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Opsoclonus–myoclonus syndrome in adults is a rare and heterogeneous disorder with the clinical features of opsoclonus, myoclonus, ataxia, and behavioral and sleep disturbances. The pathophysiology is thought to be immunological on the basis of paraneoplastic or infectious etiologies. Immunomodulatory therapies should be performed although the response may be incomplete. A number of autoantibodies have been identified against a variety of antigens, but no diagnostic immunological marker has yet been identified. This review focuses on underlying mechanisms of opsoclonus–myoclonus syndrome, including findings that have been identified recently, and provides an update on the clinical features and treatments of this condition.

Background and Objectives: Myoclonus is already associated with a wide variety of drugs and systemic conditions. As new components are discovered, more drugs are suspected of causing this disabling abnormal involuntary movement. This systematic review aims to assess the medications associated with drug-induced myoclonus (DIM). Materials and Methods: Two reviewers assessed the PubMed database using the search term “myoclonus”, without language restriction, for articles published between 1955 and 2024. The medications found were divided into classes and sub-classes, and the subclasses were graded according to their level of evidence. Results: From 12,097 results, 1115 were found to be DIM. The subclasses of medications with level A evidence were intravenous anesthetics (etomidate), cephalosporins (ceftazidime, cefepime), fluoroquinolones (ciprofloxacin), selective serotonin reuptake inhibitors (citalopram, escitalopram, paroxetine, sertraline), tricyclic antidepressant (amitriptyline), glutamate antagonist (amantadine), atypical antipsychotics (clozapine, quetiapine), antiseizure medications (carbamazepine, oxcarbazepine, phenytoin, gabapentin, pregabalin, valproate), pure opioid agonist (fentanyl, morphine), bismuth salts, and mood stabilizers (lithium). The single medication with the highest number of reports was etomidate. Drug-induced asterixis is associated with a specific list of medications. The neurotransmitters likely involved in DIM are serotonin, dopamine, gamma-aminobutyric acid (GABA), and glutamate. Conclusions: DIM may be reversible with management that can include drug discontinuation, dose adjustment, and the prescription of a medication used to treat idiopathic myoclonus. Based on the main clinical constellation of symptoms and pathophysiological mechanisms found in this study, DIM can be categorized into three types: type 1 (serotonin syndrome), type 2 (non-serotonin syndrome), and type 3 (unknown).

To outline the long-term neuropsychological profile of a pediatric cohort with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS), and evaluate whether volumetric brain abnormalities correlate with clinical findings years after onset. Twelve patients diagnosed with OMAS between 2008 and 2020 (6 males, mean age 9.6 years, median follow-up 5.4 years) underwent a videorecorded neurological examination and a standardized cognitive and neuropsychological assessment. Patients and 12 age-matched controls underwent advanced 3-Tesla brain MRI studies. Voxel-Based Morphometry (VBM) and targeted cerebellar evaluation using ACAPULCO and ENIGMA pipelines were performed. The results were correlated with neuropsychological scores. Nine subjects (75%) had abnormal neurological findings (dysmetria n  = 7, balance deficit n  = 7, and speech impairment n  = 6). The mean Full-Scale IQ was 76, with borderline IQ in 2 cases, intellectual disability in 5, visuospatial processing impairments in 6, and affective and internalizing issues in 7. Brain MRI and VBM showed mild cerebellar atrophy (41.6%), especially in Crus I-II, IV, VIIIa and VIIb lobules. Reduced gray matter volumes were noted in the precentral, inferior-occipital and middle orbitofrontal gyrus, while larger volumes were found in the ventral diencephalon fusiform and inferior temporal gyri. Lower white matter volumes were found in the cerebellum, superior frontal gyrus, midbrain, postcentral and precentral gyri. Patients with lower cognitive scores, especially in Working Memory and Processing Speed, had smaller volumes in several cerebellar lobules ( p  = 0.001). Smaller cerebellar volumes correlate with lower cognitive scores at long-term follow-up, confirming not only the role of the cerebellum in the pathogenesis of OMAS, but also its role in cognitive functioning.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder characterized by rigidity, painful spasms, hyperekplexia, brainstem involvement, and autonomic dysfunction. In China, limited awareness and delayed antibody testing often hinder early diagnosis. Here, we report four cases of PERM, three of which required intensive care unit (ICU) admission. The clinical and immunological features of these patients were systematically summarized. This case series highlights the characteristic clinical and immunological profiles of PERM and underscores the importance of early recognition and timely intervention, as most patients achieve substantial recovery with immunosuppressive therapy.

A wide variety of drugs can cause myoclonus. To illustrate this, we first discuss two personally observed cases, one presenting with generalized, but facial-predominant, myoclonus that was induced by amantadine; and the other presenting with propriospinal myoclonus triggered by an antibiotic. We then review the literature on drugs that may cause myoclonus, extracting the corresponding clinical phenotype and suggested underlying pathophysiology. The most frequently reported classes of drugs causing myoclonus include opiates, antidepressants, antipsychotics, and antibiotics. The distribution of myoclonus ranges from focal to generalized, even amongst patients using the same drug, which suggests various neuro-anatomical generators. Possible underlying pathophysiological alterations involve serotonin, dopamine, GABA, and glutamate-related processes at various levels of the neuraxis. The high number of cases of drug-induced myoclonus, together with their reported heterogeneous clinical characteristics, underscores the importance of considering drugs as a possible cause of myoclonus, regardless of its clinical characteristics.

Purpose This study aims to screen immune metabolism‐associated biomarkers for pediatric opsoclonus myoclonus ataxia syndrome (OMAS) in neuroblastoma. Methods Immune metabolism–related genes were retrieved from the GeneCards database. The differentially expressed immune metabolism–related genes in OMAS were identified by bioinformatics, immune infiltration, and WGCNA analyses. The diagnostic genes were screened by three machine learning algorithms and validated by ROC curve and nomogram model. Correlation between diagnostic genes and differential immune infiltrated cells, GSEA, and drug chemistry small‐molecule analyses was performed. Lastly, validation was performed in eight paired clinical samples. Results Total 162 differentially immune metabolism–related genes were obtained. Four diagnostic genes were selected by machine learning methods. The predictive accuracy of biomarker genes for OMAS was determined by nomograms and calibration curves. The targeted drugs for the four diagnostic genes contained bardoxolone methyl, alogliptin, and teneligliptin. Finally, clinical validation showed TRAF3IP2, DPP4, and RIPK1 upregulation and KEAP1 downregulation, consistent with bioinformatics analysis. The predictive accuracy of biomarkers was validated by ROC curve in clinical samples. Conclusion Four immune metabolism–associated diagnostic genes were identified, including TRAF3IP2, RIPK1, KEAP1, and DPP4 for OMAS. Based on the GEO database and GeneCards database, 1785 immune metabolism genes, 1879 DEGs, and 1560 module genes were screened out. After taking the intersection, 162 differential immune metabolic–related genes were obtained. Four diagnostic biomarker genes, TRAF3IP2, RIPK1, KEAP1, and DPP4, were screened out through three machine learning algorithms and verified by ROC curve and nomogram model. Finally, clinical validation demonstrated that compared with the control group, DPP4, RIPK1, and TRAF3IP2 in the OMAS group were significantly upregulated at the mRNA and protein levels, while KEAP1 was significantly downregulated, which was consistent with the bioinformatics analysis. The ROC curve in clinical samples verified the predictive accuracy of the biomarkers.

Opsoclonus-myoclonus-ataxia syndrome is a heterogeneous constellation of symptoms ranging from full combination of these three neurological findings to varying degrees of isolated individual sign. Since the emergence of coronavirus disease 2019 (COVID-19), neurological symptoms, syndromes, and complications associated with this multi-organ viral infection have been reported and the various aspects of neurological involvement are increasingly uncovered. As a neuro-inflammatory disorder, one would expect to observe opsoclonus-myoclonus syndrome after a prevalent viral infection in a pandemic scale, as it has been the case for many other neuro-inflammatory syndromes. We report seven cases of opsoclonus-myoclonus syndrome presumably parainfectious in nature and discuss their phenomenology, their possible pathophysiological relationship to COVID-19, and diagnostic and treatment strategy in each case. Finally, we review the relevant data in the literature regarding the opsoclonus-myoclonus syndrome and possible similar cases associated with COVID-19 and its diagnostic importance for clinicians in various fields of medicine encountering COVID-19 patients and its complications.

Objectives Periodic limb movement disorder (PLMD) involves periodic, stereotypic movements of upper/lower extremities during sleep. Propriospinal myoclonus (PSM) involves repetitive, irregular, myoclonic jerks starting in the midthoracic region and propagating to adjacent segments through propriospinal pathways. Limited evidence exists for interventional modalities. This report discusses the utility of stellate ganglion block (SBG) for PLMD. Methods A review of one patient record who underwent SGB for PLMD. Results We present a case of successful treatment of refractory PLMD with SGB. Discussion This case demonstrates complicated PLMD that was refractory to numerous treatment modalities. However, SGB was shown to significantly improve the patient’s painful nocturnal spasms. The hallmark of PLMD is myoclonic movement of upper and lower extremity thought to be due to hyperactivity of propriospinal neurons. The stellate ganglion is thought to be the source of a sympathetic nervous system activation and blocking the ganglion with local anesthetic reduces sympathetic activity. SGB for PLMD has not been previously described. However, our results indicate that communication between motor neurons and sympathetic nervous system is possible due to the plasticity of propriospinal interneurons. While the indication for SBG is rapidly expanding, its application for PLMD is truly novel. Further research is desperately needed to establish SGB as a solid treatment modality for PLMD.

BackgroundMyoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use.Case presentationWe present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic–clonic seizures. To our knowledge, this is the first trial of Perampanel in MD.ConclusionsWe presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD.