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1.
Sensors (Basel) ; 24(15)2024 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-39123901

RESUMO

This paper aims to map the daily functional characteristics of people diagnosed with essential tremor (ET) based on their subjective self-reports. In addition, we provide objective measurements of a cup-drinking task. This study involved 20 participants diagnosed with ET who completed the Columbia University Assessment of Disability in Essential Tremor (CADET) questionnaire that included five additional tasks related to digital equipment operation we wrote. Participants also described task-performance modifications they implemented. To create objective personal performance profiles, they performed a cup-drinking task while being monitored using a sensor measurement system. The CADET's subjective self-report results indicate that the most prevalent tasks participants reported as having difficulty with or requiring modifications were writing, threading a needle, carrying a cup, using a spoon, pouring, and taking a photo or video on a mobile phone. Analysis of participants' modifications revealed that holding the object with two hands or with one hand supporting the other were the most prevalent types. No significant correlation was found between the CADET total scores and the cup drinking objective measures. Capturing patients' perspectives on their functional disability, alongside objective performance measures, is envisioned to contribute to the development of custom-tailored interventions aligned with individual profiles, i.e., patient-based/smart healthcare.


Assuntos
Tremor Essencial , Humanos , Tremor Essencial/fisiopatologia , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Inquéritos e Questionários , Análise e Desempenho de Tarefas , Autorrelato , Idoso de 80 Anos ou mais , Atividades Cotidianas
2.
Sensors (Basel) ; 24(15)2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39124007

RESUMO

Tremor, defined as an "involuntary, rhythmic, oscillatory movement of a body part", is a key feature of many neurological conditions including Parkinson's disease and essential tremor. Clinical assessment continues to be performed by visual observation with quantification on clinical scales. Methodologies for objectively quantifying tremor are promising but remain non-standardized across centers. Our center performs full-body behavioral testing with 3D motion capture for clinical and research purposes in patients with Parkinson's disease, essential tremor, and other conditions. The objective of this study was to assess the ability of several candidate processing pipelines to identify the presence or absence of tremor in kinematic data from patients with confirmed movement disorders and compare them to expert ratings from movement disorders specialists. We curated a database of 2272 separate kinematic data recordings from our center, each of which was contemporaneously annotated as tremor present or absent by a movement physician. We compared the ability of six separate processing pipelines to recreate clinician ratings based on F1 score, in addition to accuracy, precision, and recall. The performance across algorithms was generally comparable. The average F1 score was 0.84±0.02 (mean ± SD; range 0.81-0.87). The second highest performing algorithm (cross-validated F1=0.87) was a hybrid that used engineered features adapted from an algorithm in longstanding clinical use with a modern Support Vector Machine classifier. Taken together, our results suggest the potential to update legacy clinical decision support systems to incorporate modern machine learning classifiers to create better-performing tools.


Assuntos
Algoritmos , Transtornos dos Movimentos , Tremor , Humanos , Tremor/diagnóstico , Tremor/fisiopatologia , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/fisiopatologia , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Fenômenos Biomecânicos , Tremor Essencial/diagnóstico , Tremor Essencial/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso
3.
Artigo em Inglês | MEDLINE | ID: mdl-38973817

RESUMO

Background: The positive predictive value (PPV) of the International Classification of Diseases, Ninth Revision-Clinical Modification (ICD-9-CM) code for "essential and other specified forms of tremor" in identifying essential tremor (ET) cases was found to be less than 50%. The ability of the ICD-10-CM G25.0 code for "essential tremor" to identify ET has not been determined. The study objective was to determine the PPV of the G25.0 code. Methods: Patients in a tertiary health system with a primary care encounter associated with ICD-10-CM code G25.0 in 2022 underwent medical record review to determine if the consensus criteria from the International Parkinson and Movement Disorder Society for an ET diagnosis were met. Results: 442 patients were included. The PPV of G25.0 in identifying probable ET cases was 74.7% (95% confidence interval (CI) 70.4-78.5%). Among patients prescribed propranolol, the PPV improved to 87.8% (95% CI 78.0-93.6%). Discussion: Compared to the ICD-9-CM code 333.1, G25.0 is superior for identifying ET cases. A potential limitation of this study is that the consensus criteria applied relies on nonspecific physical exam findings which may lead to an overestimation of the PPV of G25.0. Highlights: The ICD-10-CM diagnosis code for essential tremor has not been previously validated. The objective of this study was to determine the PPV of the G25.0 code. The PPV in identifying essential tremor cases was 74.7%. The PPV improved among patients prescribed propranolol.


Assuntos
Tremor Essencial , Classificação Internacional de Doenças , Humanos , Tremor Essencial/diagnóstico , Tremor Essencial/classificação , Classificação Internacional de Doenças/normas , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Propranolol/uso terapêutico
4.
Artigo em Inglês | MEDLINE | ID: mdl-38973819

RESUMO

Clinical Vignette: A 63-year-old man with severe essential tremor underwent staged bilateral ventralis intermedius (Vim) deep brain stimulation (DBS). Left Vim DBS resulted in improved right upper extremity tremor control. Months later, the addition of right Vim DBS to the other brain hemisphere was associated with acute worsening of the right upper extremity tremor. Clinical Dilemma: In staged bilateral Vim DBS, second lead implantation may possibly alter ipsilateral tremor control. While ipsilateral improvement is common, rarely, it can disrupt previously achieved benefit. Clinical Solution: DBS programming, including an increase in left Vim DBS amplitude, re-established and enhanced bilateral tremor control. Gap in Knowledge: The mechanisms underlying changes in ipsilateral tremor control following a second lead implantation are unknown. In this case, worsening and subsequent improvement after optimization highlight the potential impact of DBS implantation on the ipsilateral side. Expert Commentary: After staged bilateral Vim DBS, clinicians should keep an eye on the first or original DBS side and carefully monitor for emergent side effects or worsening in tremor. Ipsilateral effects resulting from DBS implantation present a reprogramming opportunity with a potential to further optimize clinical outcomes. Highlights: This case report highlights the potential for ipsilateral tremor worsening following staged bilateral DBS and provides valuable insights into troubleshooting and reprogramming strategies. The report emphasizes the importance of vigilant monitoring and individualized management in optimizing clinical outcomes for patients undergoing staged bilateral DBS for essential tremor.


Assuntos
Estimulação Encefálica Profunda , Tremor Essencial , Humanos , Estimulação Encefálica Profunda/efeitos adversos , Estimulação Encefálica Profunda/métodos , Masculino , Pessoa de Meia-Idade , Tremor Essencial/terapia , Tremor Essencial/cirurgia , Tremor Essencial/fisiopatologia , Núcleos Ventrais do Tálamo/cirurgia
5.
Artigo em Inglês | MEDLINE | ID: mdl-38973820

RESUMO

Background: Large-language models (LLMs) driven by artificial intelligence allow people to engage in direct conversations about their health. The accuracy and readability of the answers provided by ChatGPT, the most famous LLM, about Essential Tremor (ET), one of the commonest movement disorders, have not yet been evaluated. Methods: Answers given by ChatGPT to 10 questions about ET were evaluated by 5 professionals and 15 laypeople with a score ranging from 1 (poor) to 5 (excellent) in terms of clarity, relevance, accuracy (only for professionals), comprehensiveness, and overall value of the response. We further calculated the readability of the answers. Results: ChatGPT answers received relatively positive evaluations, with median scores ranging between 4 and 5, by both groups and independently from the type of question. However, there was only moderate agreement between raters, especially in the group of professionals. Moreover, readability levels were poor for all examined answers. Discussion: ChatGPT provided relatively accurate and relevant answers, with some variability as judged by the group of professionals suggesting that the degree of literacy about ET has influenced the ratings and, indirectly, that the quality of information provided in clinical practice is also variable. Moreover, the readability of the answer provided by ChatGPT was found to be poor. LLMs will likely play a significant role in the future; therefore, health-related content generated by these tools should be monitored.


Assuntos
Compreensão , Tremor Essencial , Tremor Essencial/diagnóstico , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Adulto , Letramento em Saúde
7.
JAMA ; 332(5): 418-419, 2024 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-38976274

RESUMO

This JAMA Insights discusses the diagnostic evaluation and treatment, including pharmacological, nonpharmacological, and surgical options, of essential tremor.


Assuntos
Tremor Essencial , Humanos
8.
Expert Rev Neurother ; 24(8): 799-814, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39016323

RESUMO

INTRODUCTION: Essential tremor (ET) and Parkinson's disease (PD) are the most common causes of tremor and the most prevalent movement disorders, with overlapping clinical features that can lead to diagnostic challenges, especially in the early stages. AREAS COVERED: In the present paper, the authors review the clinical and experimental studies and emphasized the major aspects to differentiate between ET and PD, with particular attention to cardinal phenomenological features of these two conditions. Ancillary and experimental techniques, including neurophysiology, neuroimaging, fluid biomarker evaluation, and innovative methods, are also discussed for their role in differential diagnosis between ET and PD. Special attention is given to investigations and tools applicable in the early stages of the diseases, when the differential diagnosis between the two conditions is more challenging. Furthermore, the authors discuss knowledge gaps and unsolved issues in the field. EXPERT OPINION: Distinguishing ET and PD is crucial for prognostic purposes and appropriate treatment. Additionally, accurate diagnosis is critical for optimizing clinical and experimental research on pathophysiology and innovative therapies. In a few years, integrated technologies could enable accurate, reliable diagnosis from early disease stages or prodromal stages in at-risk populations, but further research combining different techniques is needed.


Assuntos
Tremor Essencial , Doença de Parkinson , Tremor Essencial/diagnóstico , Tremor Essencial/fisiopatologia , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/complicações , Diagnóstico Diferencial , Neuroimagem/métodos , Biomarcadores
9.
Neurosurg Rev ; 47(1): 372, 2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39078417

RESUMO

Magnetic resonance-guided focused ultrasound (MRgFUS) is a non-invasive lesioning technique used to treat movement disorders such as essential tremor (ET), Parkinson's disease (PD), and X-linked dystonia-parkinsonism (XDP). We would like to report our experience in establishing and developing our MRgFUS program and preliminary results. Adult patients with tremor-dominant PD (TDPD), ET, and XDP were considered for initial screening (neurologic evaluation, skull density ratio [SDR] determination). Eligible patients underwent secondary screening (neurosurgical and neuropsychological evaluation, psychiatric and medical clearance). During the procedure, a neuro-anesthesiologist and neurologist were also present to monitor the patient and perform neurologic evaluation, respectively. Clinical follow-up was scheduled at 2 weeks post-treatment, then at every 3 months. A total of 30 patients underwent MRgFUS treatment: 22 TDPD, 6 XDP, and 2 ET. The mean age was 55.7 years, and majority were male (86.7%). Mean disease duration was 8.6 years. Mean SDR was 0.46. The targets for TDPD and ET were the contralateral ventral intermediate nucleus of the thalamus; for XDP, it was the pallidothalamic tract. The mean maximum temperature was 59.8oC; number of sonocations, 7.3; and treatment time, 64.6 min. Majority of patients improved after the procedure. Transient intraprocedural adverse events (headache, dizziness) were reported in 20% of patients while post-procedural events (mild weakness, numbness) were seen in 16.7%. Only 26.7% of patients had follow-up data. Despite the unique challenges encountered, MRgFUS treatment is feasible in resource-limited settings. Additional steps would have to be made to develop and improve the program.


Assuntos
Tremor Essencial , Imageamento por Ressonância Magnética , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Tremor Essencial/terapia , Idoso , Adulto , Filipinas , Doença de Parkinson/terapia , Resultado do Tratamento , Região de Recursos Limitados
12.
Neurodegener Dis ; 24(1): 6-15, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38861955

RESUMO

INTRODUCTION: Sleep disturbances have been associated with essential tremor (ET). However, their pathophysiological underpinnings remain unknown. In this exploratory study, we examined the association between subjective sleep disturbances and the presence of Lewy pathology (LP) on postmortem brain examination in ET cases. METHODS: Fifty-two ET cases enrolled in a prospective, longitudinal study were assessed over an average period of 42 months. Cases completed the Pittsburgh Sleep Quality Index (PSQI), which yields seven component scores (e.g., sleep quality, sleep latency). For each component score, we calculated the difference between the last score and the baseline score. Brains were harvested at death. Each had a complete neuropathological assessment, including extensive α-synuclein immunostaining. We examined the associations between baseline PSQI scores and the change in PSQI scores (last - first), and LP on postmortem brain examination. RESULTS: ET cases had a mean baseline age of 87.1 ± 4.8 years. LP was observed in 12 (23.1%) of 52 cases; in 7 of these 12, LP was observed in the locus coeruleus (LC). Change in time needed to fall asleep (last - first sleep latency component score) was associated with presence of LP on postmortem brain examination - greater increase in sleep latency was associated with higher odds of LP (odds ratio = 2.98, p = 0.02). The greatest increase in sleep latency was observed in cases with LP in the LC (p = 0.04). CONCLUSION: In ET cases, increases in sleep latency over time could be a marker of underlying LP, especially in the LC.


Assuntos
Encéfalo , Tremor Essencial , Transtornos do Sono-Vigília , Humanos , Tremor Essencial/patologia , Feminino , Masculino , Transtornos do Sono-Vigília/patologia , Transtornos do Sono-Vigília/epidemiologia , Idoso de 80 Anos ou mais , Estudos Longitudinais , Idoso , Encéfalo/patologia , Estudos Prospectivos , Corpos de Lewy/patologia , Estudos de Coortes , alfa-Sinucleína/metabolismo
13.
Neurosurg Focus ; 56(6): E15, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38823057

RESUMO

OBJECTIVE: Essential tremor (ET) is the most common movement disorder. Deep brain stimulation (DBS) targeting the ventral intermediate nucleus (VIM) is known to improve symptoms in patients with medication-resistant ET. However, the clinical effectiveness of VIM-DBS may vary, and other targets have been proposed. The authors aimed to investigate whether the same anatomical structure is responsible for tremor control both immediately after VIM-DBS and at later follow-up evaluations. METHODS: Of 68 electrodes from 41 patients with ET, the authors mapped the distances of the active contact from the VIM, the dentatorubrothalamic tract (DRTT), and the caudal zona incerta (cZI) and compared them using Friedman's ANOVA and the Wilcoxon signed-rank follow-up test. The same distances were also compared between the initially planned target and the final implantation site after intraoperative macrostimulation. Finally, the comparison among the three structures was repeated for 16 electrodes whose active contact was changed after a mean 37.5 months follow-up to improve tremor control. RESULTS: After lead implantation, the VIM was statistically significantly closer to the active contact than both the DRTT (p = 0.008) and cZI (p < 0.001). This result did not change if the target was moved based on intraoperative macrostimulation. At the last follow-up, the active contact distance from the VIM was always significantly less than that of the cZI (p < 0.001), but the distance from the DRTT was reduced and even less than the distance from the VIM. CONCLUSIONS: In patients receiving VIM-DBS, the VIM itself is the structure driving the anti-tremor effect and remains more effective than the cZI, even years after implantation. Nevertheless, the role of the DRTT may become more important over time and may help sustain the clinical efficacy when the habituation from the VIM stimulation ensues.


Assuntos
Estimulação Encefálica Profunda , Tremor Essencial , Núcleos Ventrais do Tálamo , Zona Incerta , Humanos , Tremor Essencial/terapia , Tremor Essencial/cirurgia , Estimulação Encefálica Profunda/métodos , Zona Incerta/cirurgia , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Núcleos Ventrais do Tálamo/cirurgia , Resultado do Tratamento , Adulto , Seguimentos , Idoso de 80 Anos ou mais
14.
Artigo em Inglês | MEDLINE | ID: mdl-38854909

RESUMO

Background: The tremor characteristics of patients with spinocerebellar ataxia 12 (SCA12) are often likened to those in patients with essential tremor (ET); however, data are sparse, and videotaped tremor examinations are rare. Case Report: A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A PPP2R2B variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET. Discussion: Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling. Highlights: This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.


Assuntos
Tremor Essencial , Fenótipo , Ataxias Espinocerebelares , Tremor , Humanos , Feminino , Adulto , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico , Tremor Essencial/genética , Tremor Essencial/fisiopatologia , Tremor Essencial/diagnóstico , Tremor/genética , Tremor/fisiopatologia , Tremor/diagnóstico , Diagnóstico Diferencial
15.
Rev Neurol ; 78(12): 335-341, 2024 Jun 16.
Artigo em Espanhol | MEDLINE | ID: mdl-38867682

RESUMO

INTRODUCTION: High intensity focal ultrasound (HIFU) thalamotomy is a novel treatment for refractory tremor. This study aims to compare the reduction in tremor intensity and adverse effects of treatment between patients younger and older than 70 years of age. PATIENTS AND METHODS: All the patients with refractory essential tremor treated with HIFU between March 2021 and March 2023 were included consecutively. Various demographic and clinical variables were analysed, including age and the items on the Clinical Rating Scale for Tremor (CRST). Cerebral vascular pathology was quantified using the Fazekas scale. Outcomes and adverse effects were compared between the patients aged 70 years or younger, and those older than 70 years. RESULTS: Ninety patients were included, and 50 of them were over 70 years old. Prior to treatment, the CRST A + B score was 20.4 ± 5.7 among those under 70 years of age, and 23.3 ± 5.1 in those older (p = 0.013). At six months after treatment, the mean was 3.8 ± 5.1 and 4.8 ± 4.5, respectively (p = 0.314). We found no significant differences in the CRST C score (2.8 ± 4.1 and 3.5 ± 4.8, p = 0.442). There were also no significant differences between the patients with vascular pathology (Fazekas = 1) and those without (4.6 ± 7.3 and 4.3 ± 4, p = 0.832). There were no differences in the presence of adverse effects between the groups based on age and vascular pathology. CONCLUSIONS: Contrary to traditional opinion, older patients do not have a poorer response or a higher rate of adverse effects after HIFU treatment.


TITLE: Talamotomía unilateral con ultrasonidos focales de alta intensidad en pacientes con temblor esencial refractario: un estudio comparativo entre pacientes menores y mayores de 70 años.Introducción. La talamotomía con ultrasonidos focales de alta intensidad (HIFU) es un tratamiento novedoso para el temblor refractario. El objetivo de este estudio es comparar la reducción en la intensidad del temblor y los efectos adversos del tratamiento entre pacientes menores y mayores de 70 años. Pacientes y métodos. Se incluyó consecutivamente a todos los pacientes con temblor esencial refractario tratados con HIFU entre marzo de 2021 y marzo de 2023. Se analizaron diferentes variables demográficas y clínicas, incluyendo la edad y los apartados de la Clinical Rating Scale for Tremor (CRST). Se cuantificó la patología vascular cerebral mediante la escala de Fazekas. Se compararon los resultados y los efectos adversos entre los grupos de edad de 70 años o menos y de más de 70 años. Resultados. Se incluyó a 90 pacientes, 50 de ellos de más de 70 años. Previamente al tratamiento, la CRST A + B era de 20,4 ± 5,7 en los menores de 70 años y de 23,3 ± 5,1 en los mayores (p = 0,013). A los seis meses tras el tratamiento, la media fue de 3,8 ± 5,1 y 4,8 ± 4,5, respectivamente (p = 0,314). No hallamos diferencias significativas en la CRST C (2,8 ± 4,1 y 3,5 ± 4,8, p = 0,442). Tampoco hubo diferencias significativas entre pacientes con patología vascular (Fazekas = 1) y sin ella (4,6 ± 7,3 y 4,3 ± 4, p = 0,832). No hubo diferencias en la presencia de efectos adversos entre los grupos de edad y de patología vascular. Conclusiones. En contra de lo tradicionalmente concebido, los pacientes de mayor edad no tienen una peor respuesta ni una mayor tasa de efectos adversos tras el tratamiento con HIFU.


Assuntos
Tremor Essencial , Tálamo , Humanos , Tremor Essencial/terapia , Tremor Essencial/cirurgia , Tremor Essencial/diagnóstico por imagem , Idoso , Masculino , Feminino , Tálamo/diagnóstico por imagem , Tálamo/cirurgia , Pessoa de Meia-Idade , Fatores Etários , Idoso de 80 Anos ou mais , Ablação por Ultrassom Focalizado de Alta Intensidade/efeitos adversos , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Resultado do Tratamento , Estudos Retrospectivos , Adulto
16.
Artigo em Inglês | MEDLINE | ID: mdl-38881692

RESUMO

Background: Essential tremor (ET) is the most common movement disorder in adults and is considered to be highly heritable. A reduction of the tremor amplitude after alcohol consumption is reported in approximately half of the patients. In this study, we describe the alcohol response in our familial ET cohort by employing an alcohol responsivity test designed by Knudsen et al. outside its original research group for the first time. Methods: We recruited families with at least three trembling family members and confirmed ET diagnoses. During the in-hospital alcohol responsivity test, tremor was measured using Archimedes spirals before alcohol consumption (T0), one hour after alcohol intake (T1), and the next morning (T2). The spirals were rated by two independent raters using the Bain Findley scale. The average of these two scores was calculated as the Archimedes Spiral Rating (ASR) for each time point. Results: Twenty-four confirmed ET patients were included for analysis. The median ASR at T0 (5.0) and T2 (4.75) were significantly higher than the median ASR at T1 (3.25) (both p < 0.001). In 67% of patients, a difference in ASR between T0 and T1 (dASR) ≥ 2 pointed towards an improvement of tremor after consuming alcohol. Discussion: We confirmed that the alcohol responsiveness test of Knudsen et al. is useful in determining objective alcohol responsivity. We established a significantly reduced ASR after alcohol consumption in 67% of familial ET patients in our cohort. In the future, a larger population is needed to establish whether familial aggregation of alcohol responsivity occurs in essential tremor patients. Highlights: The test designed by Knudsen et al. effectively established objective alcohol responsiveness outside its original research group.We found an objective alcohol response in 67% of our familial ET cohort.Subjective VAS scores were significantly lower after alcohol consumption.There was no correlation between the objective and subjective alcohol responsiveness.Familial aggregation of alcohol responsiveness in ET should be studied in a larger cohort.


Assuntos
Consumo de Bebidas Alcoólicas , Tremor Essencial , Humanos , Tremor Essencial/genética , Tremor Essencial/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Adulto , Estudos de Coortes
17.
Sensors (Basel) ; 24(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38894268

RESUMO

Excessive stride variability is a characteristic feature of cerebellar ataxias, even in pre-ataxic or prodromal disease stages. This study explores the relation of variability of arm swing and trunk deflection in relationship to stride length and gait speed in previously described cohorts of cerebellar disease and healthy elderly: we examined 10 patients with spinocerebellar ataxia type 14 (SCA), 12 patients with essential tremor (ET), and 67 healthy elderly (HE). Using inertial sensors, recordings of gait performance were conducted at different subjective walking speeds to delineate gait parameters and respective coefficients of variability (CoV). Comparisons across cohorts and walking speed categories revealed slower stride velocities in SCA and ET patients compared to HE, which was paralleled by reduced arm swing range of motion (RoM), peak velocity, and increased CoV of stride length, while no group differences were found for trunk deflections and their variability. Larger arm swing RoM, peak velocity, and stride length were predicted by higher gait velocity in all cohorts. Lower gait velocity predicted higher CoV values of trunk sagittal and horizontal deflections, as well as arm swing and stride length in ET and SCA patients, but not in HE. These findings highlight the role of arm movements in ataxic gait and the impact of gait velocity on variability, which are essential for defining disease manifestation and disease-related changes in longitudinal observations.


Assuntos
Braço , Marcha , Velocidade de Caminhada , Humanos , Masculino , Marcha/fisiologia , Feminino , Idoso , Braço/fisiopatologia , Braço/fisiologia , Velocidade de Caminhada/fisiologia , Pessoa de Meia-Idade , Tronco/fisiopatologia , Tronco/fisiologia , Movimento/fisiologia , Doenças Cerebelares/fisiopatologia , Caminhada/fisiologia , Fenômenos Biomecânicos/fisiologia , Amplitude de Movimento Articular/fisiologia , Tremor Essencial/fisiopatologia
18.
Stereotact Funct Neurosurg ; 102(4): 203-208, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38834047

RESUMO

INTRODUCTION: Magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy is an effective treatment for drug-resistant tremor. The most frequent side effects are ataxia, gait disturbance, paresthesias, dysgeusia, and hemiparesis. Here, we report the first case of thalamic hand dystonia rapidly occurring after MRgFUS thalamotomy of the ventral intermediate nucleus (V.im). CASE PRESENTATION: MRgFUS thalamotomy was performed in a 60-year-old left-handed patient for his disabling medically refractory essential tremor. The intervention resulted in a marked reduction of his action tremor. However, the patient developed an unvoluntary abnormal posture in his left hand a few days after the procedure with difficulty holding a cigarette between his fingers. Brain MRI revealed the expected MRgFUS lesion within the right V.im as well as an extension of the lesion anteriorly to the V.im in the ventro-oralis nucleus. Tractography showed that the lesion disrupted the dentato-rubro-thalamic tract as expected with a lesion suppressing tremor. However, the lesion also was interrupted fibers connecting to the superior frontal and pre-central cortices (primary motor cortex, premotor cortex, and supplementary area). We hypothesized that the interventional MRgFUS thalamotomy was slightly off target, which induced a dysfunction within the cortico-striato-thalamo-cortical network and the cerebello-thalamo-cortical pathway reaching a sufficient threshold of basal ganglia/cerebellum circuitry interference to induce dystonia. CONCLUSION: This rare side effect emphasizes the risk of imbalance within the dystonia network (i.e., basal ganglia-cerebello-thalamo-cortical circuit) secondary to V.im thalamotomy.


Assuntos
Tremor Essencial , Tálamo , Humanos , Tremor Essencial/cirurgia , Tremor Essencial/diagnóstico por imagem , Pessoa de Meia-Idade , Masculino , Tálamo/cirurgia , Tálamo/diagnóstico por imagem , Mãos/cirurgia , Distonia/cirurgia , Distonia/diagnóstico por imagem , Distonia/etiologia , Imageamento por Ressonância Magnética , Núcleos Ventrais do Tálamo/cirurgia , Núcleos Ventrais do Tálamo/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Distúrbios Distônicos/cirurgia , Distúrbios Distônicos/diagnóstico por imagem , Procedimentos Neurocirúrgicos/métodos
19.
Brain Connect ; 14(6): 340-350, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38874981

RESUMO

Background: The basal ganglia-thalamocortical (BGTC) and cerebello-thalamocortical (CTC) networks are implicated in tremor genesis; however, exact contributions across disorders have not been studied. Objective: Evaluate the structural connectivity of BGTC and CTC in tremor-dominant Parkinson's disease (TDPD) and essential tremor plus (ETP) with the aid of probabilistic tractography and graph theory analysis. Methods: Structural connectomes of the BGTC and CTC were generated by probabilistic tractography for TDPD (n = 25), ETP (ET with rest tremor, n = 25), and healthy control (HC, n = 22). The Brain Connectivity Toolbox was used for computing standard topological graph measures of segregation, integration, and centrality. Tremor severity was ascertained using the Fahn-Tolosa-Marin tremor rating scale (FTMRS). Results: There was no difference in total FTMRS scores. Compared with HC, TDPD had a lower global efficiency and characteristic path length. Abnormality in segregation, integration, and centrality of bilateral putamen, globus pallidus externa (GPe), and GP interna (GPi), with reduction of centrality of right caudate and cerebellar lobule 8, was observed. ETP showed reduction in segregation and integration of right GPe and GPi, ventrolateral posterior nucleus, and centrality of right putamen, compared with HC. Differences between TDPD and ETP were a reduction of strength of the right putamen, and lower clustering coefficient, local efficiency, and strength of the left GPi in TDPD. Conclusions: Contrary to expectations, TDPD and ETP may not be significantly different with regard to tremor pathogenesis, with definite overlaps. There may be fundamental similarities in network disruption across different tremor disorders with the same tremor activation patterns, along with disease-specific changes.


Assuntos
Imagem de Tensor de Difusão , Tremor Essencial , Vias Neurais , Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/fisiopatologia , Tremor Essencial/diagnóstico por imagem , Tremor Essencial/fisiopatologia , Tremor Essencial/patologia , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Imagem de Tensor de Difusão/métodos , Vias Neurais/fisiopatologia , Vias Neurais/diagnóstico por imagem , Conectoma/métodos , Tremor/diagnóstico por imagem , Tremor/fisiopatologia , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/fisiopatologia , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Cerebelo/patologia , Tálamo/diagnóstico por imagem , Tálamo/fisiopatologia
20.
J Clin Neurosci ; 126: 38-45, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38824802

RESUMO

BACKGROUND: Essential tremor is a neurological condition associated with movement disorder with more prevalence among adult group of population. The burden of essential tremor is peaking globally but with the advancement in the area of functional neurosurgery such as stereotactic thalamotomy, the quality of life of such patients can be improved drastically. METHODS: This systemic review was conducted in accordance to the guidance of preferred Reporting items for Systematic Review and Meta-Analysis(PRISMA). Databases of "PubMed", "Embase", "Web of Science", "Cinhal Plus", and "Scopus" from inception till 2023 was undertaken. A combination of keywords, Medical Subject Headings (MeSH), and search terms such as Search strategy for PubMed search was as follows: "stereotactic thalamotomy" AND "essential tremor". RESULTS: This systematic review analyzed 9 studies with a total of 274 patients of essential tremor patients. Unilateral thalamotomy was carried out among 268 patients and bilateral thalamotomy in rest of the patients. Vim and Vom nucleus were the site of thalamotmy with ventral intermedius nucleus being the major one. Ten different types of clinical tremor rating scales were used to assess pre operative and post operative improvement in the tremor scales of the individual patients. Dysarthria and limb weakness was noted post operative complication in majority of the cases. CONCLUSION: Our study revealed that stereotactic thalamotomy provided good functional outcome in patients of essential tremor who underwent unilateral thalamotomy compared to bilateral thalamotomy. The positive outcome outweighs the complications in such functional surgery.


Assuntos
Tremor Essencial , Técnicas Estereotáxicas , Tálamo , Tremor Essencial/cirurgia , Humanos , Tálamo/cirurgia , Resultado do Tratamento
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