Tremor and Other Hyperkinetic Movements最新文献

Functional Neurological Disorder (FND) is a complex condition characterized by a range of motor and non-motor symptoms, including tremors, dystonia, sensory disturbances and dissociative episodes. Functional Movement Disorder (FMD), a common motor subtype of FND, specifically involves abnormal involuntary movements without an identifiable structural or organic cause. There isn't a validated assessment tool that currently exists to measure the specific impact of stress on motor symptom variability in FMD. The absence of such tools presents a barrier to accurate diagnosis, treatment planning, and longitudinal monitoring. This review focuses specifically on the FMD subtype, as it represents the most relevant phenotype for assessing stress-related motor dysfunction in the context of movement disorders. Following PRISMA-ScR guidelines, a systematic search was conducted across four major databases-PubMed, PsycINFO, Embase, and Scopus-using keywords related to FND, stress, motor symptoms, and psychometric evaluation. A total of 15 studies met inclusion criteria. Findings reveal a gap in available instruments: while several measures assess general stress (e.g., PSS-10, DASS-21) or motor symptoms (e.g., S-FMDRS), none are designed to capture the dynamic and stress-sensitive nature of motor dysfunction in FND. The review underscores the need for a patient-reported outcome (PRO) measure that is condition-specific, psychometrically validated, and capable of assessing real-time symptom variability linked to stress. Such a tool may offer significant benefits for clinical care and research by improving the precision of symptom monitoring, enhancing patient-provider communication, and guiding targeted interventions.

Background: Movement disorders are an uncommon but important manifestation of central nervous system toxoplasmosis. Their phenotypes, lesion patterns, and outcomes have not been systematically characterized.

Methods: A PRISMA-based systematic review identified all published patient-level reports of central nervous system toxoplasmosis with movement disorders. Eligible case reports and case series confirmed infection via serology, neuroimaging, polymerase chain reaction, or histopathology. Extracted data included demographics, immune status, clinical and neuroimaging features, lesion location, movement disorder type, treatment, outcomes, and proposed mechanisms. Cases were classified as hyperkinetic, hypokinetic, or cerebellar/ataxia syndromes and summarized descriptively.

Results: Sixty patients were included: hyperkinetic (n = 42), hypokinetic (n = 9), and ataxia/cerebellar (n = 9). HIV-related immunosuppression was the predominant risk factor. Reactivation of latent toxoplasmosis was most frequent (40.5%, 55.6%, 88.9%). Hemichorea/hemiballismus was the leading hyperkinetic phenotype (47.6%), parkinsonism the main hypokinetic form (77.8%), while all ataxia patients exhibited cerebellar signs. Neuroimaging showed basal ganglia involvement in hyperkinetic (47.4%) and hypokinetic (88.9%) cases, whereas ataxia cases consistently demonstrated cerebellar lesions, often with brainstem or hemispheric extension. Standard pyrimethamine-sulfadiazine therapy was used in 59.5%, 33.3%, and 44.4%, respectively. Symptomatic therapy was phenotype-specific: neuroleptics and benzodiazepines for hyperkinetic, levodopa for hypokinetic, and none specified for ataxia. Outcomes varied, with recovery or marked improvement in 57.1%, 33.3%, and 66.7%, and mortality in 33.3%, 33.3%, and 22.2%, respectively. Mechanisms implicated basal ganglia disruption, nigrostriatal degeneration, and cerebellar invasion.

Conclusions: Central nervous system toxoplasmosis-associated movement disorders show distinct phenotype-lesion correlations, with hyperkinetic syndromes most common. Outcomes vary by type, and early recognition with targeted therapy may improve prognosis.

Background: Predicting outcome for individuals with dystonia undergoing treatment with deep brain stimulation (DBS) remains challenging. This is further complicated by a lack of uniform screening, follow-up, and heterogeneous outcome measures. This study aims to achieve consensus on a national level among experts in the field to develop an agreed set of outcome measures and introduce more uniformity in the process of preoperative screening and follow-up.

Methods: A modified Delphi process was conducted among experts in the field of DBS for dystonia. The process consisted of an inventory round, followed by two rounds of Delphi questionnaires, closing with a digital consensus meeting. Experts rated the importance of items within several categories: ((non-)motor symptoms, selection criteria, follow-up, DBS-related aspects, involved care providers). A threshold of 70% was maintained as consensus criterium.

Results: After the first two rounds, consensus was reached on 40/59 items (adult DBS), and 47/61 items (pediatric DBS). The remaining items were rephrased into 28 statements (13 adult DBS, 13 pediatric DBS, and 2 concerning both) and voted on during a final consensus meeting. There, 23/28 statements (11 adult, 11 pediatric, 1 both) reached consensus. Overall, after three rounds, on most items consensus was reached.

Discussion: In this Delphi study, a high level of consensus among national experts was achieved on outcome measures and the process of screening and follow-up in DBS for dystonia for adults and children. The results present national consensus and offer an excellent start for collaborative international studies on best practice for DBS in dystonia.

Objectives: This review aims to provide a comprehensive understanding of Lance-Adams Syndrome (LAS), focusing on its pathophysiology, diagnosis, management, and patient outcomes.

Methods: Utilizing the PICO framework, articles describing known cases of LAS and interventions were included, with no specific comparisons. The search was conducted in Google Scholar, PubMed, and Scopus databases.

Results: LAS is characterized by action myoclonus and related symptoms. Imbalances in neurotransmitters and involvement of brain areas like the cerebellum, thalamus, and basal ganglia play a role in its pathophysiology. Diagnosis primarily relies on symptom history post-anoxic events, and treatments vary in effectiveness. LAS generally carries a more favorable functional prognosis than early post-anoxic status myoclonus, but often remains chronic and disabling.

Conclusion: LAS is a complex and rare neurological condition requiring early diagnosis and specific interventions. The compiled information provides a comprehensive overview, assisting clinicians in understanding and managing LAS. This review emphasizes the need for ongoing research and individualized patient care strategies, seeking to enhance overall patient quality of life.

Background: Medication adherence in essential tremor (ET) remains poorly characterized. This real world study aimed to investigate adherence rates, clinical correlates, and predictors among ET patients in China.

Methods: A prospective cohort of 318 ET patients (116 pure ET, 202 ET-plus) was followed for a mean of 22.91 ± 3.86 months. Standardized assessments included the Tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS), Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), and Non-Motor Symptoms Scale (NMSS). Adherence was defined as daily use of prescribed tremor medications. Logistic regression identified predictors.

Results: Only 27.4% (87/318) maintained daily adherence. ET-plus patients showed higher adherence than pure ET (32.2% vs 19.0%, P = 0.011). Arotinolol was the most common medication. Compared to non-adherent patients, adherent patients showed higher urban residency (P = 0.026), head tremor prevalence (P = 0.002), mild cognitive impairment (P = 0.038), higher TETRAS-I (P = 0.047) and TETRAS-II scores (P = 0.008), as well as lower MoCA scores (P = 0.021). Multivariable analysis showed better medication adherence was significantly associated with higher TETRAS-II score (OR = 1.041, 95% CI = 1.001-1.082, P = 0.047), urban residence (OR = 1.775, 95% CI = 1.066-2.957, P = 0.028), and the presence of head tremor (OR = 1.936, 95% CI = 1.125-3.332, P = 0.017). No significant association was found between ET subtypes and adherence (P > 0.05).

Conclusion: Medication adherence is alarmingly low in Chinese ET patients, especially in pure ET. Greater tremor severity, presence of head tremor, and urban residence were independently associated with better medication adherence.

Highlight: Medication adherence among Chinese essential tremor (ET) patients remains suboptimal (only 27.4% in our cohort). ET plus patients showed higher adherence (32.2%) than pure ET (19.0%). Predictors of adherence included severe tremor (TETRAS-II), urban residence, and head tremor. Arotinolol was the predominant treatment. Findings emphasize the need for personalized interventions.

Clinical vignette: RNA polymerase III subunit A (POLR3A) related disorders are a group of heterogeneous diseases with a recessive autosomic inheritance. These disorders manifest with distinct clinical features like ataxia, spasticity, hypodontia, hypogonadism, mental retardation and progressive motor decline.

Clinical dilemma: POLR3A gene mutation can manifest with parkinsonism, dystonia, ataxia and tremor. Deep brain stimulation (DBS) might be effective for motor symptoms. Choosing the best DBS target is essential for successful treatment.

Case reports and clinical solution: Two subjects with a predominant tremorous syndrome due to POLR3A gene mutation with no response to pharmacological treatment underwent DBS at ventral intermediate nuclei (Vim DBS) of thalamus, with significant improvement in tremor.

Gap in knowledge: Tremor in POLR3A gene mutation could respond to Vim DBS.

Background: Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is an emerging, non-invasive treatment for essential tremor (ET). However, postmortem data on the long-term neuropathological effects are limited.

Case report: An 86-year-old man with refractory ET underwent MRgFUS thalamotomy. Tremor improved by 95% and remained controlled until his death 35 months later. Postmortem MRI and neuropathologic analysis showed localized disruption of the dentatorubrothalamic tract and demyelination near the treatment site with preserved neuronal integrity.

Discussion: This is the first postmortem analysis of MRgFUS thalamotomy 35 months after procedure. Findings confirm sustained tremor relief associated with selective demyelination. The lesion remained well-defined without expansion, supporting MRgFUS as a precise and safe treatment for ET.

Highlights: This paper presents the first long-term (35-month) postmortem analysis of MRgFUS thalamotomy demonstrating sustained clinical efficacy. Postmortem MRI confirmed that the lesion remained localized to the original thalamotomy site, with focal disruption of the dentatorubrothalamic tract. Neuropathological examination revealed selective demyelination in the posterior thalamus near the treatment site, without evidence of neuronal loss. These findings support the long-term safety, precision, and durability of MRgFUS as a non-invasive therapeutic option for essential tremor.

Objective: To describe a unique form of task-specific tremor (TST) in billiards players.

Background: Task-specific movement disorders occur during highly learned activities. While task-specific dystonia in billiards players has been reported, TST has not been previously characterized.

Methods: Case series with literature review.

Cases: Two right-handed billiards professionals developed tremor specifically during cueing. In Case 1, a 55-year-old experienced right arm tremor triggered by shoulder extension during cue positioning. Tremor resolved upon shooting, improved with alcohol, and was confirmed by electromyography showing a 6.3-Hz tremor. Botulinum toxin provided partial benefit, whereas medications were ineffective. Case 2, a 66-year-old player, had coarse tremor in the non-dominant (left) hand used to form the bridge during his shooting stance, contrasting with Case 1, where the dominant hand holding the cue was affected. Medications were ineffective, but thalamic deep brain stimulation resulted in approximately 70% improvement. Both had subtle bilateral postural and kinetic tremor, and neither showed features of dystonia.

Conclusion: Our cases expand the phenomenology of task-specific movement disorders in billiards players to include tremor. Alcohol responsiveness and electrophysiologic findings suggest a variant of essential tremor. Recognizing primary cueing tremor may have implications for treatment, natural history, and pathophysiology, which likely differ from those of billiards-related dystonia.