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1.
Ann Neurol ; 91(5): 585-601, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35148020

RESUMEN

OBJECTIVE: Deep brain stimulation (DBS) of the thalamic ventral intermediate nucleus (VIM) effectively suppresses arm tremor. Uncontrolled studies suggest the posterior subthalamic area (PSA) may be superior. We compared the intra-individual efficacy of VIM- versus PSA-DBS on tremor suppression and arm function. METHODS: We performed a randomized, double-blind, crossover trial at Oslo University Hospital in patients (18-80 years) with isolated or combined action tremor affecting at least one arm. Four-contact DBS leads were implanted (bi- or unilaterally) with a trajectory to cover the VIM (upper two contacts) and PSA (lower two contacts). Patients were randomized (1:1 ratio) post-surgery to: Group 1, VIM-stimulation months 0-3 (period 1), then PSA-stimulation months 4-6 (period 2); Group 2, PSA-stimulation first, then VIM-stimulation. Primary endpoint was the difference in improvement from baseline to the end of the VIM- versus PSA-period in the sum of the dominant arm tremor scores of the Fahn-Tolosa-Marin Tremor Rating Scale (FTMTRS), items 5/6 + 10-14. RESULTS: Forty-five patients were randomized to Group 1 (n = 23) or 2 (n = 22). In the primary endpoint per-protocol analysis (mixed model, n = 40), mean difference in the sum FTMTRS score improvement for the dominant arm was -2.65 points (95% CI -4.33 to -0.97; p = 0.002). The difference in favour of PSA stimulation was highly significant in period 2, but not period 1. INTERPRETATION: Our randomized trial demonstrated that PSA stimulation provided superior tremor suppression compared with VIM stimulation. A period effect reducing tremor for up to three months in both groups was most likely attributed to a post-surgery stun effect. ANN NEUROL 2022;91:585-601.


Asunto(s)
Estimulación Encefálica Profunda , Temblor Esencial , Núcleo Subtalámico , Estimulación Encefálica Profunda/métodos , Temblor Esencial/terapia , Humanos , Masculino , Antígeno Prostático Específico , Núcleo Subtalámico/fisiología , Resultado del Tratamiento , Temblor/terapia
2.
Tidsskr Nor Laegeforen ; 140(14)2020 10 13.
Artículo en Inglés, Noruego | MEDLINE | ID: mdl-33070587

RESUMEN

BACKGROUND/CASE PRESENTATION: A man in his fifties with advanced Parkinson´s disease was admitted with increasing motor fluctuations including dyskinesias, as well as hallucinations and delusions. After reduction of oral dopaminergic treatment, the dyskinesias improved, but the psychotic symptoms persisted. They were perceived as levodopa-induced, despite concurrent prominent bradykinetic-rigid symptoms. Dopaminergic treatment was therefore discontinued. He subsequently developed hyperthermia, severe generalised rigidity and akinesia, and autonomic instability. Parkinsonism-hyperpyrexia syndrome was diagnosed, and continuous intraduodenal levodopa/carbidopa infusion was initiated. Despite this, he had several episodes of respiratory distress requiring mechanical ventilation, as well as bradycardia and a single asystole. Although motor and autonomic dysfunction slowly improved, severe akinetic-rigid and neuropsychiatric symptoms persisted, with poor response to increased levodopa. On vital indication, electroconvulsive therapy was performed with clear improvement of mobility and mental state. A hip fracture requiring surgery necessitated discontinuation of ECT, which failed to show equivalent effect when resumed. His condition was considered terminal and all active treatment ceased, resulting in death a few weeks later. INTERPRETATION: Parkinsonism-hyperpyrexia syndrome can develop if dopaminergic treatment is reduced abruptly and excessively. Coexistence of confusion and/or psychosis and clear bradykinetic-rigid symptoms should alarm the clinician. Dopaminergic treatment should not be discontinued, but given intraduodenally. ECT can be effective if started sufficiently early and administered frequently.


Asunto(s)
Discinesias , Terapia Electroconvulsiva , Trastornos Mentales , Enfermedad de Parkinson , Antiparkinsonianos/efectos adversos , Humanos , Levodopa/efectos adversos , Masculino , Trastornos Mentales/tratamiento farmacológico , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Sueño
3.
Tidsskr Nor Laegeforen ; 138(19)2018 11 27.
Artículo en Inglés, Noruego | MEDLINE | ID: mdl-30497245

RESUMEN

BAKGRUNN: Doparesponsiv dystoni er en gruppe sykdommer som gir endrede nivåer av nevrotransmittere. Dette kan behandles med god effekt. Økt innsikt i patofysiologiske årsaksforhold har bedret forståelsen av sykdommene. KUNNSKAPSGRUNNLAG: Artikkelen bygger på 39 artikler fra et systematisk søk i databasen Medline, to nettsteder og en lærebok. RESULTATER: Doparesponsiv dystoni debuterer som oftest i barne- eller ungdomsårene og gir motoriske, kognitive, psykiatriske og/eller autonome symptomer og funn. Disse kan være uspesifikke og lett mistolkes som annen nevrologisk sykdom. Sykdommen skyldes feilkoding i ett enkelt gen og arves autosomalt recessivt eller dominant. Sykdomsgivende varianter er beskrevet fra tre ulike gener: guanosintrifosfat (GTP)-syklohydrolase-1-genet, sepiapterinreduktase-genet og tyrosinhydroksylase-genet. De sykdomsgivende variantene fører til enzymdefekt og gir tidlig debuterende dystoni, som responderer godt på levodopa. Nivåbestemmelse av pteriner, biogene monoaminer og deres metabolitter i spinalvæsken samt genetiske undersøkelser gir den eksakte diagnosen. FORTOLKNING: Dagens kunnskap baserer seg på kasuistikker og mindre pasientmaterialer. Her fremgår det at pasientgruppen har stor nytte av levodopa. Diagnostikken har blitt enklere de siste årene med nyere biokjemiske og molekylærgenetiske analysemetoder. Basert på dagens litteratur er det grunn til å tro at vi har udiagnostiserte pasienter i Norge med doparesponsiv dystoni.


Asunto(s)
Trastornos Distónicos , Adolescente , Edad de Inicio , Niño , Errores Diagnósticos , Dopaminérgicos/uso terapéutico , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/tratamiento farmacológico , Trastornos Distónicos/genética , Trastornos Distónicos/fisiopatología , Humanos , Levodopa/uso terapéutico
4.
BMC Neurol ; 14: 120, 2014 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-24903550

RESUMEN

BACKGROUND: Ventral intermediate thalamic nucleus (VIM) deep brain stimulation (DBS) is an effective treatment for tremor, but there is limited data on long-term efficacy and mortality after VIM-DBS. Here we report the analysis of patient satisfaction and mortality in all patients treated in our center 1996-2010 with VIM-DBS for essential tremor (ET). METHODS: Forty-six consecutive patients were included in this study. Medical records were reviewed, and a follow-up questionnaire was sent to all surviving patients. RESULTS: Seventy percent of all possible participants (26 patients) answered the questionnaire. Follow-up time for the responding patients was median 6.0 years (2-16). Median self-reported score on visual analogue scale of the initial postoperative effect on tremor was 8.5 (0.1-10), with a significant reduction to 7.4 (0-10) at follow-up (p = 0.001). Patients reported a median score of 10 (0-10) for overall patient satisfaction with VIM-DBS treatment. Eight patients (17%) died after median 8.9 years (0.6-15) after surgery, at median age 77.4 years (70-89). One patient (2%) committed suicide seven months after the operation. Calculated standard mortality ratio among ET patients was 1.3 (CI 0.6-2.6), similar to the general population. CONCLUSION: We found no significant increase in mortality in this cohort of VIM-DBS operated ET patients compared to the general population in Norway. The patients reported high long-term satisfaction and continuing effect of VIM-DBS on tremor even after many years. VIM-DBS therefore seems to be an effective symptomatic long-term treatment of ET. However, one patient committed suicide. Only one other suicide has previously been reported after VIM-DBS. It is therefore still unclear whether VIM-DBS increases suicide risk.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Temblor Esencial/terapia , Tálamo/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Estimulación Encefálica Profunda/efectos adversos , Estimulación Encefálica Profunda/mortalidad , Temblor Esencial/mortalidad , Temblor Esencial/psicología , Femenino , Estudios de Seguimiento , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Noruega/epidemiología , Satisfacción del Paciente , Encuestas y Cuestionarios , Análisis de Supervivencia , Sobrevivientes/psicología , Resultado del Tratamiento
5.
NPJ Digit Med ; 7(1): 160, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38890413

RESUMEN

Dystonia is a neurological movement disorder characterised by abnormal involuntary movements and postures, particularly affecting the head and neck. However, current clinical assessment methods for dystonia rely on simplified rating scales which lack the ability to capture the intricate spatiotemporal features of dystonic phenomena, hindering clinical management and limiting understanding of the underlying neurobiology. To address this, we developed a visual perceptive deep learning framework that utilizes standard clinical videos to comprehensively evaluate and quantify disease states and the impact of therapeutic interventions, specifically deep brain stimulation. This framework overcomes the limitations of traditional rating scales and offers an efficient and accurate method that is rater-independent for evaluating and monitoring dystonia patients. To evaluate the framework, we leveraged semi-standardized clinical video data collected in three retrospective, longitudinal cohort studies across seven academic centres. We extracted static head angle excursions for clinical validation and derived kinematic variables reflecting naturalistic head dynamics to predict dystonia severity, subtype, and neuromodulation effects. The framework was also applied to a fully independent cohort of generalised dystonia patients for comparison between dystonia sub-types. Computer vision-derived measurements of head angle excursions showed a strong correlation with clinically assigned scores. Across comparisons, we identified consistent kinematic features from full video assessments encoding information critical to disease severity, subtype, and effects of neural circuit interventions, independent of static head angle deviations used in scoring. Our visual perceptive machine learning framework reveals kinematic pathosignatures of dystonia, potentially augmenting clinical management, facilitating scientific translation, and informing personalized precision neurology approaches.

6.
Eur Neurol ; 69(4): 193-9, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23328107

RESUMEN

BACKGROUND: Deep brain stimulation (DBS) is highly successful in treating Parkinson's disease (PD), dystonia, and essential tremor (ET). Until recently implantable neurostimulators were nonrechargeable, battery-driven devices, with a lifetime of about 3-5 years. This relatively short duration causes problems for patients (e.g. programming and device-use limitations, unpredictable expiration, surgeries to replace depleted batteries). Additionally, these batteries (relatively large with considerable weight) may cause discomfort. To overcome these issues, the first rechargeable DBS device was introduced: smaller, lighter and intended to function for 9 years. METHODS: Of 35 patients implanted with the rechargeable device, 21 (including 8 PD, 10 dystonia, 2 ET) were followed before and 3 months after surgery and completed a systematic survey of satisfaction with the rechargeable device. RESULTS: Overall patient satisfaction was high (83.3 ± 18.3). Dystonia patients tended to have lower satisfaction values for fit and comfort of the system than PD patients. Age was significantly negatively correlated with satisfaction regarding process of battery recharging. CONCLUSIONS: Dystonia patients (generally high-energy consumption, severe problems at the DBS device end-of-life) are good, reliable candidates for a rechargeable DBS system. In PD, younger patients, without signs of dementia and good technical understanding, might have highest benefit.


Asunto(s)
Estimulación Encefálica Profunda/instrumentación , Estimulación Encefálica Profunda/métodos , Enfermedades del Sistema Nervioso/psicología , Enfermedades del Sistema Nervioso/terapia , Satisfacción del Paciente , Adolescente , Adulto , Anciano , Niño , Femenino , Encuestas Epidemiológicas , Humanos , Neuroestimuladores Implantables , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Encuestas y Cuestionarios , Resultado del Tratamiento , Adulto Joven
7.
Mov Disord Clin Pract ; 9(1): 48-59, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35005065

RESUMEN

BACKGROUND: In Parkinson's disease (PD) long-term motor outcomes of subthalamic nucleus deep brain stimulation (STN-DBS) are well documented, while comprehensive reports on non-motor outcomes are fewer and less consistent. OBJECTIVE: To report motor and non-motor symptoms after 5-years of STN-DBS. METHODS: We performed an open 5-year extension study of a randomized trial that compared intraoperative verification versus mapping of STN using microelectrode recordings. Changes from preoperative to 5-years of STN-DBS were evaluated for motor and non-motor symptoms (MDS-UPDRS I-IV), sleep disturbances (PDSS), autonomic symptoms (Scopa-Aut), quality of life (PDQ-39) and cognition through a neuropsychological test battery. We evaluated whether any differences between the two randomization groups were still present, and assessed preoperative predictors of physical dependence after 5 years of treatment using logistic regression. RESULTS: We found lasting improvement of off-medication motor symptoms (total MDS-UPDRS III, bradykinetic-rigid symptoms and tremor), on-medication tremor, motor fluctuations, and sleep disturbances, but reduced performance across all cognitive domains, except verbal memory. Reduction of verbal fluency and executive function was most pronounced the first year and may thus be more directly related to the surgery than worsening in other domains. The group mapped with multiple microelectrode recordings had more improvement of bradykinetic-rigid symptoms and of PDQ-39 bodily discomfort sub-score, but also more reduction in word fluency. Older age was the most important factor associated with physical dependence after 5 years. CONCLUSION: STN-DBS offers good long-term effects, including improved sleep, despite disease progression. STN-DBS surgery may negatively impact verbal fluency and executive function.

8.
Mov Disord ; 26(10): 1931-4, 2011 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-21656853

RESUMEN

BACKGROUND: The objective of this study was to examine the clinical outcome and mortality of long-term deep brain stimulation of the subthalamic nucleus in advanced Parkinson's disease. METHODS: We included all 144 patients (mean age, 60.3 years; mean disease duration, 11.0 years) treated in our center from 2001 to 2007. RESULTS: Twelve months after surgery, the off-medication Unified Parkinson's Disease Rating Scale motor score was reduced by a mean of 53%, and the annual increase after surgery was 3.2 points. The daily dose of dopaminergic medication was reduced by a mean of 49% and increased only marginally during follow-up. Twelve of the 144 patients died in the study period, including 2 suicides (1.4%). Survival was 97% after 3 years and 90% after 5 years. CONCLUSIONS: The study confirms the stable efficacy of long-term subthalamic stimulation in selected patients with advanced Parkinson's disease. Throughout the study the patient characteristics at time of surgery changed, with less severe disease and shorter disease duration toward the end of the study period.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Enfermedad de Parkinson/mortalidad , Enfermedad de Parkinson/terapia , Núcleo Subtalámico/fisiología , Actividades Cotidianas , Anciano , Antiparkinsonianos , Evaluación de la Discapacidad , Femenino , Humanos , Levodopa , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Estudios Retrospectivos , Análisis de Supervivencia
9.
NPJ Parkinsons Dis ; 6: 29, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33083523

RESUMEN

Parkinson's disease (PD) is a complex multisystem disorder with motor and non-motor symptoms (NMS). NMS may have an even greater impact on quality of life than motor symptoms. Subthalamic nucleus deep brain stimulation (STN-DBS) has been shown to improve motor fluctuations and quality of life, whereas the effects on different NMS have been less examined. Sleep disturbances and autonomic dysfunction are among the most prevalent NMS. We here report the efficacy of STN-DBS on sleep disturbances and autonomic dysfunction. In the parent trial, 60 patients were included in a single-center randomized prospective study, with MDS-UPDRS III and PDQ-39 as primary endpoints at 12 months of STN-DBS. Preplanned assessments at baseline and postoperatively at 3 and 12 months also included Parkinson's Disease Sleep Scale (PDSS); Scopa-Aut; and MDS-UPDRS I, II, and IV. We found that STN-DBS had a significant and lasting positive effect on overall sleep quality, nocturnal motor symptoms and restlessness, and daytime dozing. Several aspects of autonomic dysfunction were also improved at 3 months postoperatively, although at 12 months only thermoregulation (sudomotor symptoms) remained significantly improved. We could not identify preoperative factors that predicted improvement in PDSS or Scopa-Aut. There was a close relationship between improved autonomic symptoms and improved quality of life after 1 year. NMS and especially sleep and autonomic dysfunction deserve more focus to improve patient outcomes further.

10.
N Engl J Med ; 355(19): 1978-90, 2006 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-17093249

RESUMEN

BACKGROUND: Neurostimulation of the internal globus pallidus has been shown to be effective in reducing symptoms of primary dystonia. We compared this surgical treatment with sham stimulation in a randomized, controlled clinical trial. METHODS: Forty patients with primary segmental or generalized dystonia received an implanted device for deep-brain stimulation and were randomly assigned to receive either neurostimulation or sham stimulation for 3 months. The primary end point was the change from baseline to 3 months in the severity of symptoms, according to the movement subscore on the Burke-Fahn-Marsden Dystonia Rating Scale (range, 0 to 120, with higher scores indicating greater impairment). Two investigators who were unaware of treatment status assessed the severity of dystonia by reviewing videotaped sessions. Subsequently, all patients received open-label neurostimulation; blinded assessment was repeated after 6 months of active treatment. RESULTS: Three months after randomization, the change from baseline in the mean (+/-SD) movement score was significantly greater in the neurostimulation group (-15.8+/-14.1 points) than in the sham-stimulation group (-1.4+/-3.8 points, P<0.001). During the open-label extension period, this improvement was sustained among patients originally assigned to the neurostimulation group, and patients in the sham-stimulation group had a similar benefit when they switched to active treatment. The combined analysis of the entire cohort after 6 months of neurostimulation revealed substantial improvement in all movement symptoms (except speech and swallowing), the level of disability, and quality of life, as compared with baseline scores. A total of 22 adverse events occurred in 19 patients, including 4 infections at the stimulator site and 1 lead dislodgment. The most frequent adverse event was dysarthria. CONCLUSIONS: Bilateral pallidal neurostimulation for 3 months was more effective than sham stimulation in patients with primary generalized or segmental dystonia. (ClinicalTrials.gov number, NCT00142259 [ClinicalTrials.gov].).


Asunto(s)
Estimulación Encefálica Profunda , Trastornos Distónicos/terapia , Adulto , Estimulación Encefálica Profunda/efectos adversos , Método Doble Ciego , Trastornos Distónicos/clasificación , Trastornos Distónicos/fisiopatología , Femenino , Globo Pálido , Humanos , Masculino , Índice de Severidad de la Enfermedad
11.
Neurol Res Pract ; 1: 25, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-33324891

RESUMEN

BACKGROUND: Programming deep brain stimulation in dystonia is difficult because of the delayed benefits and absence of evidence-based guidelines. Therefore, we evaluated the efficacy of a programming algorithm applied in a double-blind, sham-controlled multicenter study of pallidal deep brain stimulation in dystonia. METHODS: A standardized monopolar review to identify the contact with the best acute antidystonic effect was applied in 40 patients, who were then programmed 0.5 V below the adverse effect threshold and maintained on these settings for at least 3 months, if tolerated. If no acute effects were observed, contact selection was based on adverse effects or anatomical criteria. Three-year follow-up data was available for 31 patients, and five-year data for 32 patients. The efficacy of the algorithm was based on changes in motor scores, adverse events, and the need for reprogramming. RESULTS: The mean (±standard deviation) dystonia motor score decreased by 73 ± 24% at 3 years and 63 ± 38% at 5 years for contacts that exhibited acute improvement of dystonia (n = 17) during the monopolar review. Contacts without acute benefit improved by 58 ± 30% at 3 years (n = 63) and 53 ± 31% at 5 years (n = 59). Interestingly, acute worsening or induction of dystonia/dyskinesia (n = 9) correlated significantly with improvement after 3 years, but not 5 years. CONCLUSIONS: Monopolar review helped to detect the best therapeutic contact in approximately 30% of patients exhibiting acute modulation of dystonic symptoms. Acute improvement, as well as worsening of dystonia, predicted a good long-term outcome, while induction of phosphenes did not correlate with outcome. TRIAL REGISTRATION: ClinicalTrials.gov NCT00142259.

12.
Tidsskr Nor Laegeforen ; 128(19): 2202-5, 2008 Oct 09.
Artículo en Noruego | MEDLINE | ID: mdl-18846145

RESUMEN

BACKGROUND: Cervical dystonia is a focal dystonia of the neck muscles, leading to involuntary head movement, abnormal postures and pain. As effective treatment is available, all doctors should be able to recognize this potentially disabling disorder. MATERIAL AND METHODS: The manuscript is based on literature retrieved from searches in Medline databases, and the author's own clinical experience and research. RESULTS AND INTERPRETATION: Diagnosis is based on identification of typical symptoms and signs. Cervical dystonia is most often primary, with unknown cause, but can also be secondary to other neurological disease. Dystonic movements are typically spasmodic and repeated in a stereotype pattern. From onset they are often mild and intermittent, but become constant with progression. Turning of the head (torticollis) is most frequent, but lateroflexion (latero-), extension (retro-) and flexion (anterocollis) of the neck are also seen. The range of voluntary neck movement is often reduced. Botulinum toxin injected into the affected neck muscles has proven to be efficient and safe, and is the treatment of choice. Studies show that the majority of patients have a good efficacy and health-related quality of life also in the long-term. The minority of patients with unsatisfactory treatment response should be evaluated for pallidal deep brain stimulation.


Asunto(s)
Tortícolis , Toxinas Botulínicas/uso terapéutico , Toxinas Botulínicas Tipo A/uso terapéutico , Diagnóstico Diferencial , Movimientos de la Cabeza , Humanos , Fármacos Neuromusculares/uso terapéutico , Tortícolis/diagnóstico , Tortícolis/fisiopatología , Tortícolis/terapia , Resultado del Tratamiento
13.
Tidsskr Nor Laegeforen ; 128(17): 1972-6, 2008 Sep 11.
Artículo en Noruego | MEDLINE | ID: mdl-18787575

RESUMEN

BACKGROUND: Deep brain stimulation is an established symptomatic treatment of movement disorders such as Parkinson's disease, tremor conditions and dystonia when medical treatment fails. We here present a review of indications and results for this treatment. We also present data om the activity related to patients with Parkinson's disease in a representative year and data on implantations performed Rikshospitalet University Hospital in the period 1999-2007. MATERIAL AND METHODS: The manuscript is based on non-systematic searches in PubMed, clinical experience, and internal statistics on implantations and clinical visits carried out at our centre. RESULTS AND INTERPRETATION: 243 procedures were performed in our clinic in the period; 187 for Parkinson's disease, 37 for tremor and 19 for dystonia. The vast majority of patients have been implanted with bilateral electrodes, and the targets were the subthalamic nucleus, the thalamus and the internal segment of globus pallidus. Studies have demonstrated that deep brain stimulation is an effective treatment of selected patients with Parkinson's disease, tremors and primary dystonia. Many of these patients have no other efficient treatment options. Patients should be referred for preoperative assessment when symptoms of their movement disorder can no longer be treated sufficiently with medical therapies and when their quality of life is impaired. A broad and careful evaluation of patients' symptoms and findings is important for correct patient selection for this treatment.


Asunto(s)
Estimulación Encefálica Profunda , Trastornos del Movimiento/terapia , Estimulación Encefálica Profunda/métodos , Distonía/terapia , Globo Pálido/fisiopatología , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/fisiopatología , Enfermedad de Parkinson/terapia , Selección de Paciente , Núcleo Subtalámico/fisiopatología , Tálamo/fisiopatología , Resultado del Tratamiento , Temblor/terapia
14.
Mov Disord Clin Pract ; 5(3): 296-305, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30009214

RESUMEN

BACKGROUND: Subthalamic nucleus deep brain stimulation improves motor symptoms and fluctuations in advanced Parkinson's disease, but the degree of clinical improvement depends on accurate anatomical electrode placement. Methods used to localize the sensory-motor part of the nucleus vary substantially. Using microelectrode recordings, at least three inserted microelectrodes are needed to obtain a three-dimensional map. Therefore, multiple simultaneously inserted microelectrodes should provide better guidance than single sequential microelectrodes. We aimed to compare the use of multiple simultaneous versus single sequential microelectrode recordings on efficacy and safety of subthalamic nucleus stimulation. METHODS: Sixty patients were included in this double-blind, randomized study, 30 in each group. Primary outcome measures were the difference from baseline to 12 months in the MDS-UPDRS motor score (part III) in the off-medication state and quality of life using the Parkinson's Disease Questionnaire-39 (PDQ-39) scores. RESULTS: The mean reduction of the MDS-UPDRS III off score was 35 (SD 12) in the group investigated with multiple simultaneous microelectrodes compared to 26 (SD 10) in the single sequential microelectrode group (p = 0.004). The PDQ-39 Summary Index did not differ between the groups, but the domain scores activities of daily living and bodily discomfort improved significantly more in the multiple microelectrodes group. The frequency of serious adverse events did not differ significantly. CONCLUSIONS: After 12 months of subthalamic nucleus stimulation, the multiple microelectrodes group had a significantly greater improvement both in MDS-UPDRS III off score and in two PDQ-39 domains. Our results may support the use of multiple simultaneous microelectrode recordings. TRIAL REGISTRATION: http://ClinicalTrials.gov Identifier: NCT00855621 (first received March 3, 2009).

15.
J Neurodev Disord ; 10(1): 17, 2018 05 22.
Artículo en Inglés | MEDLINE | ID: mdl-29788902

RESUMEN

BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally. CASE PRESENTATION: A 19-year-old girl with congenital mild dysmorphic facial features, cochlear implants for infant-onset deafness, and mild cognitive and emotional disability, presented with an adolescent-onset, severe generalized dystonia. Brain MRI and multiple single gene sequencing were inconclusive. Due to life-threatening dystonia, we implanted a neurostimulation device, targeting the postero-ventral internal pallidum bilaterally. The Burke-Fahn-Marsden Dystonia Rating Scale motor/disability scores improved from 87/25 to 21/13 at 2.5 months postoperatively, 26/14 at 3 years, and 30/14 at 4 years. Subsequent whole exome sequencing identified heterozygosity for the ACTB p.Arg183Trp variant. Brain imaging included 123I-ioflupane single photon emission computed tomography (Dopamine Transporter-SPECT), SPECT with 123I-epidepride (binds to dopamine type 2-receptors) and 18 Fluoro-Deoxy-Glucose (FDG)-PET. Both Epidepride-SPECT and FDG-PET showed reduced tracer uptake in the striatum bilaterally, particularly in the putamen. DaT-SPECT was slightly abnormal. CONCLUSIONS: In this patient with dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity, unprecedented brain imaging findings strongly indicate striatal neuronal/dopaminergic dysfunction as the underlying cause of the dystonia. Pallidal stimulation provided a substantial improvement of the severe generalized dystonia, which is largely sustained at 4-year follow-up, and we advise this treatment to be considered in such patients. We hypothesize that the pleiotropic manifestations of the dystonia-deafness syndrome caused by this mutation derive from diverse developmental functions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). The temporal differences in developmental onset are likely due to varying degrees of susceptibility and of compensatory upregulation of other actin variants in the affected structures.


Asunto(s)
Actinas/genética , Encéfalo/fisiopatología , Trastornos Sordoceguera , Dopamina/metabolismo , Distonía , Globo Pálido/fisiopatología , Discapacidad Intelectual , Atrofia Óptica , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Encéfalo/patología , Trastornos Sordoceguera/genética , Trastornos Sordoceguera/metabolismo , Trastornos Sordoceguera/patología , Trastornos Sordoceguera/terapia , Estimulación Encefálica Profunda , Distonía/genética , Distonía/metabolismo , Distonía/patología , Distonía/terapia , Femenino , Heterocigoto , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/metabolismo , Discapacidad Intelectual/patología , Discapacidad Intelectual/terapia , Imagen por Resonancia Magnética , Atrofia Óptica/genética , Atrofia Óptica/metabolismo , Atrofia Óptica/patología , Atrofia Óptica/terapia , Tomografía de Emisión de Positrones , Resultado del Tratamiento , Adulto Joven
16.
J Neurol ; 262(10): 2201-13, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25877834

RESUMEN

Cervical dystonia is a neurological movement disorder causing abnormal posture of the head. It may be accompanied by involuntary movements which are sometimes tremulous. The condition has marked effects on patients' self-image, and adversely affects quality of life, social relationships and employment. Botulinum neurotoxin (BoNT) is the treatment of choice for CD and its efficacy and safety have been extensively studied in clinical trials. However, current guidelines do not provide enough practical information for physicians who wish to use this valuable treatment in a real-life setting. In addition, patients and physicians may have different perceptions of what successful treatment outcomes should be. Consequently, an international group of expert neurologists, experienced in BoNT treatment, met to review the literature and pool their extensive clinical experience to give practical guidance about treatment of CD with BoNT. Eight topic headings were considered: the place of BoNT within CD treatment options; patient perspectives and desires for treatment; assessment and goal setting; starting treatment with BoNT-A; follow-up sessions; management of side effects; management of non-response; switching between different BoNT products. One rapporteur took responsibility for summarising the current literature for each topic, while the consensus statements were developed by the entire expert group. These statements are presented here along with a discussion of the background information.


Asunto(s)
Toxinas Botulínicas/uso terapéutico , Consenso , Neurotoxinas/uso terapéutico , Guías de Práctica Clínica como Asunto , Tortícolis/tratamiento farmacológico , Humanos
17.
Parkinsons Dis ; 2015: 461453, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26167329

RESUMEN

Objective. Studies on the effect of subthalamic deep brain stimulation (STN-DBS) on executive functioning in Parkinson's disease (PD) are still controversial. In this study we compared self-reported daily executive functioning in PD patients before and after three months of STN-DBS. We also examined whether executive functioning in everyday life was associated with motor symptoms, apathy, and psychiatric symptoms. Method. 40 PD patients were examined with the Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A), the Symptom Checklist 90-Revised (SCL-90-R), and the Apathy Evaluation Scale (AES-S). Results. PD patients reported significant improvement in daily life executive functioning after 3 months of STN-DBS. Anxiety scores significantly declined, while other psychiatric symptoms remained unchanged. The improvement of self-reported executive functioning did not correlate with motor improvement after STN-DBS. Apathy scores remained unchanged after surgery. Only preoperative depressed mood had predictive value to the improvement of executive function and appears to prevent potentially favorable outcomes from STN-DBS on some aspects of executive function. Conclusion. PD patients being screened for STN-DBS surgery should be evaluated with regard to self-reported executive functioning. Depressive symptoms in presurgical PD patients should be treated. Complementary information about daily life executive functioning in PD patients might enhance further treatment planning of STN-DBS.

18.
Parkinsons Dis ; 2015: 490507, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25705545

RESUMEN

Objectives. Deep brain stimulation of the subthalamic nucleus (STN-DBS) is a recognized therapy that improves motor symptoms in advanced Parkinson's disease (PD). However, little is known about its impact on personality. To address this topic, we have assessed personality traits before and after STN-DBS in PD patients. Methods. Forty patients with advanced PD were assessed with the Temperament and Character Inventory (TCI): the Urgency, Premeditation, Perseverance, Sensation Seeking impulsive behaviour scale (UPPS), and the Neuroticism and Lie subscales of the Eysenck Personality Questionnaire (EPQ-N, EPQ-L) before surgery and after three months of STN-DBS. Collateral information obtained from the UPPS was also reported. Results. Despite improvement in motor function and reduction in dopaminergic dosage patients reported lower score on the TCI Persistence and Self-Transcendence scales, after three months of STN-DBS, compared to baseline (P = 0.006; P = 0.024). Relatives reported significantly increased scores on the UPPS Lack of Premeditation scale at follow-up (P = 0.027). Conclusion. STN-DBS in PD patients is associated with personality changes in the direction of increased impulsivity.

19.
PLoS One ; 9(8): e105288, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25122445

RESUMEN

BACKGROUND/AIMS: Deep brain stimulation (DBS) implant infection is a feared complication, as it is difficult to manage and leads to increased patient morbidity. We wanted to assess the frequency and possible risk factors of DBS related infections at our centre. In the purpose of evaluating treatment options, we also analyzed treatment, and the clinical and microbiological characteristics of the infections. METHODS: Electronic medical records of all patients undergoing DBS surgery at our centre, from 2001 through 2010, were retrospectively reviewed. RESULTS: Of the 588 procedures performed 33 (5.6%) led to an infection. Some patients underwent several procedures, thus 32 out of totally 368 patients (8.7%), and 19 out of 285 patients (6.7%) who received primary lead implantation, developed an infection. Most infections (52%) developed within the first month and 79% within three months. In the majority of the infections (79%) hardware removal was performed. Staphylococcus aureus infections were the most frequent (36%), and more likely to have earlier onset, pus formation, a more aggressive development and lead to hardware removal. No risk factors were identified. CONCLUSIONS: Our results indicate that infections with more severe symptoms and growth of staphylococcus aureus should be treated with local hardware removal and antibiotic therapy. In other infections, an initial trial of antibiotic treatment could be considered. New knowledge about the microbiology of DBS related infections may lead to more effective antimicrobial treatment.


Asunto(s)
Estimulación Encefálica Profunda/efectos adversos , Infección de la Herida Quirúrgica/epidemiología , Infección de la Herida Quirúrgica/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Estimulación Encefálica Profunda/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Infección de la Herida Quirúrgica/diagnóstico , Infección de la Herida Quirúrgica/terapia , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
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