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2.
Front Immunol ; 15: 1308068, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38524138

RESUMO

Background: Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria. Methods: A 25-year-old man was admitted to our hospital due to progressive dysarthria with limb tremors. The patient was initially diagnosed with peripheral neuropathy at a local hospital. Three years after onset, he was admitted to our hospital due to dysarthria, apparent limb tremor, and limb weakness. At that time, he was diagnosed with spinocerebellar ataxia. Eight years post-onset, during his second admission, his condition had notably deteriorated. His dysarthria had evolved to typical distinctive cerebellar characteristics, such as tremor, loud voice, stress, and interrupted articulation. Additionally, he experienced further progression in limb weakness and developed muscle atrophy in the distal limbs. Magnetic resonance imaging (MRI), nerve conduction studies (NCS), and autoimmune antibody tests were performed. Results: The results of the NCS suggested severe demyelination and even axonal damage to the peripheral nerves. MRI scans revealed diffuse thickening of bilateral cervical nerve roots, lumbosacral nerve roots, cauda equina nerve, and multiple intercostal nerve root sheath cysts. Furthermore, anti-CNTN1 antibody titers were 1:10 in the cerebrospinal fluid (CSF) and 1:100 in the serum. After one round of rituximab treatment, the patient showed significant improvement in limb weakness and dysarthria, and the CSF antibodies turned negative. Conclusion: Apart from peripheral neuropathies, cerebellar dysarthria (central nervous system involvement) should not be ignored in AN patients with CNTN1 antibodies.


Assuntos
Disartria , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Masculino , Humanos , Adulto , Disartria/complicações , Tremor/complicações , Contactina 1 , Ataxia
3.
Indian J Pharmacol ; 56(1): 52-54, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38454589

RESUMO

We hereby describe a rare case of levosulpiride-induced atypical parkinsonism presenting with sluggish movements, atypical kinetic tremors (tremors with voluntary movement), periorbital tremors, dystonia, difficulty in speech and coordination, postural imbalance, with additional features of difficulty in swallowing and drooling with associated recent onset psychiatric disturbances such as anxiety and low-lying depression. The dechallenge of levosulpiride and medications for associated anxiety and low-lying depression caused a complete remission of the disease within 2 ½ months.


Assuntos
Depressão , Sulpirida/análogos & derivados , Tremor , Humanos , Tremor/induzido quimicamente , Rabeprazol/efeitos adversos , Depressão/induzido quimicamente , Depressão/tratamento farmacológico , Ansiedade , Combinação de Medicamentos
5.
Artigo em Inglês | MEDLINE | ID: mdl-38434715

RESUMO

Background: Jaw clonus refers to involuntary, rhythmic jaw contractions induced by a hyperactive trigeminal nerve stretch reflex; however, the movements, when triggered without a stretch, can be confused with a tremor. Phenomenology Shown: This video demonstrates a patient with amyotrophic lateral sclerosis presenting with rapid rhythmic jaw movements seen at rest, alongside a power spectrum analysis revealing a narrow high-frequency peak of 10 Hz. Educational Value: Rhythmic jaw movements are seen in many disorders such as Parkinson's disease, essential tremor, tardive syndromes, and cranial myorhythmias; however, a high-frequency movement, regardless of clonus or tremor, can indicate amyotrophic lateral sclerosis when accompanied by typical upper and lower motor neuron signs. Highlights: The presented video abstract shows a patient with amyotrophic lateral sclerosis with rhythmic jaw movements seen at rest. A power spectrum analysis of the rhythmic movements revealed a 10 Hz peak, a frequency higher than those seen in patients with Parkinson's disease, essential tremor, myorhythmia, and tardive syndromes.


Assuntos
Esclerose Amiotrófica Lateral , Tremor Essencial , Doença de Parkinson , Humanos , Tremor/etiologia , Tremor Essencial/diagnóstico , Esclerose Amiotrófica Lateral/complicações , Movimento , Reflexo Anormal
6.
Artigo em Inglês | MEDLINE | ID: mdl-38442043

RESUMO

OBJECTIVE: A pathological tremor (PT) is an involuntary rhythmic movement of varying frequency and amplitude that affects voluntary motion, thus compromising individuals' independence. A comprehensive model incorporating PT's physiological and biomechanical aspects can enhance our understanding of the disorder and provide valuable insights for therapeutic approaches. This study aims to build a biomechanical model of pathological tremors using OpenSim's realistic musculoskeletal representation of the human wrist with two degrees of freedom. METHODS: We implemented a Matlab/OpenSim interface for a forward dynamics simulation, which allows for the modeling, simulation, and design of a physiological H∞ closed-loop control. This system replicates pathological tremors similar to those observed in patients when their arm is extended forward, the wrist is pronated, and the hand is subject to gravity forces. The model was individually tuned to five subjects (four Parkinson's disease patients and one diagnosed with essential tremor), each exhibiting distinct tremor characteristics measured by an inertial sensor and surface EMG electrodes. Simulation agreement with the experiments for EMGs, central frequency, joint angles, and angular velocities were evaluated by Jensen-Shannon divergence, histogram centroid error, and histogram intersection. RESULTS: The model emulated individual tremor statistical characteristics, including muscle activations, frequency, variability, and wrist kinematics, with greater accuracy for the four Parkinson's patients than the essential tremor. CONCLUSION: The proposed model replicated the main statistical features of subject-specific wrist tremor kinematics. SIGNIFICANCE: Our methodology may facilitate the design of patient-specific rehabilitation devices for tremor suppression, such as neural prostheses and electromechanical orthoses.


Assuntos
Discinesias , Tremor Essencial , Doença de Parkinson , Humanos , Tremor , Punho/fisiologia , Articulação do Punho , Fenômenos Biomecânicos
7.
Artigo em Inglês | MEDLINE | ID: mdl-38464913

RESUMO

Background: The wing-beating tremor, characteristic of Wilson's disease (WD), is a disabling symptom that can be resistant to anti-copper and anti-tremor medications. Phenomenology Shown: This video illustrates severe bilateral wing-beating tremor, moderate head and lower limb tremors, mild cervical dystonia, and subtle cerebellar ataxia, with nearly resolution after penicillamine treatment. Educational Value: This case highlights a typical aspect of WD, emphasizing the importance of early detection and treatment, and its correlation with MRI findings. Highlights: This case highlights the typical wing-beating tremor in Wilson's disease and its correlation with the involvement of the dentato-rubro-thalamic pathway. The early diagnosis and initiation of treatment with penicillamine resulted in an excellent clinical and radiological response.


Assuntos
Degeneração Hepatolenticular , Penicilamina , Humanos , Cobre/farmacologia , Degeneração Hepatolenticular/diagnóstico por imagem , Degeneração Hepatolenticular/tratamento farmacológico , Imageamento por Ressonância Magnética , Penicilamina/uso terapêutico , Tremor/diagnóstico por imagem , Tremor/tratamento farmacológico , Tremor/etiologia
8.
BMJ Case Rep ; 17(3)2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38453230

RESUMO

Tizanidine, an α2-adrenergic receptor agonist commonly prescribed as a muscle relaxant, has been associated with limited cases of acute intoxication or withdrawal. Here, we present a case of tizanidine withdrawal in a woman in her 40s who presented with an unusual combination of systemic and neurological symptoms. These included hallucinations, decorticate posture, limb and eyelid tremors, along with hypertension, tachycardia and tachypnoea. The diagnosis of tizanidine withdrawal was established by a comprehensive assessment of the patient's medical history and the systematic exclusion of other potential diseases. Our approach to managing the withdrawal symptoms was to initiate symptomatic treatment with a combination of a beta-blocker and a calcium channel blocker. Remarkably, this intervention successfully resolved both vital signs and neurological manifestations by the following day. In conclusion, tizanidine withdrawal is associated with a distinct and diagnostically significant neurological syndrome characterised by hallucinations, decorticate posture, tremors and hypersympathetic vital signs.


Assuntos
Clonidina , Síndrome de Abstinência a Substâncias , Tremor , Feminino , Humanos , Clonidina/análogos & derivados , Alucinações , Postura , Tremor/induzido quimicamente , Tremor/diagnóstico , Sinais Vitais , Adulto , Pessoa de Meia-Idade
9.
Croat Med J ; 65(1): 59-64, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38433513

RESUMO

Tremor refractory to pharmacological therapy significantly reduces the patient´s quality of life, often leading to early retirement and social isolation. Gamma knife (GK) stereotactic radiosurgery of the unilateral thalamic ventral intermediate nucleus is an advanced, minimally invasive surgical procedure for symptomatic tremor suppression. Due to the restricted availability of this type of treatment, literature data on its efficacy and safety are lacking. We present two patients with severe, disabling tremor (one with parkinsonian and one with essential tremor) successfully treated with GK thalamotomy, performed in Croatia for the first time. GK thalamotomy should be considered in patients with refractory tremors and contraindications for deep brain stimulation.


Assuntos
Radiocirurgia , Tremor , Humanos , Tremor/cirurgia , Croácia , Qualidade de Vida
10.
Neurosurg Rev ; 47(1): 122, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38502283

RESUMO

This letter to the editor critiques a recent study evaluating the role of biologically effective dose (BED) in stereotactic radiosurgical thalamotomy for essential tremor (ET). The study, conducted retrospectively on 78 ET patients, demonstrates a significant correlation between BED and tremor improvement post-SRS. Moreover, the study suggests adjusting the prescribed dose rather than changing cobalt-60 sources to maintain treatment efficacy while minimizing toxicity. This suggestion aligns with previous research indicating an annual decrease in BED due to cobalt-60 decay. The letter emphasizes the importance of considering BED and cobalt-60 decay in optimizing treatment outcomes for ET patients undergoing stereotactic radiosurgery. Further research is recommended to explore innovative techniques for dose modulation in response to cobalt-60 decay and validate findings in larger cohorts.


Assuntos
Radioisótopos de Cobalto , Tremor Essencial , Radiocirurgia , Humanos , Tremor/cirurgia , Tremor Essencial/cirurgia , Radiocirurgia/métodos , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Resultado do Tratamento
11.
Neurology ; 102(8): e209296, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38507676

RESUMO

A 35-year-old woman with a progressive, bilateral upper limb tremor, personality change, behavioral disturbance, and primary ovarian insufficiency was found to have AARS2-related leukodystrophy. She had congenital nystagmus which evolved to head titubation by age 8 years and then developed an upper limb tremor in her mid-teens. These symptoms stabilized during her 20s, but soon after this presentation at age 35 years, neurologic and behavioral disturbances progressed rapidly over a 12-month period requiring transition to an assisted living facility with care support (4 visits/day) and assistance for all activities of daily living. MRI of the brain demonstrated confluent white matter changes predominantly involving the frontal lobes consistent with a leukodystrophy. All other investigations were unremarkable. Nongenetic causes of a leukodystrophy including sexually transmitted diseases and recreational drug use were excluded. Family history was negative for similar symptoms. Gene panel testing identified compound heterozygous pathogenic AARS2 mutations. This case highlights the importance of MRI brain imaging in progressive tremor syndromes, the utility of gene panels in simultaneous testing of multiple disorders with overlapping phenotypes, and the need for awareness of comorbid endocrinological disorders in many of the genetic leukodystrophies, whose identification may aid in clinical diagnosis.


Assuntos
Doenças Desmielinizantes , Leucoencefalopatias , Doenças Neurodegenerativas , Humanos , Feminino , Adolescente , Adulto , Criança , Tremor/genética , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Atividades Cotidianas , Mutação , Encéfalo/diagnóstico por imagem , Encéfalo/patologia
13.
Artigo em Inglês | MEDLINE | ID: mdl-38464914

RESUMO

Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the L2HGDH gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at L2HGDH gene and clinical response to vitamin supplements and levocarnitine. Case report: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor. Her brain MRI showed typical findings of L2HGA. The diagnosis was corroborated with elevated levels of 2-hydroxyglutaric acid in urine and genetic test which revealed a homozygous genetic known variant c.569C>T in exon 5 of L2HGDH gene. She was treated with levocarnitine and vitamin supplements, showing improvement in tremor and gait. Discussion: To our knowledge this is the first report of a Mexican patient with L2HGA. This case adds information about a rare condition in a different ethnic group and supports the findings of other authors which encountered symptomatic improvement with the use of flavin adenine dinucleotide (and its precursor riboflavin), and levocarnitine. Highlights: We report the first case of Mexican-Mayan patient with L2HGA showing a missense homozygous mutation in L2HGDH gene, and improvement of symptoms with vitamin supplements and levocarnitine.


Assuntos
Encefalopatias Metabólicas Congênitas , Carnitina , Tremor , Humanos , Feminino , Adolescente , Mutação/genética , Vitaminas , Oxirredutases do Álcool/genética
14.
Adv Neurobiol ; 36: 571-583, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38468054

RESUMO

Self-similar stochastic processes and broad probability distributions are ubiquitous in nature and in many man-made systems. The brain is a particularly interesting example of (natural) complex system where those features play a pivotal role. In fact, the controversial yet experimentally validated "criticality hypothesis" explaining the functioning of the brain implies the presence of scaling laws for correlations. Recently, we have analyzed a collection of rest tremor velocity signals recorded from patients affected by Parkinson's disease, with the aim of determining and hence exploiting the presence of scaling laws. Our results show that multiple scaling laws are required in order to describe the dynamics of such signals, stressing the complexity of the underlying generating mechanism. We successively extracted numeric features by using the multifractal detrended fluctuation analysis procedure. We found that such features can be effective for discriminating classes of signals recorded in different experimental conditions. Notably, we show that the use of medication (L-DOPA) can be recognized with high accuracy.


Assuntos
Doença de Parkinson , Tremor , Humanos , Levodopa/uso terapêutico , Encéfalo
15.
Rinsho Shinkeigaku ; 64(3): 185-189, 2024 Mar 22.
Artigo em Japonês | MEDLINE | ID: mdl-38382934

RESUMO

A 71-year-old male who suffered from Hoehn and Yahr stage III Parkinson's disease with bradykinesia, rigidity and a 5-6-Hz tremor at rest in the right extremities was admitted to our hospital due to the sudden onset of vertigo. Right cerebellar hemorrhage was confirmed by CT. The patient's resting tremor in the right extremities disappeared immediately following the cerebellar hemorrhage. Six days later, MRI showed Wallerian degeneration in the cerebello-rubro-thalamic tract. Approximately 5 months later, a 2-3-Hz Holmes' tremor gradually appeared in the right upper extremity. This tremor was improved by increasing L-dopa doses. Case reports of the disappearance of Parkinson's resting tremor and subsequent emergence of Holmes' tremor due to cerebellar lesion are rare. Furthermore, the Wallerian degeneration of the cerebello-rubro-thalamic tract identified on MRI between tremors of the different frequencies is very rare. We hypothesize that the cause of the tremor frequency change was simultaneous damage to the nigro-striatal network and the cerebello-thalamo-cerebral network.


Assuntos
Doença de Parkinson , Tremor , Masculino , Humanos , Idoso , Tremor/etiologia , Doença de Parkinson/complicações , Doença de Parkinson/patologia , Degeneração Walleriana/patologia , Tálamo/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia
16.
Sleep Med ; 115: 174-176, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38367359

RESUMO

BACKGROUND: Restless legs syndrome (RLS) has an increased estimated prevalence in patients with Parkinson's disease (PS). RLS frequently mimics symptoms intrinsic to PD, such as motor restlessness, contributing to making its diagnosis challenging in this population. We report the case of a patient with new-onset RLS following subthalamic deep-brain stimulation (DBS-STN). We assessed symptoms using suggested immobilization test (SIT) with both DBS-STN activated and switched off. CASE DESCRIPTION: A 59-year-old man with idiopathic PD developed disabling RLS following DBS-STN at age 58, with PD onset at 50 manifesting as left arm tremor. Despite improved motor symptoms during the month following surgery, the patient experienced left leg discomfort at rest, transiently alleviated by movements due to an irrepressible urge to move, and worsened at night. Symptoms had no temporal relationship with oral dopa-therapy and disappeared when DBS-STN was deactivated. A 1 h SIT assessed motor behavior with irrepressible urge to move, as well as sensory symptoms by visual analog scale. After 30 m DBS-STN was switched off followed by the appearance of tremor in the left arm while both motor and sensory symptoms of RLS disappeared in the left leg. DISCUSSION: The mechanisms of DBS-STN's impact on RLS remain controversial. We hypothesize the DBS-STN to induce in our patient a hyperdopaminergic tone. DBS-induced and DBS-ameliorated RLS represent interesting conditions to further understand the pathophysiology of RLS. Moreover, the present observation suggests that SIT can be a valuable tool to assess RLS in PD patients before and after DBS-STN in future prospective studies.


Assuntos
Estimulação Encefálica Profunda , Doença de Parkinson , Síndrome das Pernas Inquietas , Núcleo Subtalâmico , Masculino , Humanos , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Doença de Parkinson/diagnóstico , Tremor/etiologia , Tremor/terapia , Estimulação Encefálica Profunda/efeitos adversos , Núcleo Subtalâmico/fisiologia
17.
J Rehabil Med ; 56: jrm19495, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38407431

RESUMO

OBJECTIVES: Parkinson's disease is characterized by motor and non-motor symptoms. Tremor is one of the motor symptoms that can affect manual skills and have an impact on daily activities. The aim of the current study is to investigate the effect of upper limb training provided by a specific vibratory device (Armshake®, Move It GmbH - Bochum, Germany) on tremor and motor functionality in patients with Parkinson's disease. Furthermore, the training effect on global cognitive functioning is assessed. DESIGN: An uncontrolled before-after clinical trial. PATIENTS: Individuals with diagnosis of Parkinson's disease, motor upper limbs deficits, and absence of dementia. METHODS: Participants underwent a 3-week programme (3 times a week) and was evaluated before, after, and at 1 month follow-up by motor (Fahn Tolosa Marin Tremor Rating Scale, Unified Parkinson's Disease Rating Scale - part III, Purdue Pegboard Test, Disability of the Arm, Shoulder and Hand Questionnaire) and cognitive (Montreal Cognitive Assessment) scales. RESULTS: Twenty subjects are included. After treatment a statistically significant improvement in tremor, manual dexterity and activities of daily living was found. The data indicated no effects on global cognitive functioning. CONCLUSION: These findings suggest positive effects of vibratory stimulation training on upper limb motor symptoms in Parkinson's disease.


Assuntos
Doença de Parkinson , Humanos , Atividades Cotidianas , Doença de Parkinson/terapia , Modalidades de Fisioterapia , Tremor/etiologia , Tremor/terapia , Extremidade Superior
18.
Artigo em Inglês | MEDLINE | ID: mdl-38344215

RESUMO

Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy. Phenomenology Shown: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease. Educational Value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy. Highlights: This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.


Assuntos
Doença de Charcot-Marie-Tooth , Pé Cavo , Humanos , Doença de Charcot-Marie-Tooth/genética , Tremor/etiologia , Marcha Atáxica/etiologia , Reflexo Anormal , Tendões
20.
Medicine (Baltimore) ; 103(5): e37099, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38306527

RESUMO

RATIONALE: Wilson disease is a rare genetic disorder primarily associated with hepatic symptoms; however, its unique neurological presentation remains a subject of interest in the medical literature. This case report contributes to existing knowledge by highlighting the unusual manifestation of Wilson disease with significant neurological symptoms. PATIENT CONCERNS: The patient, pseudonym John Smith, presented with prominent neurological symptoms, including tremors, dystonia, and psychiatric manifestations. Clinical findings corroborated copper accumulation in the brain, prompting a thorough diagnostic investigation. DIAGNOSES: Genetic analysis revealed two ATP7B mutations, confirming the primary diagnosis of Wilson disease. This case underscores the importance of recognizing atypical neurological presentations in the context of this rare genetic disorder. INTERVENTIONS: Chelation therapy, initiated promptly upon diagnosis, targeted copper overload. The intervention led to notable improvements in neurological symptoms and psychiatric manifestations. The dosage and duration of treatment were adjusted based on regular monitoring. OUTCOMES: Regular follow-up revealed a positive trajectory, with reduced tremors and improved overall well-being. Genetic testing, coupled with clinical assessments, contributed to monitoring treatment efficacy and optimizing therapeutic interventions. LESSONS: The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.


Assuntos
Degeneração Hepatolenticular , Humanos , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Tremor/etiologia , Cobre , Testes Genéticos
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