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1.
Sci Rep ; 14(1): 23456, 2024 10 08.
Artículo en Inglés | MEDLINE | ID: mdl-39379480

RESUMEN

Adapting to different environments throughout daily activities requires flexibility in allocating attention. Compromised dual-tasking can hinder mobility, increase fall risk, and decrease functional independence in patients with essential tremor, who exhibit both mobility and cognitive impairments. We evaluated motor and cognitive dual-task effects and task prioritization in 15 people with Essential Tremor (ET) and 15 age-matched people without ET during a standard and more challenging water-carry TUG. Task-specific interference was evaluated by calculating motor and cognitive dual-task effects, whereas task prioritization was assessed by contrasting the cognitive dual-task effect with the motor dual-task effect. The simultaneous performance of two tasks did not differentially impact motor or cognitive performance in either group, and both groups prioritized cognitive task performance in standard and water-carry TUG assessments. This study enhances our understanding of motor-cognitive interactions in individuals with essential tremor. These insights could lead to patient-centered approaches to therapy to improve functional performance in dynamic daily environments.


Asunto(s)
Cognición , Temblor Esencial , Humanos , Temblor Esencial/fisiopatología , Temblor Esencial/psicología , Masculino , Femenino , Anciano , Cognición/fisiología , Persona de Mediana Edad , Desempeño Psicomotor/fisiología , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/psicología , Atención/fisiología , Anciano de 80 o más Años , Análisis y Desempeño de Tareas
2.
Artículo en Inglés | MEDLINE | ID: mdl-39220675

RESUMEN

Background: Essential tremor (ET) and dystonic tremor (DT) are movement disorders that cause debilitating symptoms, significantly impacting daily activities and quality of life. A poor understanding of their pathophysiology, as well as the mediators of clinical outcomes following deep brain stimulation (DBS), highlights the need for biomarkers to accurately characterise and optimally treat patients. Objectives: We assessed the white matter microstructure of pathways implicated in the pathophysiology and therapeutic intervention in a retrospective cohort of patients with DT (n = 17) and ET (n = 19). We aimed to identity associations between white matter microstructure, upper limb tremor severity, and tremor improvement following DBS. Methods: A fixel-based analysis pipeline was implemented to investigate white matter microstructural metrics in the whole brain, cerebello-thalamic pathways and tracts connected to stimulation volumes following DBS. Associations with preoperative and postoperative severity were analysed within each disorder group and across combined disorder groups. Results: DBS led to significant improvements in both groups. No group differences in stimulation positions were identified. When white matter microstructural data was aligned according to the maximally affected upper limb, increased fiber density, and combined fiber density & cross-section of fixels in the left cerebellum were associated with greater tremor severity across DT and ET patients. White matter microstructure did not show associations with postoperative changes in cerebello-thalamic pathways, or tracts connected to stimulation volumes. Discussion: Diffusion changes of the cerebellum are associated with the severity of upper limb tremor and appear to overlap in essential or dystonic tremor disorders.


Asunto(s)
Estimulación Encefálica Profunda , Temblor Esencial , Sustancia Blanca , Humanos , Femenino , Masculino , Anciano , Persona de Mediana Edad , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Estudios Retrospectivos , Trastornos Distónicos/terapia , Trastornos Distónicos/fisiopatología , Trastornos Distónicos/diagnóstico por imagen , Índice de Severidad de la Enfermedad , Temblor/terapia , Temblor/fisiopatología , Temblor/diagnóstico por imagen , Resultado del Tratamiento
3.
Artículo en Inglés | MEDLINE | ID: mdl-39346807

RESUMEN

There are myths and misperceptions about most human diseases, and neurological diseases are no exception. In many instances, myths and misconceptions reflect what is no more than the collective failure of the field to catch up with the state of the science in that field. Hence, one may perhaps refer to these as "lags" rather than myths. As the field of medicine attempts to be evidence-based, it is best to remain true to published data and the state of the science. In this paper, I review six myths and misconceptions about ET. Myth 1 relates to the natural history and prognosis of ET. Myths 2 and 3 relate to the biological basis of ET, whereas myths 4 and 5 relate to the expression of the core clinical feature of ET. Finally, myth 6 focuses on the issue of disease classification. The myths are as follows: Myth 1: "ET is not associated with a shorter life expectancy". Myth 2: "The pathophysiology of ET remains unclear". Myth 3: "There have also been studies that do not show any cerebellar degeneration". Myth 4: "ET is a postural or a kinetic tremor". Myth 5: "Action tremor in ET is usually bilateral and symmetric". Myth 6: "ET plus". As neurologists, we are not ignorant of feedback loops. A regular review of facts should help to frame one's output. As such, one's formulations and output will be firmly grounded in data.


Asunto(s)
Temblor Esencial , Humanos , Temblor Esencial/fisiopatología , Pronóstico
4.
Artículo en Inglés | MEDLINE | ID: mdl-39331541

RESUMEN

The pathogenesis of essential tremor (ET) remains unclear, and the efficacy of related drug treatment is inadequate for proper tremor control. Hence, in the current study, consecutive low-frequency repetitive transcranial magnetic stimulation (rTMS) modulation on cerebellum was accomplished in a population of ET patients, along with pre- and post-treatment resting-state electroencephalogram (EEG) networks being constructed. The results primarily clarified the decreasing of resting-state network interactions occurring in ET, especially the weaker frontal-parietal connectivity, compared to healthy individuals. While after the rTMS stimulation, promotions in both network connectivity and properties, as well as clinical scales, were identified. Furthermore, significant correlations between network characteristics and clinical scale scores enabled the development of predictive models for assessing rTMS intervention efficacy. Using a multivariable linear model, clinical scales after one-month rTMS treatment were accurately predicted, underscoring the potential of brain networks in evaluating rTMS effectiveness for ET. The findings consistently demonstrated that repetitive low-frequency rTMS neuromodulation on cerebellum can significantly improve the manifestations of ET, and individual networks will be reliable tools for evaluating the rTMS efficacy, thereby guiding personalized treatment strategies for ET patients.


Asunto(s)
Cerebelo , Electroencefalografía , Temblor Esencial , Red Nerviosa , Descanso , Estimulación Magnética Transcraneal , Humanos , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Estimulación Magnética Transcraneal/métodos , Electroencefalografía/métodos , Masculino , Femenino , Persona de Mediana Edad , Resultado del Tratamiento , Cerebelo/fisiopatología , Anciano , Red Nerviosa/fisiopatología , Descanso/fisiología , Biomarcadores , Adulto
5.
Artículo en Inglés | MEDLINE | ID: mdl-39222447

RESUMEN

Parkinson's disease (PD) and essential tremor are two major causes of pathological tremor among people over 60 years old. Due to the side effects and complications of traditional tremor management methods such as medication and deep brain surgery, non invasive tremor suppression methods have become more popular in recent years. Functional electrical stimulation (FES) is one of the methods used to reduce tremor in several studies. However, the effect of different FES parameters on tremor suppression and discomfort level, including amplitude, the number of pulses in each stimulation burst, frequency, and pulse width is yet to be studied for longer stimulation durations. Therefore, in this work, experiments were performed on 14 participants with PD to evaluate the effect of thirty seconds of out-of-phase electrical stimulation on wrist tremor at rest. Trials were conducted by varying the stimulation amplitude and the number of pulses while keeping the frequency and pulse width constant. Each test was repeated three times for each participant. The results showed an overall tremor suppression for 11 out of 14 participants and no average positive effects for three participants. It is concluded that despite the effectiveness of FES in tremor suppression, each set of FES parameters showed different suppression levels among participants due to the variability of tremor over time. Thus, for this method to be effective, an adaptive control system would be required to tune FES parameters in real time according to changes in tremor during extended stimulation periods.


Asunto(s)
Terapia por Estimulación Eléctrica , Enfermedad de Parkinson , Temblor , Humanos , Masculino , Femenino , Persona de Mediana Edad , Temblor/terapia , Temblor/fisiopatología , Anciano , Enfermedad de Parkinson/terapia , Enfermedad de Parkinson/fisiopatología , Terapia por Estimulación Eléctrica/métodos , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Muñeca , Resultado del Tratamiento
6.
Artículo en Inglés | MEDLINE | ID: mdl-39184972

RESUMEN

Background: Whether low-frequency deep brain stimulation (DBS) in the caudal zona incerta (cZi) can improve cerebellar ataxia symptoms remains unexplored. Case Report: We report a 66-year-old man initially diagnosed with essential tremor and subsequently developed cerebellar ataxia after bilateral cZi DBS implantation. We tested the effects of low-frequency DBS stimulations (sham, 10 Hz, 15 Hz, 30 Hz) on ataxia severity. Discussion: Low-frequency cZi DBS improves ataxic speech at 30 Hz, but not at 10 Hz or 15 Hz in this patient. Low-frequency DBS did not improve gait or stance. Therefore, low-frequency stimulation may play a role in treating ataxic speech. Highlights: The finding of this case study suggests that bilateral low-frequency DBS at 30 Hz in the caudal zona incerta has the potential to improve ataxic speech but has limited impact on gait and stance. The involvement of zona incerta in speech warrants further investigation.


Asunto(s)
Ataxia Cerebelosa , Estimulación Encefálica Profunda , Temblor Esencial , Zona Incerta , Humanos , Estimulación Encefálica Profunda/métodos , Masculino , Anciano , Zona Incerta/fisiopatología , Ataxia Cerebelosa/terapia , Ataxia Cerebelosa/fisiopatología , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Temblor/terapia , Temblor/fisiopatología , Temblor/etiología
7.
Comput Biol Med ; 180: 108957, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39098236

RESUMEN

The tremors of Parkinson's disease (PD) and essential tremor (ET) are known to have overlapping characteristics that make it complicated for clinicians to distinguish them. While deep learning is robust in detecting features unnoticeable to humans, an opaque trained model is impractical in clinical scenarios as coincidental correlations in the training data may be used by the model to make classifications, which may result in misdiagnosis. This work aims to overcome the aforementioned challenge of deep learning models by introducing a multilayer BiLSTM network with explainable AI (XAI) that can better explain tremulous characteristics and quantify the respective discovered important regions in tremor differentiation. The proposed network classifies PD, ET, and normal tremors during drinking actions and derives the contribution from tremor characteristics, (i.e., time, frequency, amplitude, and actions) utilized in the classification task. The analysis shows that the XAI-BiLSTM marks the regions with high tremor amplitude as important in classification, which is verified by a high correlation between relevance distribution and tremor displacement amplitude. The XAI-BiLSTM discovered that the transition phases from arm resting to lifting (during the drinking cycle) is the most important action to classify tremors. Additionally, the XAI-BiLSTM reveals frequency ranges that only contribute to the classification of one tremor class, which may be the potential distinctive feature to overcome the overlapping frequencies problem. By revealing critical timing and frequency patterns unique to PD and ET tremors, this proposed XAI-BiLSTM model enables clinicians to make more informed classifications, potentially reducing misclassification rates and improving treatment outcomes.


Asunto(s)
Temblor Esencial , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/fisiopatología , Temblor Esencial/fisiopatología , Masculino , Femenino , Aprendizaje Profundo , Anciano , Persona de Mediana Edad , Temblor/fisiopatología
8.
Sensors (Basel) ; 24(15)2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39123901

RESUMEN

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.


Asunto(s)
Temblor Esencial , Humanos , Temblor Esencial/fisiopatología , Femenino , Masculino , Anciano , Persona de Mediana Edad , Encuestas y Cuestionarios , Análisis y Desempeño de Tareas , Autoinforme , Anciano de 80 o más Años , Actividades Cotidianas
9.
Sensors (Basel) ; 24(15)2024 Jul 31.
Artículo en Inglés | MEDLINE | ID: mdl-39124007

RESUMEN

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.


Asunto(s)
Algoritmos , Trastornos del Movimiento , Temblor , Humanos , Temblor/diagnóstico , Temblor/fisiopatología , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/fisiopatología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/fisiopatología , Fenómenos Biomecánicos , Temblor Esencial/diagnóstico , Temblor Esencial/fisiopatología , Masculino , Femenino , Persona de Mediana Edad , Anciano
10.
Mov Disord ; 39(10): 1817-1828, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39113400

RESUMEN

BACKGROUND: Essential tremor (ET) is a common debilitating condition, yet current treatments often fail to provide satisfactory relief. Transcutaneous spinal cord electrical stimulation (tSCS) has emerged as a potential noninvasive neuromodulation technique capable of disrupting the oscillatory activity underlying tremors. OBJECTIVE: This study aimed to investigate the potential of tSCS to disrupt tremor in a frequency-dependent manner in a cohort of patients with ET. METHODS: Eighteen patients with ET completed the study. The experiment consisted of 60-s postural tremor recording, during tSCS at tremor frequency, at 1 Hz, at 21 Hz, no stimulation, and trapezius stimulation. Tremor frequency and amplitude were analyzed and compared across the conditions. RESULTS: We found tremor amplitude reduction at tremor frequency stimulation significant only during the second half of the stimulation. The same stimulation resulted in the highest number of responders. tSCS at 1 Hz showed a trend toward decreased tremor amplitude in the latter half of stimulation. tSCS at 21 Hz did not produce any significant alterations in tremor, whereas trapezius stimulation exacerbated it. Notably, during tremor frequency stimulation, a subgroup of responders exhibited consistent synchronization between tremor phase and delivered stimulation, indicating tremor entrainment. CONCLUSIONS: Cervical tSCS holds promise for alleviating postural tremor in patients with ET when delivered at the subject's tremor frequency. The observed changes in tremor amplitude likely result from the modulation of spinal cord circuits by tSCS, which disrupts the oscillatory drive to muscles by affecting afferent pathways or spinal reflexes. However, the possibility of an interplay between spinal and supraspinal centers cannot be discounted. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Temblor Esencial , Estimulación de la Médula Espinal , Estimulación Eléctrica Transcutánea del Nervio , Humanos , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Femenino , Masculino , Estimulación de la Médula Espinal/métodos , Persona de Mediana Edad , Anciano , Estimulación Eléctrica Transcutánea del Nervio/métodos , Resultado del Tratamiento , Adulto
11.
Sci Bull (Beijing) ; 69(19): 3098-3105, 2024 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-39191568

RESUMEN

Magnetic resonance-guided focused ultrasound surgery (MRgFUS) thalamotomy is an emerging technique for medication-refractory essential tremor (ET), but with variable outcomes. This study used pattern regression analysis to identify brain signatures predictive of tremor improvements. Fifty-four ET patients (mean age = 63.06 years, standard deviation (SD) = 10.55 years, 38 males) underwent unilateral MRgFUS thalamotomy and were scanned for resting-state functional magnetic resonance imaging (rs-fMRI). Seventy-four healthy controls (mean age = 58.09 years, SD = 10.30 years, 38 males) were recruited for comparison. Tremor responses at 12 months posttreatment were evaluated by the Clinical Rating Scale for Tremor. The fractional amplitude of low-frequency fluctuations (fALFF) was calculated from rs-fMRI data. Two-sample t-test was used to generate a disease-specific mask, within which Multivariate Kernel Ridge Regression analyses were conducted. Predicted and actual clinical scores were compared using Pearson's correlation coefficient (r) and normalized mean squared error (Norm. MSE). Permutation test and leave-one-out strategy were applied for results validation. KRR identified fALFF patterns that significantly predicted the hand tremor improvement (r = 0.23, P = 0.025; Norm. MSE = 0.05, P = 0.026) and the postural tremor improvement (r = 0.28, P = 0.025; Norm. MSE = 0.06, P = 0.023), but not action tremor improvement. Lobule VI of right cerebellum (Cerebelum_6_R), right superior occipital gyrus (Occipital_Sup_R) and lobule X of vermis (Vermis_10) contributed most for hand tremor prediction (normalized weights (NW): 2.77%, 2.40%, 2.34%) while Vermis_10, left supplementary motor area (Supp_Motor_Area_L) and right hippocampus (Hippocampus_R) for postural tremor prediction (NW: 2.69%, 2.12%, 2.05%). The low contributing NW of the individual brain regions suggested that the fALFF pattern as a whole is an overall predicting feature. Preoperative fALFF pattern predicts tremor benefits induced by MRgFUS thalamotomy. ClinicalTrials.gov number: NCT04570046.


Asunto(s)
Temblor Esencial , Aprendizaje Automático , Imagen por Resonancia Magnética , Tálamo , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encéfalo/cirugía , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Temblor Esencial/cirugía , Temblor Esencial/fisiopatología , Imagen por Resonancia Magnética/métodos , Tálamo/cirugía , Tálamo/diagnóstico por imagen , Tálamo/fisiopatología , Resultado del Tratamiento
12.
Expert Rev Neurother ; 24(8): 799-814, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39016323

RESUMEN

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.


Asunto(s)
Temblor Esencial , Enfermedad de Parkinson , Temblor Esencial/diagnóstico , Temblor Esencial/fisiopatología , Humanos , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/complicaciones , Diagnóstico Diferencial , Neuroimagen/métodos , Biomarcadores
14.
Artículo en Inglés | MEDLINE | ID: mdl-38973819

RESUMEN

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.


Asunto(s)
Estimulación Encefálica Profunda , Temblor Esencial , Humanos , Estimulación Encefálica Profunda/efectos adversos , Estimulación Encefálica Profunda/métodos , Masculino , Persona de Mediana Edad , Temblor Esencial/terapia , Temblor Esencial/cirugía , Temblor Esencial/fisiopatología , Núcleos Talámicos Ventrales/cirugía
15.
Laryngoscope ; 134(11): 4599-4603, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38963230

RESUMEN

OBJECTIVE: Vocal tremor (VT) poses treatment challenges due to uncertain pathophysiology. VT is typically classified into two phenotypes: isolated vocal tremor (iVT) and essential tremor-related voice tremor (ETvt). The impact of phenotypes on upper aerodigestive tract physiology during swallowing remains unclear. Qualitative and quantitative measures were employed to characterize tremor phenotypes and investigate the effects on swallowing physiology. METHODS: Eleven ETvt participants (1 Male, 10 Female; x̄ age = 74) and 8 iVT participants (1 Male, 7 Female; x̄ age = 71) swallowed 20 mL boluses in cued and uncued conditions under standardized fluoroscopic visualization. Sustained/a/productions were captured to assess the rate and extent of fundamental frequency (F0) modulation. Penetration and Aspiration Scale (PAS) scores were obtained and swallowing biomechanics were captured using Swallowtail™ software. Participants also completed the Swallowing Quality of Life (SWAL-QOL) questionnaire. RESULTS: Hypopharyngeal transit was faster in both VT phenotypes compared with Swallowtail™ normative reference data. Total pharyngeal transit times, however, were only faster in patients with iVT, relative to reference data. No significant differences were observed on the SWAL-QOL or PAS between tremor phenotypes. SWAL-QOL scores revealed that these patients rarely reported dysphagia symptoms. CONCLUSIONS: Subtle differences in swallowing patterns were observed across VT phenotypes, possibly related to adaptive mechanisms resulting in quicker pharyngeal bolus transit. Most patients did not report swallowing issues or dysphagia symptoms. This study is foundational for larger studies on this challenging population. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:4599-4603, 2024.


Asunto(s)
Trastornos de Deglución , Deglución , Trastornos de la Voz , Humanos , Masculino , Femenino , Proyectos Piloto , Anciano , Deglución/fisiología , Trastornos de Deglución/fisiopatología , Trastornos de la Voz/fisiopatología , Trastornos de la Voz/etiología , Trastornos de la Voz/diagnóstico , Calidad de Vida , Temblor Esencial/fisiopatología , Temblor Esencial/complicaciones , Temblor/fisiopatología , Persona de Mediana Edad , Anciano de 80 o más Años
17.
Artículo en Inglés | MEDLINE | ID: mdl-38881692

RESUMEN

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.


Asunto(s)
Consumo de Bebidas Alcohólicas , Temblor Esencial , Humanos , Temblor Esencial/genética , Temblor Esencial/fisiopatología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Estudios de Cohortes
18.
Neurotherapeutics ; 21(4): e00375, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38824101

RESUMEN

Deep brain stimulation (DBS) targeting the ventral intermediate (Vim) nucleus of the thalamus is an effective treatment for essential tremor (ET). We studied 15 â€‹ET patients undergoing DBS to a major input/output tract of the Vim, the dentato-rubro-thalamic tract (DRTt), using resting state functional MRI (rsfMRI) to evaluate connectivity differences between DBS ON and OFF and elucidate significant regions most influential in impacting tremor control and/or concomitant gait ataxia. Anatomical/functional 1.5T MRIs were acquired and replicated for each DBS state. Tremor severity and gait ataxia severity were scored with DBS ON at optimal stimulation parameters and immediately upon DBS OFF. Whole brain analysis was performed using dual regression analysis followed by randomized permutation testing for multiple correction comparison. Regions of interest (ROI) analysis was also performed. All 15 patients had tremor improvement between DBS ON/OFF (p â€‹< â€‹0.001). Whole brain analysis revealed significant connectivity changes between states in the left pre-central gyrus and left supplemental motor area. Group analysis of ROIs revealed that, with threshold p â€‹< â€‹0.05, in DBS ON vs. OFF both tremor duration and tremor improvement were significantly correlated to changes in connectivity. A sub-group analysis of patients with greater ataxia had significantly decreased functional connectivity between multiple ROIs in the cortex and cerebellum when DBS was ON compared to OFF. Stimulation of the DRTt and concordant improvement of tremor resulted in connectivity changes seen in multiple regions outside the motor network; when combined with both structural and electrophysiologic connectivity, this may help to serve as a biomarker to improve DBS targeting and possibly predict outcome.


Asunto(s)
Estimulación Encefálica Profunda , Temblor Esencial , Imagen por Resonancia Magnética , Humanos , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Temblor Esencial/diagnóstico por imagen , Estimulación Encefálica Profunda/métodos , Femenino , Masculino , Persona de Mediana Edad , Anciano , Imagen por Resonancia Magnética/métodos , Núcleos Talámicos Ventrales/diagnóstico por imagen , Vías Nerviosas/fisiopatología , Vías Nerviosas/diagnóstico por imagen , Encéfalo/fisiopatología , Encéfalo/diagnóstico por imagen
19.
Brain Connect ; 14(6): 340-350, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38874981

RESUMEN

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.


Asunto(s)
Imagen de Difusión Tensora , Temblor Esencial , Vías Nerviosas , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/fisiopatología , Temblor Esencial/diagnóstico por imagen , Temblor Esencial/fisiopatología , Temblor Esencial/patología , Femenino , Masculino , Persona de Mediana Edad , Anciano , Imagen de Difusión Tensora/métodos , Vías Nerviosas/fisiopatología , Vías Nerviosas/diagnóstico por imagen , Conectoma/métodos , Temblor/diagnóstico por imagen , Temblor/fisiopatología , Ganglios Basales/diagnóstico por imagen , Ganglios Basales/fisiopatología , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/fisiopatología , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Cerebelo/patología , Tálamo/diagnóstico por imagen , Tálamo/fisiopatología
20.
Brain Connect ; 14(7): 382-390, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38874971

RESUMEN

Introduction: Essential tremor (ET) comprises motor and non-motor-related features, whereas the current neuro-pathogenetic basis is still insufficient to explain the etiologies of ET. Although cerebellum-associated circuits have been discovered, the large-scale cerebral network connectivity in ET remains unclear. This study aimed to characterize the ET in terms of functional connectivity as well as network. We hypothesized that the resting-state network (RSN) within cerebrum could be altered in patients with ET. Methods: Resting-state functional magnetic resonance imaging (fMRI) was used to evaluate the inter- and intra-network connectivity as well as the functional activity in ET and normal control. Correlation analysis was performed to explore the relationship between RSN metrics and tremor features. Results: Comparison of inter-network connectivity indicated a decreased connectivity between default mode network and ventral attention network in the ET group (p < 0.05). Differences in functional activity (assessed by amplitude of low-frequency fluctuation, ALFF) were found in several brain regions participating in various RSNs (p < 0.05). The ET group generally has higher degree centrality over normal control. Correlation analysis has revealed that tremor features are associated with inter-network connectivity (|r| = 0.135-0.506), ALFF (|r| = 0.313-0.766), and degree centrality (|r| = 0.523-0.710). Conclusion: Alterations in the cerebral network of ET were detected by using resting-state fMRI, demonstrating a potentially useful approach to explore the cerebral alterations in ET.


Asunto(s)
Encéfalo , Temblor Esencial , Imagen por Resonancia Magnética , Red Nerviosa , Humanos , Temblor Esencial/fisiopatología , Temblor Esencial/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Femenino , Masculino , Encéfalo/fisiopatología , Encéfalo/diagnóstico por imagen , Persona de Mediana Edad , Red Nerviosa/fisiopatología , Red Nerviosa/diagnóstico por imagen , Anciano , Mapeo Encefálico/métodos , Descanso , Vías Nerviosas/fisiopatología , Vías Nerviosas/diagnóstico por imagen , Conectoma/métodos , Adulto
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