Tremor Cases Research Articles

Palatal tremor: a literature review and case report.

Palatal tremor is a rare involuntary rhythmic oscillation of the soft palate which may be found in isolation or in association with other forms of segmental myoclonus. It is seldom reported in the literature and varies considerably in its aetiology, clinical presentation and management. The Google Scholar database was searched to retrieve relevant research articles. We also outline a case of essential palatal tremor in a 17-year-old male. Symptomatic palatal tremor is due to established pathophysiology whereas essential palatal tremor is idiopathic in origin. We discuss the current assessment and management (surgical and non-surgical) of both essential and symptomatic palatal tremor. There is currently no single treatment considered curative for either type of palatal tremor. Further research into and discussion of this rare condition amongst clinicians would be beneficial.

First detection of atypical porcine pestivirus in piglets affected by congenital tremor in Poland.

Congenital tremors are neurological disorders of newborn piglets that may lead to serious health consequences, including increased mortality. Many reports have indicated that atypical porcine pestivirus (APPV), first identified in 2015, is a possible cause of this condition. In different countries, APPV was detected in farms affected by piglets' congenital tremors. There is a lack of data regarding the presence of this virus in Poland. However, swine veterinarians report outbreaks of congenital tremor with unestablished aetiology nationwide. Therefore, this study aimed to verify the presence of APPV in piglets with congenital tremors in Poland. Samples of blood (2), faecal swabs (7), brain (7), cerebellum (5), spinal cord, (7) lymph nodes (7), tonsil (7), thymus (6), tongue (7), heart (7), lung (7) and liver (7) were collected from piglets. Form sows' blood (5) and oral fluid (3, pooling samples) were collected. All samples have been derived from a commercial breeding farm reporting a case of congenital tremor and subjected to the qPCR via commercial kit (EXOone Atypical Porcine Pestivirus, Exopol, Spain). Six out of seven piglets tested positive for APPV, with the highest viral loads detected in the cerebellum and tonsils. All samples from sows were negative, emphasising the virus's specificity to piglets. To the authors' knowledge, this is the first report confirming APPV's presence in Poland. Given the potentially significant impact of APPV infections on swine health and production economics, further research evaluating the epidemiology and pathogenicity of APPV, as well as identifying preventive measures, is sorely needed.

Audible tremor: Analysis of the validity of audible information in assessing tremor severity.

Audible tremor: Analysis of the validity of audible information in assessing tremor severity.

Ultrasonography for Assessment and Intervention With Botulinum Toxin Injection for Tremors.

Tremors are caused by contractions of reciprocally innervated muscles. The role of ultrasound in diagnosing tremors has not yet been investigated, although it appears to be promising because it can visualize muscle movements. In the present study, we report four cases of tremor (Holmes' tremor, extremity tremor associated with palatal myoclonus, dystonic tremor, and tremor associated with dystonia), which were evaluated using ultrasound and treated with botulinum toxin injections. The muscles of patients with tremors were examined using B- or M-mode ultrasound while they were in the supine position. Tremor was determined by involuntary muscular contraction (B-mode) or fasciculation (M-mode) from recorded sonography clips. Thereafter, tremors were measured as frequency and amplitude of specific muscles. Ultrasound-guided botulinum toxin type A injection was administered, and follow-up ultrasonography was used to assess tremors. Tremors, which manifest as a specific set of muscle contractions, were measured using ultrasonography and treated with botulinum toxin injection. Follow-up ultrasonography revealed improved tremors as seen with decreased frequency and amplitude of specific muscle after the intervention, which included medication and botulinum toxin injections. Ultrasonography is an effective assessment tool for tremors, allowing further information regarding tremor characteristics with high sensitivity, playing a role in detecting specific muscles that are affected by tremors, and guiding an exact intervention with botulinum toxin.

White matter correlates of gait and balance dysfunction in essential tremor patients

White matter correlates of gait and balance dysfunction in essential tremor patients

A Rare Case of Tremor Induces by Cycloserine in Drug-Resistant Tuberculosis Patient

Background: Tuberculosis is a contagious disease that generated by Mycobacterium tuberculosis. Drug-Resistant tuberculosis (DR-TB) is inculpated the use of the second-line anti-tubercular treatment which is associated with many drug side effects or so called, Adverse Drug Reactions (ADR). Cycloserine (Cs) is an important drug against drug resistant tuberculosis (DR-TB). Cycloserine has been used in tuberculosis therapy since the late 1950s. Identical with most drug, Cycloserine can cause many Adverse Drug Reactions (ADR). Case Illustration: A 23-year-old woman diagnosed with drug-resistant tuberculosis is undergoing long-term treatment. The patient received treatment for DR-TB with the Bdq-Lfx-Cfz-Cs-E regimen. After the patient underwent the 10th month of advanced phase treatment, the patient complained of shaking in both hands (tremors). The tremor is felt to be more severe in the right hand and the patient cannot grip objects tightly. Discussion: Cycloserine (Cs) play an important role in second-line drug management of DR-TB. Cs-Induced psychosis and other neurological side-effects can be detrimental towards patients yet they are rarely reports in DR-TB cases. Cs is correlated with severe psychiatric cases and Central Nervous System related ADRs. Cs-associated ADR is most likely because of production of gamma-aminobutyric acid as a result of inhibition of glutamic decarboxylase. Study Shown that among 132 patients who reported side effects in the cycloserine group, 2 (1.4%) experienced major side effects, namely tremors. Side effects possibly or probably related to Cs appeared after a median of 71 days (range 10–331 days) of Cs treatment. Conclusion: the drug side effects such as tremors are very rare in drug-resistant tuberculosis patients. In this case, the patient's complaint of tremors could be caused by cycloserine as an anti-tuberculosis drug.

Severe and unclassifiable tremor.

Patients often exhibit very severe or disabling forms of tremor that cannot be clearly characterized. To present a series of 37 cases of tremor considered unclassifiable. Patients diagnosed with essential tremor according to criteria of the International Parkinson Disease and Movement Disorder Society (IPDMDS), who had been previously studied, were included as controls. All patients underwent a battery of tests between 2019 and 2022, which enabled us to compare them. Relevant demographic and clinical information were collected. The following tools were applied: the Mini-Mental State Examination (MMSE); the Hospital Anxiety and Depression Scale (HADS); the Fahn-Tolosa-Marín Tremor Rating Scale (TRS); and the Quality of Life in Essential Tremor (QUEST). A simple brain magnetic resonance imaging (MRI) scan was performed for all patients. The categorical variables were compared using the Chi-squared test and the t-test with Fisher correction if appropriate, and the quantitative variables were compared through the two-tailed Student t-test. Values of p ≤ 0.01 were considered statistically significant. The cases presented higher scores on the anxiety and depression subscales of the HADS than the controls (p ≤ 0.006 and 0.000 respectively). In all domains of the TRS, the cases scored significantly higher, as well as in the QUEST. History of enolism was higher among the controls, and history of orthostasis and rest tremor was higher among the cases (p ≤ 0.000). Cerebellar atrophy was present in every patient in the case group, and in 24 subjects in the control group. Dystonia was observed in 7 subjects in the case group, and in none of the patients in the control group. There are patients with unclassifiable and extremely disabling tremors who respond poorly to the pharmacological therapy options.

An atypical case of head tremor

An atypical case of head tremor

Pathologically based criteria to distinguish essential tremor from controls: analyses of the human cerebellum.

Essential tremor is among the most prevalent neurological diseases. Diagnosis is based entirely on neurological evaluation. Historically, there were few postmortem brain studies, hindering attempts to develop pathologically based criteria to distinguish essential tremor from control brains. However, an intensive effort to bank essential tremor brains over recent years has resulted in postmortem studies involving >200 brains, which have identified numerous degenerative changes in the essential tremor cerebellar cortex. Although essential tremor and controls have been compared with respect to individual metrics of pathology, there has been no overarching analysis to derive a combination of metrics to distinguish essential tremor from controls. We asked whether there is a constellation of pathological findings that separates essential tremor from controls, and how well that constellation performs. Analyses included 100 essential tremor brains from the essential tremor centralized brain repository and 50 control brains. A standard tissue block from the cerebellar cortex was used to quantify 11 metrics of pathological change. Three supervised classification algorithms were investigated, with data divided into training and validation samples. Using three different algorithms, we illustrate the ability to correctly predict a diagnosis of essential tremor, with sensitivity and specificity >87%, and in the majority of situations, >90%. We also provide a web-based application that uses these metric values, and based on specified cutoffs, determines the likely diagnosis. These analyses set the stage for use of pathologically based criteria to distinguish clinically diagnosed essential tremor cases from controls, at the time of postmortem.

A dynamically stable self-healable wire based on mechanical-electrical coupling.

The rise in wearable electronics has witnessed the advancement of self-healable wires, which are capable of recovering mechanical and electrical properties upon structural damage. However, their highly fluctuating electrical resistances in the range of hundreds to thousands of ohms under dynamic conditions such as bending, pressing, stretching and tremoring may seriously degrade the precision and continuity of the resulting electronic devices, thus severely hindering their wearable applications. Here, we report a new family of self-healable wires with high strengths and stable electrical conductivities under dynamic conditions, inspired by mechanical-electrical coupling of the myelinated axon in nature. Our self-healable wire based on mechanical-electrical coupling between the structural and conductive components has significantly improved the electrical stability under dynamic scenarios, enabling precise monitoring of human health status and daily activities, even in the case of limb tremors from simulated Parkinson's disease. Our mechanical-electrical coupling strategy opens a new avenue for the development of dynamically stable electrodes and devices toward real-world wearable applications.

Validation of the International Classification of Diseases, Tenth Revision-Clinical Modification Diagnostic Code for Essential Tremor.

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. 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. 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%). 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. 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.

Reduced Bergmann glial process terminations and lateral appendages in essential tremor.

Postmortem examination of the essential tremor cerebellum has revealed a variety of pathological changes centered in and around Purkinje cells. Studies have predominantly focused on cerebellar neuronal connections. Bergmann glial morphology has not yet been studied in essential tremor. Among their many roles, Bergmann glia in the cerebellar cortex ensheath Purkinje cell synapses and provide neuroprotection. Specifically, the complex radial processes and lateral appendages of Bergmann glia are structural domains that modulate Purkinje cell synaptic transmission. In this study, we investigate whether Bergmann glia morphology is altered in the essential tremor cerebellum. We applied the Golgi-Kopsch method and used computerized three-dimensional cell reconstruction to visualize Bergmann glia in the postmortem cerebellum of 34 cases and 17 controls. We quantified morphology of terminal structures (number of terminations and lateral appendage density) and morphology of radial processes (total process length, branch length, branch order, and branch volume) in each glial cell. We quantified number of branches and volume as well. Essential tremor cases had a 31.9% decrease in process terminations and a 35.7% decrease in lateral appendage density in Bergmann glia. Total process length and branch length did not differ between essential tremor cases and controls. We found also a reduction in number of secondary and tertiary branches and tertiary branches volume. These findings suggest that Bergmann glia in essential tremor cases have more alterations in their terminal structures, with a relative preservation of radial processes, and highlight a potential role for these astrocytes in the disease pathophysiology.

A prospective cohort study of familial versus sporadic essential tremor cases: Do clinical features evolve differently across time?

A prospective cohort study of familial versus sporadic essential tremor cases: Do clinical features evolve differently across time?

Four New Cases of Progressive Ataxia and Palatal Tremor (PAPT) and a Literature Review

PAPT syndrome is a rare neurologic disorder characterized by progressive ataxia and palatal tremor (rhythmic movements of the soft palate). The first large study of PAPT patients was published in 2004, included a total of 28 sporadic PAPT cases, and suggested a neurodegenerative origin. In the last several years, case reports and small case series followed, underlining the heterogeneity of the clinical picture and underlying aetiology (including neurodegenerative, vascular, infectious/autoimmune, and genetic). As a contribution to the literature, we report on four new patients with PAPT syndrome from Bern. Our study highlights the diverse clinical presentation (pyramidal, extrapyramidal, bulbar, cognitive, psychiatric symptoms, and autonomic features), summarizes the known literature, and extends it by findings on sleep studies (obstructive/central sleep apnoea, sleep disturbance). Possible aetiologies and management aspects are discussed in light of the current literature.

An attempt to use machine learning algorithms to predict strong tremors during longwall mining of a coal seam

An attempt to use machine learning algorithms to predict strong tremors during longwall mining of a coal seam

A Case of Task-Specific Tremor of the Hand While Driving.

A Case of Task-Specific Tremor of the Hand While Driving.

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

BackgroundPhospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6.MethodsAn extensive review of the patients’ data was carried out. Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS) was used for evaluating the severity and progression of INAD patients. Whole-exome sequencing was used to determine the disease's underlying etiology followed by co-segregation analysis using Sanger sequencing. In silico prediction analysis based on the ACMG recommendation was used to assess the pathogenicity of genetic variants. We aimed to survey a genotype-genotype correlation in PLA2G6 considering all reported disease-causing variants in addition to our patients using the HGMD database and the chi-square statistical approach.ResultsEighteen cases of INAD and 7 cases of late-onset PLAN were enrolled. Among 18 patients with INAD, gross motor regression was the most common presenting symptom. Considering the INAD-RS total score, the mean rate of progression was 0.58 points per month of symptoms (Standard error 0.22, lower 95% − 1.10, and upper 95% − 0.15). Sixty percent of the maximum potential loss in the INAD-RS had occurred within 60 months of symptom onset in INAD patients. Among seven adult cases of PLAN, hypokinesia, tremor, ataxic gate, and cognitive impairment were the most frequent clinical features. Various brain imaging abnormalities were also observed in 26 imaging series of these patients with cerebellar atrophy being the most common finding in more than 50%. Twenty unique variants in 25 patients with PLAN were detected including nine novel variants. Altogether, 107 distinct disease-causing variants from 87 patient were analyzed to establish a genotype–phenotype correlation. The P value of the chi-square test did not indicate a significant relationship between age of disease onset and the distribution of reported variants on PLA2G6.ConclusionPLAN presents with a wide spectrum of clinical symptoms from infancy to adulthood. PLAN should be considered in adult patients with parkinsonism or cognition decline. Based on the current knowledge, it is not possible to foresee the age of disease onset based on the identified genotype.

Pseudo-Orthostatic Tremor as a Manifestation of Vitamin B12 Deficiency: A Case Report

Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We present the case of a 30-year-old vegan male presenting with tremors on both legs when standing which was relieved by vitamin B12 supplementation. To the best of our knowledge, this is the first documented case of slow orthostatic tremor or pseudo-orthostatic tremor caused by vitamin B12 deficiency. Key words: Vitamin B12 Deficiency, Cobalamin, Vegan, Movement Disorders, Tremor, Orthostatic Tremor, Shaky-leg Syndrome, Electromyography

Characterizing Lewy Pathology in 231 Essential Tremor Brains from the Essential Tremor Centralized Brain Repository (S51.005)

<h3>Objective:</h3> To address several questions: (1) What proportion of essential tremor (ET) cases exhibit Lewy pathology (LP)? (2) What is the nature (i.e., type, location, severity) of that pathology? (3) How does that pathology relate to various neurodegenerative conditions (e.g., Parkinson’s disease [PD], Alzheimer’s type changes)? (4) What are the clinical correlates of that pathology? <h3>Background:</h3> The aforementioned questions have significant value in terms of furthering our understanding of the biological and mechanistic basis for ET. The Essential Tremor Centralized Brain Repository is the largest repository of prospectively-collected ET brains (n = 231). Hence, we are uniquely poised to address these questions. <h3>Design/Methods:</h3> Each brain had a complete neuropathological assessment, including assessment of LP with alpha-synuclein immunostaining. We created a 10-category classification scheme to fully encapsulate the patterns of LP observed. Four metrics of cerebellar pathology were also quantified. <h3>Results:</h3> Mean age at death = 89.0 ± 6.4 years. Fifty-eight (25.1%) had LP and 46 (19.9%) had early to late stages of pathologic PD. LP was very heterogeneous. Of 58 cases with LP, 14 (24.1%) clinically developed possible PD or PD after a latency of five or more years. There was a similar degree of cerebellar pathology in ET cases both with and without LP. <h3>Conclusions:</h3> One-in-four ET cases had LP, a proportion that in the context of other studies among control populations seems high. LP was heterogeneous, and likely a partial function of observed clinical associations between (1) ET and PD and (2) ET and Alzheimer’s disease, as well as other factors that are unknown. There was evidence of cerebellar degeneration in ET cases both with and without LP, rather than just without. These data have value in terms of furthering our understanding of the biological and mechanistic basis for ET as well as its relatedness to other degenerative diseases. <b>Disclosure:</b> Dr. Louis has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wolters Kluwer - Merritt’s Textbook of Neurology. The institution of Dr. Louis has received research support from National Institutes of Health. Dr. Kuo has nothing to disclose. Phyllis Faust has nothing to disclose.

Limb positioning and magnitude of postural tremor ratings: A study of 100 essential tremor cases

Limb positioning and magnitude of postural tremor ratings: A study of 100 essential tremor cases