Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 12 de 12
Filtrar
1.
Neuromodulation ; 24(2): 392-399, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33389771

RESUMO

BACKGROUND: Different deep brain stimulation (DBS) targets have been suggested as treatment for patients with pharmacologically refractory Holmes tremor (HT). We report the clinical and quality of life (QoL) long-term (up to nine years) outcome in four patients with HT treated with DBS (in thalamic ventral intermediate nucleus-VIM or in dentato-rubro-thalamic tract-DRTT). MATERIALS AND METHODS: The patients underwent routine clinical evaluations before and after DBS (typically annually). Tremor severity and activities of daily living (ADL) were quantified by the Fahn-Tolosa-Marin Tremor-Rating-Scale (FTMTRS). QoL was assessed using the RAND SF-36-item Health Survey (RAND SF-36). In addition, we computed, in all four patients, the VTA based on the best stimulation settings using heuristic approaches included in the open source toolbox LEAD-DBS. RESULTS: In all patients, tremor and ADL improved significantly at one-year post-DBS follow-up (34-61% improvement in FTMTRS total score compared to baseline). In three out of four patients, the improvement of tremor was sustained no longer than two to three years and only in one patient was sustained up to nine years. In this patient, the largest intersection between VTA and DBS target has been observed. Scores for ADL deteriorated over the course of time, reaching worse levels compared to baseline already during the three-year post-DBS follow-up, in three out of four patients. Physical and mental health component scores of RAND SF-36 had very different outcome between patients and follow-ups and were not associated with tremor-related outcomes. CONCLUSIONS: The benefits of DBS in HT might not be always long lasting. Although QoL slightly improved, this change seemed to be independent of the motor outcome following DBS. The estimation of DBS target and VTA proximity could be a useful tool for DBS clinicians in order to facilitate the DBS programming process and optimize DBS treatment.


Assuntos
Estimulação Encefálica Profunda , Tremor Essencial , Atividades Cotidianas , Tremor Essencial/terapia , Humanos , Neuroimagem , Qualidade de Vida , Resultado do Tratamento , Tremor/diagnóstico por imagem , Tremor/terapia
2.
BMC Neurol ; 17(1): 137, 2017 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-28720127

RESUMO

BACKGROUND: Parasomnia overlap disorder (POD) is a distinct parasomnia and characterized by concomitant manifestation of rapid-eye-movement (REM)- and non-REM (NREM)-parasomnias. Although not uncommon among patients with Parkinson's disease, POD is often under-investigated. CASE PRESENTATION: This is the first report of patients with PD and features of POD that underwent deep brain stimulation. Our patients exhibited different outcomes of POD features after subthalamic deep brain stimulation. CONCLUSIONS: We expect that the reporting of these first patients will open the discussion about the need for more detailed and broad-spectrum assessments regarding parasomnias in PD patients that undergo deep brain stimulation. The implications of our observations are both clinical and neurobiological.


Assuntos
Estimulação Encefálica Profunda , Parassonias/diagnóstico , Doença de Parkinson/complicações , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Mov Disord ; 30(5): 655-61, 2015 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-25820811

RESUMO

Gilles de la Tourette syndrome is a neurodevelopmental disorder characterized by the presence of motor and vocal tics. We hypothesized that patients with this syndrome would present an aberrant pattern of cortical formation, which could potentially reflect global alterations of brain development. Using 3 Tesla structural neuroimaging, we compared sulcal depth, opening, and length and thickness of sulcal gray matter in 52 adult patients and 52 matched controls. Cortical sulci were automatically reconstructed and identified over the whole brain, using BrainVisa software. We focused on frontal, parietal, and temporal cortical regions, in which abnormal structure and functional activity were identified in previous neuroimaging studies. Partial correlation analysis with age, sex, and treatment as covariables of noninterest was performed amongst relevant clinical and neuroimaging variables in patients. Patients with Gilles de la Tourette syndrome showed lower depth and reduced thickness of gray matter in the pre- and post-central as well as superior, inferior, and internal frontal sulci. In patients with associated obsessive-compulsive disorder, additional structural changes were found in temporal, insular, and olfactory sulci. Crucially, severity of tics and of obsessive-compulsive disorder measured by Yale Global Tic severity scale and Yale-Brown Obsessive-Compulsive scale, respectively, correlated with structural sulcal changes in sensorimotor, temporal, dorsolateral prefrontal, and middle cingulate cortical areas. Patients with Gilles de la Tourette syndrome displayed an abnormal structural pattern of cortical sulci, which correlated with severity of clinical symptoms. Our results provide further evidence of abnormal brain development in GTS.


Assuntos
Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Síndrome de Tourette/patologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Distribuição Normal , Índice de Gravidade de Doença , Adulto Jovem
4.
J Neural Transm (Vienna) ; 120(4): 665-71, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23232665

RESUMO

Impulse control disorders (ICD) have been recognised in Parkinson's disease (PD) as adverse effects of dopamine replacement therapy, particularly with dopamine agonists. Although virtually all PD patients are treated with dopaminergic drugs, only a minority will develop hyperdopaminergic states, suggesting predisposing and/or protecting factors. The age at onset, the sex and the dose or type of dopaminergic drugs have been identified as clinical predictive factors. Recent genetic studies have investigated associations between ICD and polymorphisms of genes involved in the dopamine metabolism pathway (COMT, DAT), dopamine receptors (DRD1, DRD2, DRD3, DRD4), serotonin receptors and its transporter (HTR2A, 5HTT), and glutamate receptors (GRIN2B). Although validation in larger and independent cohorts is needed, the results from these studies give us some insights into the pathophysiology of hyperdopaminergic states and may be useful, at term, in personalising antiparkinsonian treatment in clinical practice.


Assuntos
Transtornos Disruptivos, de Controle do Impulso e da Conduta/genética , Doença de Parkinson/complicações , Receptores Dopaminérgicos/genética , Receptores de Serotonina/genética , Catecol O-Metiltransferase/genética , Transtornos Disruptivos, de Controle do Impulso e da Conduta/complicações , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Frequência do Gene , Humanos , Polimorfismo Genético , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
5.
Mov Disord Clin Pract ; 10(3): 434-439, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36949800

RESUMO

Background: Directional deep brain stimulation (DBS) allows for steering of the stimulation field, but extensive and time-consuming testing of all segmented contacts is necessary to identify the possible benefit of steering. It is therefore important to determine under which circumstances directional current steering is advantageous. Methods: Fifty two Parkinson's disease patients implanted in the STN with a directional DBS system underwent a standardized monopolar programming session 5 to 9 months after implantation. Individual contacts were tested for a potential advantage of directional stimulation. Results were used to build a prediction model for the selection of ring levels that would benefit from directional stimulation. Results: On average, there was no significant difference in therapeutic window between ring-level contact and best directional contact. However, according to our standardized protocol, 35% of the contacts and 66% of patients had a larger therapeutic window under directional stimulation compared to ring-mode. The segmented contacts warranting directional current steering could be predicted with a sensitivity of 79% and a specificity of 57%. Conclusion: To reduce time required for DBS programming, we recommend additional directional contact testing initially only on ring-level contacts with a therapeutic window of less than 2.0 mA.

6.
Mov Disord Clin Pract ; 8(3): 469-473, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33816681

RESUMO

BACKGROUND: Impulse control disorders (ICDs) are a frequent side effect of dopamine replacement therapy (DRT) in Parkinson's disease (PD). Reckless generosity might expand the spectrum of known ICDs. CASES: Over 18 months, we encountered three PD patients exhibiting reckless generosity under DRT, leading to disastrous financial and social consequences. LITERATURE REVIEW: Except for another case series describing reckless generosity in three PD patients, only one study has examined generosity in PD patients; with findings suggesting that PD patients with ICDs are less sensitive to the aversive aspects of the lack of reciprocation in social settings. Studies with healthy individuals suggest that increased availability of dopamine might reduce social discounting and promote egalitarian behavior, and thereby increase generous behavior towards strangers. Genetic studies show that polymorphisms in dopamine D4 receptors influence generous behavior. CONCLUSIONS: Reckless generosity in PD patients with DRT might be underreported and should therefore be carefully be screened for by clinicians. A potential mechanism underlying this ICD-related behavior might be a sensitization of the mesolimbic and mesocortical dopaminergic system, leading to reduced social discounting and maladaptive reward-learning. Further research is needed to investigate the prevalence and underlying mechanisms of reckless generosity in PD patients.

7.
NPJ Parkinsons Dis ; 7(1): 77, 2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34489472

RESUMO

Although deep brain stimulation (DBS) of the globus pallidus internus (GPi) and the subthalamic nucleus (STN) has become an established treatment for Parkinson's disease (PD), a recent meta-analysis of outcomes is lacking. To address this gap, we performed a meta-analysis of bilateral STN- and GPi-DBS studies published from 1990-08/2019. Studies with ≥10 subjects reporting Unified Parkinson's Disease Rating Scale (UPDRS) III motor scores at baseline and 6-12 months follow-up were included. Several outcome variables were analyzed and adverse events (AE) were summarized. 39 STN studies (2035 subjects) and 5 GPi studies (292 subjects) were eligible. UPDRS-II score after surgery in the stimulation-ON/medication-OFF state compared to preoperative medication-OFF state improved by 47% with STN-DBS and 18.5% with GPi-DBS. UPDRS-III score improved by 50.5% with STN-DBS and 29.8% with GPi-DBS. STN-DBS improved dyskinesia by 64%, daily OFF time by 69.1%, and quality of life measured by PDQ-39 by 22.2%, while Levodopa Equivalent Daily Dose (LEDD) was reduced by 50.0%. For GPi-DBS information regarding dyskinesia, OFF time, PDQ-39 and LEDD was insufficient for further analysis. Correlation analysis showed that preoperative L-dopa responsiveness was highly predictive of the STN-DBS motor outcome across all studies. Most common surgery-related AE were infection (5.1%) and intracranial hemorrhage (3.1%). Despite a series of technological advances, outcomes of modern surgery are still comparable with those of the early days of DBS. Recent changes in target selection with a preference of GPi in elderly patients with cognitive deficits and more psychiatric comorbidities require more published data for validation.

8.
J Neurol ; 265(3): 678-687, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29392455

RESUMO

INTRODUCTION: The Motor tic, Obsessions and compulsions, Vocal tic Evaluation Survey (MOVES) is a self-report scale suggested as a severity scale for tics and related sensory phenomena observed in Gilles de la Tourette syndrome (GTS) and recommended as a screening instrument by the Committee on Rating Scale Development of the International Parkinson's Disease and Movement Disorder Society. OBJECTIVES: To cross-culturally adapt a French version of the MOVES and to evaluate its psychometric properties. METHODS: After the cross-cultural adaptation of the MOVES, we assessed its psychometric properties in 53 patients aged 12-16 years and in 54 patients aged 16 years and above: reliability and construct validity (relationships between items and scales), internal consistency and concurrent validity with the Yale Global Tic Severity Scale (YGTSS) and the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS) or the auto-Yale-Brown scale. RESULTS: The results showed very good acceptability with response rates greater than 92%, good internal consistency (Cronbach's alpha ranging from 0.62 and 0.89) and good test-retest reliability (ICCs ranging from 0.59 to 0.91). Concurrent validity with the YGTSS, CY-BOCS and auto-Yale-Brown scales showed strong expected correlations. The cut-off points tested for diagnostic performance gave satisfactory values of sensitivity, specificity, and positive and negative predictive values. DISCUSSION: Our study provides evidence of the good psychometric properties of the French version of the MOVES. The cross-cultural adaptation of this specific instrument will allow investigators to include French-speaking persons with GTS aged 12 years and over in national and international collaboration research projects.


Assuntos
Comportamento Compulsivo/diagnóstico , Comportamento Obsessivo/diagnóstico , Autorrelato , Índice de Gravidade de Doença , Tiques/diagnóstico , Síndrome de Tourette/diagnóstico , Adolescente , Adulto , Criança , Comportamento Compulsivo/tratamento farmacológico , Comparação Transcultural , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Comportamento Obsessivo/tratamento farmacológico , Psicometria , Psicotrópicos/uso terapêutico , Reprodutibilidade dos Testes , Tiques/tratamento farmacológico , Síndrome de Tourette/tratamento farmacológico , Tradução , Adulto Jovem
9.
Front Neurol ; 9: 782, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30319524

RESUMO

Objective: Differential diagnosis of neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) or mimics can be challenging, especially in patients with atypical presentations and negative serostatus for aquaporin-4 antibodies (AQP4-Ab). This brief research report describes magnetic resonance imaging (MRI) findings focusing on quantitative apparent diffusion coefficient (ADC) histogram analysis as a potential tool to differentiate NMOSD from MS. Methods: Longitudinal MRI data obtained during routine clinical examinations were retrospectively analyzed in a patient with histologically determined cerebral NMOSD, a patient with an acute tumefactive MS lesion, and a patient with ischemic stroke. Histogram analyses of ADC maps were evaluated. Results: A patient diagnosed with MS experienced a severe rebound after fingolimod withdrawal and a single daclizumab injection. Cerebral NMOSD manifestation was confirmed by brain biopsy. However, the patient did not fulfill consensus criteria for NMOSD and was AQP4-Ab negative. Comparison of ADC histogram analyses of this patient with those from a patient with MS and one with ischemic stroke revealed differential ADC characteristics: namely a more pronounced and prolonged ADC leftward shift in inflammatory than in ischemic pathology, even more accentuated in NMOSD versus MS. Conclusion: ADC map histograms and ADC threshold values for different conditions may be useful for differentiation of large inflammatory brain lesions and further studies are merited.

11.
BMC Res Notes ; 8: 351, 2015 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-26268814

RESUMO

BACKGROUND: Neurogenic thoracic outlet syndrome is an underestimated cause of brachial weakness and pain. The subclavius posticus muscle (SPM) is an aberrant muscle originating from the medial aspect of the first rib reaching to superior border of the scapula, which may cause, depending on its activation, dynamic compression of the brachial plexus. CASE PRESENTATION: In the present study, we report about a 32-year-old male caucasian patient with weakness in radial deviation of his left hand. An isolated macrodactyly of his left middle finger had been operated twice. Electroneurography showed a carpal-tunnel-syndrome (CTS) on the left side. MRI of the brachial plexus revealed an additional muscle in the costoclavicular space, identified as SPM. To our knowledge, this is the second case report of a neurogenic thoracic outlet syndrome due to SPM, and the first case described with isolated macrodactyly and CTS in the same patient. CONCLUSION: If complaints about hand weakness are only reported in cases of distinct hand positions, a dynamic compression of the brachial plexus by SPM may be the cause. A neurogenic thoracic outlet syndrome may facilitate the development of CTS.


Assuntos
Neuropatias do Plexo Braquial/diagnóstico , Plexo Braquial/patologia , Síndrome do Desfiladeiro Torácico/diagnóstico , Adulto , Neuropatias do Plexo Braquial/patologia , Síndrome do Túnel Carpal/diagnóstico , Mãos/fisiopatologia , Força da Mão , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/patologia , Dor , Síndrome do Desfiladeiro Torácico/fisiopatologia
12.
Parkinsonism Relat Disord ; 21(5): 471-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25753458

RESUMO

BACKGROUND: Catecholamine-O-methyl-tranferase (COMT) initiates dopamine degradation. Its activity is mainly determined by a single nucleotide polymorphism in the COMT gene (Val158Met, rs4680) separating high (Val/Val, COMT(HH)), intermediate (Val/Met, COMT(HL)) and low metabolizers (Met/Met, COMT(LL)). We investigated dopaminergic denervation in the striatum in PD patients according to COMT rs4680 genotype. METHODS: Patients with idiopathic PD were assessed for motor severity (UPDRS-III rating scale in OFF-state), dopaminergic denervation using [123I]-FP-CIT SPECT imaging, and genotyped for the COMT rs4680 enzyme. [123I]-FP-CIT binding potential (BP) for each voxel was defined by the ratio of tracer-binding in the region of interest (striatum, caudate nucleus and putamen) to that in a region of non-specific activity. Genotyping was performed using TaqMan(®) SNP genotyping assay. We used a regression model to evaluate the effect of COMT genotype on the BP in the striatum and its sub-regions. RESULTS: Genotype distribution was: 11 (27.5%) COMT(HH), 26 (65%) COMT(HL) and 3 (7.5%) COMT(LL). There were no significant differences in disease severity, treatments, or motor scores between genotypes. When adjusted to clinical severity, gender and age, low and intermediate metabolizers showed significantly higher rates of striatal denervation (COMT(HL+LL) BP = 1.32 ± 0.04) than high metabolizers (COMT(HH), BP = 1.6 ± 0.08; F(1.34) = 9.0, p = 0.005). Striatal sub-regions showed similar results. BP and UPDRS-III motor scores (r = 0.44, p = 0.04) (p < 0.001) were highly correlated. There was a gender effect, but no gender-genotype interaction. CONCLUSIONS: Striatal denervation differs according to COMT-Val158Met polymorphism. COMT activity may play a role as a compensatory mechanism in PD motor symptoms.


Assuntos
Catecol O-Metiltransferase/genética , Neurônios Dopaminérgicos , Metionina/genética , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único/genética , Valina/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Corpo Estriado/diagnóstico por imagem , Denervação , Neurônios Dopaminérgicos/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa