging Scale at 1 week before surgery and at 6 and 12 months after surgery. One day after surgery, CSF samples were collected through a ventricular tube before and 1 hour after GPi stimulation. The concentration of neurotransmitters such as γ-aminobutyric acid (GABA), noradrenaline, dopamine, and homovanillic acid (HVA) in the CSF was measured using high-performance liquid chromatography. The treatment was effective for tremors, rigidity, and drug-induced dyskinesia. The concentration of GABA in the CSF increased significantly during stimulation, although there were no significant changes in the level of noradrenaline, dopamine, and HVA. A comparison between an increased rate of GABA concentration and a lower UPDRS score 6 months postimplantation revealed that the increase in the GABA level correlated with the stimulation-induced clinical effects. Conclusions. Stimulation of the GPi substantially benefits patients with PD. The underlying mechanism of the treatment may involve activation of GABAergic afferents in the GP.


2002 ◽  
Vol 96 (4) ◽  
pp. 666-672 ◽  
Author(s):  
Tanya Simuni ◽  
Jurg L. Jaggi ◽  
Heather Mulholland ◽  
Howard I. Hurtig ◽  
Amy Colcher ◽  
...  

Object. Palliative neurosurgery has reemerged as a valid therapy for patients with advanced Parkinson disease (PD) that is complicated by severe motor fluctuations. Despite great enthusiasm for long-term deep brain stimulation (DBS) of the subthalamic nucleus (STN), existing reports on this treatment are limited. The present study was designed to investigate the safety and efficacy of bilateral stimulation of the STN for the treatment of PD. Methods. In 12 patients with severe PD, electrodes were stereotactically implanted into the STN with the assistance of electrophysiological conformation of the target location. All patients were evaluated preoperatively during both medication-off and -on conditions, as well as postoperatively at 3, 6, and 12 months during medication-on and -off states and stimulation-on and -off conditions. Tests included assessments based on the Unified Parkinson's Disease Rating Scale (UPDRS) and timed motor tests. The stimulation effect was significant in patients who were in the medication-off state, resulting in a 47% improvement in the UPDRS Part III (Motor Examination) score at 12 months, compared with preoperative status. The benefit was stable for the duration of the follow-up period. Stimulation produced no additional benefit during the medication-on state, however, when compared with patient preoperative status. Significant improvements were made in reducing dyskinesias, fluctuations, and duration of off periods. Conclusions. This study demonstrates that DBS of the STN is an effective treatment for patients with advanced, medication-refractory PD. Deep brain stimulation of the STN produced robust improvements in motor performance in these severely disabled patients while they were in the medication-off state. Serious adverse events were common in this cohort; however, only two patients suffered permanent sequelae.


2019 ◽  
Vol 132 ◽  
pp. 368-370
Author(s):  
Somnath V. Ganapa ◽  
Margish D. Ramani ◽  
Oladotun O. Ebunlomo ◽  
Raphia K. Rahman ◽  
Yehuda Herschman ◽  
...  

2005 ◽  
Vol 102 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Hans-Holger Capelle ◽  
Richard K. Simpson ◽  
Martin Kronenbuerger ◽  
Jochen Michaelsen ◽  
Volker Tronnier ◽  
...  

Object. Deep brain stimulation (DBS) has become an accepted therapy for movement disorders such as Parkinson disease (PD) and essential tremor (ET), when these conditions are refractory to medical treatment. The presence of a cardiac pacemaker is still considered a contraindication for DBS in functional neurosurgery. The goal of this study was to evaluate the technical and clinical management of DBS for the treatment of movement disorders in elderly patients with cardiac pacemakers. Methods. Six patients with cardiac pacemakers underwent clinical and cardiac examinations to analyze the safety of DBS in the treatment of movement disorders. Four patients suffered from advanced PD and two patients had ET. The mean age of these patients at surgery was 69.5 years (range 63–79 years). The settings of the pacemakers were programmed in a manner considered to minimize the chance of interference between the two systems. There were no adverse events during surgery. Four patients underwent stimulation of the thalamic ventralis intermedius nucleus (VIM), and two patients stimulation of the subthalamic nucleus. In general, bipolar sensing was chosen for the cardiac pacemakers. In all but one patient the quadripolar DBS electrodes were programmed for bipolar stimulation. Several control electrocardiography studies, including 24-hour monitoring, did not show any interference between the two systems. At the time this paper was written the patients had been followed up for a mean of 25.3 months (range 4–48 months). Conclusions. In certain conditions it is safe for patients with cardiac pacemakers to receive DBS for treatment of concomitant movement disorders. Cardiac pacemakers should not be viewed as a general contraindication for DBS in patients with movement disorders.


2009 ◽  
Vol 110 (6) ◽  
pp. 1271-1273 ◽  
Author(s):  
Damianos E. Sakas ◽  
Ioannis G. Panourias ◽  
Efstathios J. Boviatsis ◽  
Marios S. Themistocleous ◽  
Lambis C. Stavrinou ◽  
...  

Deep brain stimulation of the globus pallidus internus has been shown to be beneficial in a small number of patients suffering from axial dystonias. However, it has not yet been reported as an effective treatment for the alleviation of idiopathic head drop. The authors describe a 49-year-old woman with idiopathic cervical dystonia (camptocephalia) who was unable to raise her head > 30° when standing or sitting; her symptoms would abate when lying down. This disabling neurological condition was treated successfully with bilateral chronic electrical stimulation of the globus pallidus internus.


2010 ◽  
Vol 113 (3) ◽  
pp. 634-638 ◽  
Author(s):  
Diana Apetauerova ◽  
Clemens M. Schirmer ◽  
Jay L. Shils ◽  
Janet Zani ◽  
Jeffrey E. Arle

The authors report the cases of 2 young male patients (aged 16 and 26 years) with dystonic cerebral palsy of unknown origin, who developed status dystonicus, an acute and persistent combination of generalized dystonia and chorea. Both patients developed status dystonicus after undergoing general anesthesia, and in 1 case, after administration of metoclopramide. In attempting to control this acute hyperkinetic movement disorder, multiple medication trials failed in both cases and patients required prolonged intubation and sedation with propofol. Bilateral deep brain stimulation of the globus pallidus internus (4 and 2 months after the onset of symptoms in the first and second case, respectively) produced immediate resolution of the hyperkinetic movement disorder in each case. Deep brain stimulation provided persistent suppression of the dystonic movement potential after a follow-up of 30 and 34 months, respectively, as demonstrated by the reemergence of severe dystonia during the end of battery life of the implantable pulse generators that was readily controlled by exchange of the generators in each case.


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