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1.
eNeuro ; 11(9)2024 Sep.
Article in English | MEDLINE | ID: mdl-39227153

ABSTRACT

Contemporary research has begun to show a strong relationship between movements and the perception of time. More specifically, concurrent movements serve to both bias and enhance time estimates. To explain these effects, we recently proposed a mechanism by which movements provide a secondary channel for estimating duration that is combined optimally with sensory estimates. However, a critical test of this framework is that by introducing "noise" into movements, sensory estimates of time should similarly become noisier. To accomplish this, we had human participants move a robotic arm while estimating intervals of time in either auditory or visual modalities (n = 24, ea.). Crucially, we introduced an artificial "tremor" in the arm while subjects were moving, that varied across three levels of amplitude (1-3 N) or frequency (4-12 Hz). The results of both experiments revealed that increasing the frequency of the tremor led to noisier estimates of duration. Further, the effect of noise varied with the base precision of the interval, such that a naturally less precise timing (i.e., visual) was more influenced by the tremor than a naturally more precise modality (i.e., auditory). To explain these findings, we fit the data with a recently developed drift-diffusion model of perceptual decision-making, in which the momentary, within-trial variance was allowed to vary across conditions. Here, we found that the model could recapitulate the observed findings, further supporting the theory that movements influence perception directly. Overall, our findings support the proposed framework, and demonstrate the utility of inducing motor noise via artificial tremors.


Subject(s)
Auditory Perception , Time Perception , Tremor , Humans , Male , Female , Tremor/physiopathology , Adult , Young Adult , Time Perception/physiology , Auditory Perception/physiology , Visual Perception/physiology , Movement/physiology
2.
Neurosurg Rev ; 47(1): 701, 2024 Sep 27.
Article in English | MEDLINE | ID: mdl-39331247

ABSTRACT

INTRODUCTION: Tremor-dominant Parkinson's Disease (TDPD) has a slower neurological decline compared to other phenotypes of the disease, but significantly impacts daily activities and is often less responsive to standard medications. Magnetic Resonance-guided Focused Ultrasound (MRgFUS) lesioning of the Ventral Intermediate (VIM) nucleus of the thalamus may alleviate symptoms for these patients. METHODS: A systematic review and meta-analysis of English-language studies from PubMed, Cochrane, and Embase were conducted, assessing the efficacy and safety of MRgFUS VIM thalamotomy in TDPD patients. Tremor scores were evaluated using the Clinical Scale Rating for Tremor and the Movement Disorders Society - Unified Parkinson's Disease Rating Scale (MDS-UPDRSIII). Neuropsychological outcomes were measured using the Parkinson Disease Questionnaire (PDQ) and the Montreal Cognitive Assessment. This analysis adhered to Cochrane and PRISMA guidelines. RESULTS: Thirteen studies with 211 patients were included. MDS-UPDRSIII scores showed significant improvement at 1, 6, and 12 months post-MRgFUS, respectively: (MD -8.92 points, 95% CI: -15.44 to -2.40, p < 0.01; MD -7.39 points, 95% CI: -11.47 to -3.30, p < 0.01; MD -10.66 points, 95% CI: -16.89 to -4.43, p < 0.01). PDQ scores at baseline compared to 6 months post-treatment also indicated a significant improvement (SMD - 0.86, 95% CI: -1.21 to -0.50, p < 0.01). Neurological adverse events were generally mild and transient, with gait instability and sensory deficits being the most common. CONCLUSION: This meta-analysis demonstrates significant improvements in tremor and neuropsychological outcomes following MRgFUS VIM thalamotomy in TDPD patients, with adverse events being typically mild and transient.


Subject(s)
Parkinson Disease , Tremor , Humans , Parkinson Disease/surgery , Parkinson Disease/complications , Tremor/surgery , Tremor/etiology , Ventral Thalamic Nuclei/surgery , Treatment Outcome , Magnetic Resonance Imaging/methods , Neurosurgical Procedures/methods , Thalamus/surgery
3.
Acta Biotheor ; 72(3): 11, 2024 Sep 02.
Article in English | MEDLINE | ID: mdl-39223402

ABSTRACT

Using delay differential equations to study mathematical models of Parkinson's disease and Huntington's disease is important to show how important it is for synchronization between basal ganglia loops to work together. We used the delay circuit RLC (resistor, inductor, capacitor) model to show how the direct pathway and the indirect pathway in the basal ganglia excite and inhibit the motor cortex, respectively. A term has been added to the mathematical model without time delay in the case of the hyperdirect pathway. It is proposed to add a non-linear term to adjust the synchronization. We studied Hopf bifurcation conditions for the proposed models. The desynchronization of response times between the direct pathway and the indirect pathway leads to different symptoms of Parkinson's disease. Tremor appears when the response time in the indirect pathway increases at rest. The simulation confirmed that tremor occurs and the motor cortex is in an inhibited state. The direct pathway can increase the time delay in the dopaminergic pathway, which significantly increases the activity of the motor cortex. The hyperdirect pathway regulates the activity of the motor cortex. The simulation showed bradykinesia occurs when we switch from one movement to another that is less exciting for the motor cortex. A decrease of GABA in the striatum or delayed excitation of the substantia nigra from the subthalamus may be a major cause of Parkinson's disease. An increase in the response time delay in one of the pathways results in the chaotic movement characteristic of Huntington's disease.


Subject(s)
Huntington Disease , Motor Cortex , Parkinson Disease , Huntington Disease/physiopathology , Huntington Disease/metabolism , Humans , Parkinson Disease/physiopathology , Motor Cortex/physiopathology , Nonlinear Dynamics , Basal Ganglia/physiopathology , Models, Neurological , Models, Theoretical , Computer Simulation , Tremor/physiopathology
4.
Toxins (Basel) ; 16(9)2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39330850

ABSTRACT

BACKGROUND: Tremor is the most common movement disorder, with significant functional and psychosocial consequences. Oral medications have been disappointing or limited by side effects. Surgical techniques are effective but associated with risks and adverse events. Botulinum toxin (BT) represents a promising avenue but there is still no double-blind evidence of efficacy on upper limb function. A systematic review on the effects of BT in upper-limb tremor was conducted. METHODS: A systematic search of the literature was conducted up to July 2023, including the keywords "botulinum toxin" and "tremor". All randomized controlled trials (RCTs) and open-label studies were analyzed. Independent reviewers assessed their methodological quality. RESULTS: There were only eight published RCTs and seven published open-label studies, with relatively small sample sizes. This review suggests that BT is more effective when injections are patient-tailored, with analyses based on clinical judgement or kinematics. Subjective and objective measures frequently improve but transient weakness may occur after injections, especially if wrist or fingers extensors are targeted. A number of studies had methodological limitations. CONCLUSIONS: The authors discuss how to optimize tremor assessments and effects of BT injection. Controlled evidence is still lacking but it is suggested that distal "asymmetric" BT injections (targeting flexors/pronators while sparing extensors/supinators) and proximal injections, involving shoulder rotators when indicated, may avoid excessive weakness while optimizing functional benefit.


Subject(s)
Tremor , Upper Extremity , Humans , Tremor/drug therapy , Botulinum Toxins/therapeutic use , Botulinum Toxins/adverse effects , Neuromuscular Agents/therapeutic use , Neuromuscular Agents/adverse effects , Randomized Controlled Trials as Topic , Botulinum Toxins, Type A/therapeutic use , Botulinum Toxins, Type A/adverse effects , Botulinum Toxins, Type A/administration & dosage , Treatment Outcome
5.
Article in English | MEDLINE | ID: mdl-39346806

ABSTRACT

Background: KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in ANKRD11. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders. Case report: We report a 24-year-old patient harboring a pathogenic de novo ANKRD11 frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy. Discussion: Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. ANKRD11 pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.


Subject(s)
Repressor Proteins , Tremor , Humans , Tremor/genetics , Tremor/physiopathology , Young Adult , Repressor Proteins/genetics , Male , Intellectual Disability/genetics , Intellectual Disability/physiopathology , Facies , Frameshift Mutation , Microcephaly/genetics , Microcephaly/complications , Microcephaly/physiopathology , Tooth Abnormalities/genetics , Tooth Abnormalities/physiopathology , Bone Diseases, Developmental/genetics , Bone Diseases, Developmental/physiopathology , Bone Diseases, Developmental/complications , Bone Diseases, Developmental/diagnosis , Female , Abnormalities, Multiple
6.
Neurologia (Engl Ed) ; 39(7): 555-563, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39232593

ABSTRACT

INTRODUCTION: The cerebellar response has been studied for years with different models of alteration of other brain structures to understand its complex functioning and its relationship with the rest of the body. Studies in patients with Parkinson's disease (PD) showed that the cerebellar function is modified by deficit of the basal ganglia; which supports the hypothesis that both structures are related anatomically and functionally. METHODS: In our study, the ventrolateral striatum (VLS) of the basal ganglia was altered by an electrolytic lesion, in order to produce a similar jaw frequency of jaw tremor movements presented in parkinsonism, thereafter we analyzed the effect of the lesion on the expression of multiunit activity (MUA) of the cerebellum. RESULTS: We found cerebellar activation during mandibular movements and increment during oral jaw tremor movements. In addition, the amplitude of baseline MUA registered in animals with alteration of the VLS decreased with respect to the intact group. CONCLUSIONS: Accordingly, we conclude that cerebellar changes in MUA may be due to a decrease in the cerebellar inflectional or as a possible compensatory function between cerebellum and basal ganglia.


Subject(s)
Basal Ganglia , Cerebellum , Parkinsonian Disorders , Cerebellum/physiopathology , Basal Ganglia/physiopathology , Animals , Parkinsonian Disorders/physiopathology , Disease Models, Animal , Male , Tremor/physiopathology
7.
Neurology ; 103(7): e209879, 2024 Oct 08.
Article in English | MEDLINE | ID: mdl-39236269

ABSTRACT

Approaching patients with paraproteinemic neuropathies can be challenging for the practicing neurologist, and a well-defined strategy considering specific etiologies is necessary to arrive at the correct diagnosis. In this case, a 49-year-old man presented with a 2-year history of progressive upper then lower extremity numbness, weakness, gait instability, and tremors. His examination was marked by proximal and distal symmetric upper and lower extremity weakness, large more than small-fiber sensory loss, prominent sensory ataxia, action and postural tremors, and globally absent deep tendon reflexes. His workup was notable for a chronic demyelinating sensorimotor polyradiculoneuropathy and a monoclonal immunoglobulin (Ig) M kappa gammopathy. This case highlights the approach to a patient with a rare subtype of IgM paraproteinemic neuropathy with a review of the differential diagnoses, red flag features of co-occurring hematologic disorders, and guided workup. We further discuss typical features of this rare diagnosis and therapeutic options.


Subject(s)
Clinical Reasoning , Gait Disorders, Neurologic , Hypesthesia , Paraproteinemias , Tremor , Humans , Male , Middle Aged , Tremor/diagnosis , Tremor/etiology , Hypesthesia/etiology , Hypesthesia/diagnosis , Gait Disorders, Neurologic/etiology , Gait Disorders, Neurologic/diagnosis , Paraproteinemias/complications , Paraproteinemias/diagnosis , Diagnosis, Differential
8.
Neurosurg Focus ; 57(3): E5, 2024 09 01.
Article in English | MEDLINE | ID: mdl-39217637

ABSTRACT

MR-guided focused ultrasound (MRgFUS) has proven its efficacy and safety for the treatment of essential tremor (ET) and/or Parkinson's disease (PD). However, having a cardiac pacemaker has been considered an exclusion criterion for the use of MRgFUS. Only 2 patients with a cardiac pacemaker treated with MRgFUS have been previously reported, both treated using 1.5-T MRI. In this paper, the authors present their experience performing 3-T MRgFUS thalamotomy in 4 patients with an implanted cardiac pacemaker. Treatments were uneventful regarding complications or severe side effects. MRgFUS using 3-T MRI was found to be an efficient and safe treatment for ET and/or PD in patients with an MRI-compatible pacemaker.


Subject(s)
Essential Tremor , Magnetic Resonance Imaging , Pacemaker, Artificial , Thalamus , Humans , Thalamus/surgery , Thalamus/diagnostic imaging , Male , Aged , Female , Essential Tremor/surgery , Essential Tremor/diagnostic imaging , Magnetic Resonance Imaging/methods , Middle Aged , Tremor/surgery , Tremor/etiology , Tremor/diagnostic imaging , Parkinson Disease/surgery , Parkinson Disease/diagnostic imaging , Parkinson Disease/complications , Aged, 80 and over , High-Intensity Focused Ultrasound Ablation/methods
9.
Article in English | MEDLINE | ID: mdl-39220675

ABSTRACT

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.


Subject(s)
Deep Brain Stimulation , Essential Tremor , White Matter , Humans , Female , Male , Aged , Middle Aged , Essential Tremor/therapy , Essential Tremor/physiopathology , White Matter/diagnostic imaging , White Matter/pathology , Retrospective Studies , Dystonic Disorders/therapy , Dystonic Disorders/physiopathology , Dystonic Disorders/diagnostic imaging , Severity of Illness Index , Tremor/therapy , Tremor/physiopathology , Tremor/diagnostic imaging , Treatment Outcome
10.
Sci Rep ; 14(1): 20707, 2024 09 05.
Article in English | MEDLINE | ID: mdl-39237554

ABSTRACT

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the pervasive physical and cognitive effects of FXTAS, no studies have examined language in symptomatic males and females, limiting utility as an outcome measure in clinical trials of FXTAS. The goal of this work is to determine (a) the extent to which male and female FMR1 premutation carriers with FXTAS symptoms differ in their language use and (b) whether language production predicts FXTAS symptoms. Thirty-one individuals with the FMR1 premutation (21M, 10F), ages 58-85 years with some symptoms of FXTAS, were recruited from a larger cross-sectional study. Participants completed a five-minute monologic language sample. Language transcripts were assessed for rate of dysfluencies, lexical-semantics, syntax, and speech rate. Multivariable linear and ordinal regressions were used to predict FXTAS-associated symptoms, cognitive functioning, and executive functioning. Males and females did not differ in their language use. Language production predicted FXTAS symptom severity, cognitive functioning, and executive functioning. Language production difficulties may co-occur with FXTAS-associated symptoms and may be a viable outcome measure in future clinical trials, with future research needed.


Subject(s)
Ataxia , Fragile X Mental Retardation Protein , Fragile X Syndrome , Language , Tremor , Humans , Male , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Female , Tremor/genetics , Aged , Middle Aged , Ataxia/genetics , Aged, 80 and over , Cross-Sectional Studies , Cognition
11.
Sci Rep ; 14(1): 20708, 2024 09 05.
Article in English | MEDLINE | ID: mdl-39237644

ABSTRACT

This study aimed to develop and validate a multi-modality radiomics approach using T1-weighted and diffusion tensor imaging (DTI) to differentiate Parkinson's disease (PD) motor subtypes, specifically tremor-dominant (TD) and postural instability gait difficulty (PIGD), in early disease stages. We analyzed T1-weighted and DTI scans from 140 early-stage PD patients (70 TD, 70 PIGD) and 70 healthy controls from the Parkinson's Progression Markers Initiative database. Radiomics features were extracted from 16 brain regions of interest. After harmonization and feature selection, four machine learning classifiers were trained and evaluated for both three-class (HC vs TD vs PIGD) and binary (TD vs PIGD) classification tasks. The light gradient boosting machine (LGBM) classifier demonstrated the best overall performance. For the three-class classification, LGBM achieved an accuracy of 85% and an area under the receiver operating characteristic curve (AUC) of 0.94 using combined T1 and DTI features. In the binary classification task, LGBM reached an accuracy of 95% and AUC of 0.95. Key discriminative features were identified in the Thalamus, Amygdala, Hippocampus, and Substantia Nigra for the three-group classification, and in the Pallidum, Amygdala, Hippocampus, and Accumbens for binary classification. The combined T1 + DTI approach consistently outperformed single-modality classifications, with DTI alone showing particularly low performance (AUC 0.55-0.62) in binary classification. The high accuracy and AUC values suggest that this approach could significantly improve early diagnosis and subtyping of PD. These findings have important implications for clinical management, potentially enabling more personalized treatment strategies based on early, accurate subtype identification.


Subject(s)
Diffusion Tensor Imaging , Parkinson Disease , Humans , Parkinson Disease/diagnostic imaging , Diffusion Tensor Imaging/methods , Male , Female , Aged , Middle Aged , Machine Learning , Brain/diagnostic imaging , Brain/pathology , Magnetic Resonance Imaging/methods , ROC Curve , Tremor/diagnostic imaging , Radiomics
12.
Article in English | MEDLINE | ID: mdl-39222447

ABSTRACT

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.


Subject(s)
Electric Stimulation Therapy , Parkinson Disease , Tremor , Humans , Male , Female , Middle Aged , Tremor/therapy , Tremor/physiopathology , Aged , Parkinson Disease/therapy , Parkinson Disease/physiopathology , Electric Stimulation Therapy/methods , Essential Tremor/therapy , Essential Tremor/physiopathology , Wrist , Treatment Outcome
13.
Article in German | MEDLINE | ID: mdl-39173649

ABSTRACT

OBJECTIVE: The aim of this retrospective study was to decribe the intoxication with tremorgenic mycotoxins subsequent to the ingestion of walnuts in a large population of dogs and the evaluation of the development of the clinical signs under the initiated treatment. MATERIAL AND METHODS: The study included 54 dogs exhibiting signs of tremor, hyperesthesia, hyperthermia and ataxia, in particular a few hours following observed ingestion of walnuts or its justified suspicion. RESULTS: The patients were presented to the clinic mostly during winter and spring. Fifty-three of 54 dogs were hospitalized for symptomatic, decontaminating and eliminating therapy (98%). Symptomatic treatment comprised of anticonvulsant therapy in 14 dogs (26%) and an antiemetic therapy in for half of the patients (n=27; 50%). A forced emesis for decontamination was undertaken in only 6 patients due to the severity of their neurological symptoms (11%). For further decontamination, an oral administration of activated charcoal after improvement of clinical signs (n=39; 72%). The majority of dogs (n=45; 83%) additionally received an intravenous lipid therapy for toxin elimination and isotonic crystalloid solution to compensate fluid losses. There were no side effects observed following the administration of intravenous lipid therapy. The majority of dogs were hospitalized for a duration of 2 days (n=44; 81%). In most dogs, examination was unremarkable on the day of their release (n=39; 72%). Potential long-term sequelae of the intoxication were not recorded in any patient. CONCLUSION: Due to the lipophilic nature of mycotoxins, the use of intravenous lipid therapy may considered for toxin elimination purposes. The prognosis of mycotoxin intoxication following walnut ingestion is good with decontamination and elimination measures. CLINICAL RELEVANCE: In the case of unspecific neurological signs such as tremor, ataxia and hyperesthesia as well as a corresponding preliminary report, an intoxication with mycotoxin-containing walnuts should be considered.


Subject(s)
Dog Diseases , Juglans , Mycotoxins , Animals , Dogs , Dog Diseases/therapy , Dog Diseases/chemically induced , Retrospective Studies , Mycotoxins/poisoning , Mycotoxins/toxicity , Tremor/veterinary , Tremor/chemically induced , Tremor/therapy , Male , Female
14.
Article in English | MEDLINE | ID: mdl-39184972

ABSTRACT

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.


Subject(s)
Cerebellar Ataxia , Deep Brain Stimulation , Essential Tremor , Zona Incerta , Humans , Deep Brain Stimulation/methods , Male , Aged , Zona Incerta/physiopathology , Cerebellar Ataxia/therapy , Cerebellar Ataxia/physiopathology , Essential Tremor/therapy , Essential Tremor/physiopathology , Tremor/therapy , Tremor/physiopathology , Tremor/etiology
15.
Comput Biol Med ; 180: 108957, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39098236

ABSTRACT

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.


Subject(s)
Essential Tremor , Parkinson Disease , Humans , Parkinson Disease/physiopathology , Essential Tremor/physiopathology , Male , Female , Deep Learning , Aged , Middle Aged , Tremor/physiopathology
16.
Int J Mol Sci ; 25(15)2024 Jul 25.
Article in English | MEDLINE | ID: mdl-39125677

ABSTRACT

In this study, the potential role and interaction of the APOε and KLOTHO genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the premutation (PM) over 50 years, 165 with and 34 without an FXTAS diagnosis, were included in this study and were compared based on their APO (ε2-ε3-ε4) and KLOTHO variant (KL-VS) genotypes. The effect of APOε4 on FXTAS stage and on diagnosis did not differ significantly by KL-VS genotype with interaction effect p = 0.662 and p = 0.91, respectively. In the FXTAS individuals with an APOε2 allele, a marginal significance was observed towards a larger decline in verbal IQ (VIQ) in individuals with an APOε4 allele compared to those without an APOε4 allele (p = 0.071). In conclusion, our findings suggest that the APOε4 and KL-VS genotypes alone or through their interaction effect do not appear to predispose to either FXTAS diagnosis or stage in male carriers of the PM allele. A further study is needed to establish the trend of IQ decline in the FXTAS individuals who carry APOε4 with APOε2 compared to those without APOε4.


Subject(s)
Ataxia , Fragile X Syndrome , Glucuronidase , Klotho Proteins , Tremor , Aged , Aged, 80 and over , Humans , Male , Middle Aged , Alleles , Apolipoproteins E/genetics , Ataxia/genetics , Fragile X Syndrome/genetics , Genetic Predisposition to Disease , Genotype , Glucuronidase/genetics , Penetrance , Tremor/genetics
17.
Clin Neurol Neurosurg ; 245: 108492, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39146723

ABSTRACT

OBJECTIVE: Although previous studies have described phenomenological diagnoses, they lacked description of aetiological spectrum in patients visiting movement disorders (MD) service. Herein, we classify the MD phenomenology and describe aetiology wise distribution of each phenomenology in patients visiting a tertiary care movement disorders service. METHODS: Collected information included demographic profile (age of onset, age at presentation, gender, duration of illness before presentation), predominant MD phenomenology [such as parkinsonism, dystonia, ataxia, tremor, chorea, ballism, myoclonus, tics, stereotypy, restless legs syndrome (RLS) and others], diagnostic evaluations and detected aetiology. RESULTS: This observational study included 1140 MD patients over a span of 5 years. The median (IQR) age of onset was 49 (35-60) years and age at presentation was 54 (40-65) years, with median duration of illness being 36 (18-72) months. Nearly two-third of patients were males (M:F=731:409). Parkinsonism (n=494, 43.3 %) was the most common MD phenomenology observed, followed by dystonia (n=219, 19.2 %), ataxia (n=125, 11 %), tremor (n=118, 10.4 %), myoclonus (n=73, 6.4 %), chorea (n=40, 3.5 %), spasticity (n=22, 1.9 %), tics (n=8, 0.7 %), and RLS (n=8, 0.7 %). Thirty-three (2.9 %) patients were grouped under miscellaneous MDs. Overall, neurodegenerative disorders (57.4 %) were the most common cause of MDs. Parkinson's disease, genetic dystonia, essential tremor, genetic ataxias, hemifacial spasm, and Huntington's disease were the most common aetiologies for parkinsonism, dystonia, tremor, ataxia, myoclonus, and chorea, respectively. CONCLUSION: Parkinsonism was the most common phenomenology observed in MD patients, and was followed by dystonia, ataxia and tremor. Neurodegenerative disorders were the most common aetiology detected.


Subject(s)
Movement Disorders , Humans , Male , Middle Aged , Female , India/epidemiology , Adult , Aged , Parkinsonian Disorders/epidemiology , Tertiary Healthcare , Dystonia/etiology , Myoclonus/etiology , Myoclonus/physiopathology , Tremor/etiology
18.
J Assoc Physicians India ; 72(8): 90-92, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39163077

ABSTRACT

BACKGROUND: Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. Two types of PTs-essential palatal tremor (EPT) and symptomatic palatal tremor (SPT) are described. SPT is caused by a lesion in the triangle of Guillain and Mollaret which is formed by the ipsilateral red nucleus, ipsilateral inferior olivary nucleus and contralateral dentate nuclei. EPT reveals no underlying structural pathology. We describe two consecutive patients with PT-a rare clinical sign in a rare distinct clinical entity cerebrotendinous xanthomatosis (CTX) which is an autosomal recessive neurometabolic disorder characterized by a myriad of neurological signs of progressive ataxia, parkinsonian features pyramidal signs, epilepsy; peripheral neuropathy, and nonneurological features of early cataract, xanthomas and infantile-onset diarrhea. These cases emphasize the expanding phenotype of CTX featuring PTs and suggest that this clinical sign is underdiagnosed in CTX.


Subject(s)
Tremor , Xanthomatosis, Cerebrotendinous , Humans , Tremor/etiology , Tremor/diagnosis , Xanthomatosis, Cerebrotendinous/diagnosis , Xanthomatosis, Cerebrotendinous/complications , Male , Female , Palate, Soft , Magnetic Resonance Imaging/methods
19.
Sensors (Basel) ; 24(16)2024 Aug 21.
Article in English | MEDLINE | ID: mdl-39205099

ABSTRACT

Tremor is a prevalent neurological disorder characterized by involuntary shaking or trembling of body parts. This condition impairs fine motor skills and hand coordination to varying degrees and can even affect overall body mobility. As a result, tremors severely disrupt the daily lives and work of those affected, significantly limiting their physical activity space. This study developed an innovative spatial augmented reality (SAR) system aimed at assisting individuals with tremor disorders to overcome their physical limitations and expand their range of activities. The system integrates eye-tracking and Internet of Things (IoT) technologies, enabling users to smoothly control objects in the real world through eye movements. It uses a virtual stabilization algorithm for stable interaction with objects in the real environment. The study comprehensively evaluated the system's performance through three experiments: (1) assessing the effectiveness of the virtual stabilization algorithm in enhancing the system's ability to assist individuals with tremors in stable and efficient interaction with remote objects, (2) evaluating the system's fluidity and stability in performing complex interactive tasks, and (3) investigating the precision and efficiency of the system in remote interactions within complex physical environments. The results demonstrated that the system significantly improves the stability and efficiency of interactions between individuals with tremor and remote objects, reduces operational errors, and enhances the accuracy and communication efficiency of interactions.


Subject(s)
Algorithms , Augmented Reality , Tremor , Humans , Tremor/physiopathology , Male , Female , Adult , Middle Aged , User-Computer Interface , Eye Movements/physiology , Aged
20.
Int J Med Robot ; 20(4): e2666, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39092625

ABSTRACT

BACKGROUND: During a robot-assisted minimally invasive surgery, hand tremors in a surgeon's manipulation of the master manipulator can cause vibrations of the slave surgical instruments. METHODS: This letter addresses this problem by proposing an improved Enhanced Band-Limited Multiple Linear Fourier Combiner (E-BMFLC) algorithm for filtering the physiological tremor signals of a surgeon's hand. The proposed method uses the amplitude of the input signal to adapt the learning rate and a dense division of the combiner bands for the higher amplitude bands of the tremor signals. RESULTS: By using the proposed improved E-BMFLC algorithm, the compensation accuracy can be improved by 4.5%-8.9%, as well as a spatial position error of less than 1 mm. CONCLUSION: The results show that among all filtering methods, the improved E-BMFLC filtering method has the highest number of successful experiments and the lowest experimental time.


Subject(s)
Algorithms , Fourier Analysis , Robotic Surgical Procedures , Tremor , Robotic Surgical Procedures/methods , Humans , Tremor/surgery , Hand/surgery , Minimally Invasive Surgical Procedures/methods , Signal Processing, Computer-Assisted , Reproducibility of Results , Surgery, Computer-Assisted/methods , Vibration
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