Tremor and Other Hyperkinetic Movements最新文献

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.

[This corrects the article DOI: 10.5334/tohm.747.].

Background: Neurocysticercosis, caused by Taenia solium larvae, is a common parasitic infection of the central nervous system in endemic regions. Although seizures and headaches are the typical presentations, movement disorders represent a lesser-known but clinically important manifestation. This systematic review aimed to examine the spectrum, radiological correlates, treatments, and outcomes of movement disorders associated with neurocysticercosis.

Methods: A comprehensive search of PubMed, Scopus, Embase, Web of Science, and Google Scholar was conducted to identify case reports, case series, and cohort studies reporting movement disorders in confirmed cases of neurocysticercosis. Included studies were assessed for clinical details, neuroimaging findings, cerebrospinal fluid results, type of movement disorder, treatment regimens, and outcomes. Quality assessment was done using Murad's framework for case reports.

Results: A total of 45 patients were included: 21 presented with hypokinetic and 24 with hyperkinetic movement disorders. In the hypokinetic group, parkinsonism was the most common manifestation (52.38%) with basal ganglia and midbrain involvement. Levodopa was administered in 28.57%, and 47.62% achieved marked clinical improvement. In the hyperkinetic group, chorea (29.17%), facial dyskinesias (25%), and myoclonus (16.67%) were prevalent. Albendazole with corticosteroids was used in over 60% of cases, and 83.3% had full or marked recovery.

Conclusions: Movement disorders in neurocysticercosis are diverse but potentially reversible. Early neuroimaging and targeted therapy yield favorable outcomes, especially in hyperkinetic presentations.

Background: Essential tremor (ET) is a common movement disorder that affects the upper limbs in vital activities of daily living. Few studies have examined the impact of tremor severity on caregiving intensity.

Methods: Clinic-based data were collected in the United States (US) from March 2021 to August 2021 through the Adelphi ET Disease Specific Programme (DSP). Linked data between physician and care partner/patient pairs were used to evaluate care partner-reported weekly hours of patient care. Tremor severity was assessed with the Essential Tremor Rating Assessment Scale (TETRAS) Performance and Activities of Daily Living subscales. Pearson chi-square, correlation and multivariate regression analyses were conducted to examine the relationships between tremor severity and hours of care partner assistance.

Results: A quarter of 960 individuals with ET required care partners. Most care partners were spouses (61%), but other family members or friends also served as care partners. About 23% of care partners reported giving constant care, defined as 112 hours per week or more, while the remainder of care partners reported caregiving time averaging 24.5 hours per week. The probability of needing a care partner was significantly associated with tremor severity, and the association between care partner need and tremor severity was moderate (bivariate r = 0.32-0.37) and not substantially impacted by the inclusion of additional covariates (age, sex, race, comorbidity, relationship with patient, and living with patient).

Discussion: Roughly 25% of patients with ET have care partner needs, and the number of care partner hours provided is correlated with tremor severity. Therefore, treatments that ameliorate tremor severity have the potential to reduce caregiving intensity in ET.

Background: Clinical practices regarding neuroimaging in isolated cervical dystonia vary across countries and there are no published studies investigating the need of routine neuroimaging in this patient population.

Objectives: To investigate if structural neuroimaging is needed in patients with isolated cervical dystonia.

Methods: Patients with adult-onset cervical dystonia were identified from a systematic search of the medical records of Turku University Hospital 1996-2022. Clinical and structural neuroimaging data were reviewed by the investigators to evaluate the etiology of dystonia, specifically to identify cases of secondary dystonia caused by structural brain abnormalities.

Results: 365 patients with cervical dystonia without other movement disorders with presumed idiopathic or uncertain etiology prior to brain imaging were identified. 282 (77.3%) were scanned using head MRI or CT. Acquired brain lesions were identified in nine (2.5% of all patients) and were significantly more common in patients with vs. without (i.e. isolated) other neurological features (P < 0.001). Lesions in patients with other neurological features were considered likely (n = 4) or possibly (n = 2) causal, but all lesions in patients with isolated cervical dystonia (n = 3) were considered incidental. None of the patients showed signs of progressive neurodegeneration.

Conclusions: Routine neuroimaging is not necessary in patients with adult-onset isolated cervical dystonia.

Highlights: Studies investigating the need of structural neuroimaging in isolated, adult-onset cervical dystonia are scarce and opinions on this issue are divided among experts.In this study, we reviewed clinical and imaging data of all patients with cervical dystonia with presumed idiopathic or uncertain etiology prior to brain imaging treated at a regional tertiary care hospital between 1996-2022 to investigate the yield of structural brain imaging in these patients.Of the included 365 patients, none showed evidence of progressive neurodegeneration underlying the symptoms and only six (1.6%) showed acquired brain lesions that were considered possibly or likely causal for cervical dystonia.All the six patients with possible or likely lesion-induced cervical dystonia showed cervical dystonia combined with other neurological features, indicating that routine neuroimaging is not needed in isolated, adult-onset cervical dystonia.

Background: Hyperglycemia-induced movement disorders usually present as hemichorea or hemiballismus. Non-choreiform presentations are rare and often overlooked.

Case report: We present the case of a 36-year-old man with uncontrolled type 2 diabetes who developed painful oromandibular dystonia, dysarthria and dysphagia. These symptoms were investigated using flexible endoscopic evaluation of swallowing (FEES). An MRI revealed reversible T2 hyperintensities in the pons without striatal involvement. The symptoms resolved with insulin normalization and tetrabenazine treatment.

Discussion: Transient brainstem dysfunction due to hyperglycemia may present with oromandibular dystonia and dysphagia. FEES facilitates early detection of subtle yet clinically relevant complications.

Background: Essential tremor (ET) is the most common movement disorder in adults, but its pathogenesis is incompletely understood. Deep brain stimulation of the ventral intermediate thalamic nucleus (VIM DBS) provides effective treatment for medically-refractory cases. We aimed to determine how pre-surgical resting-state functional connectivity (FC) in medically-refractory ET relates to VIM DBS clinical response.

Methods: We analyzed resting-state FC MRI in 21 participants with medically-refractory ET who subsequently underwent VIM DBS and 34 matched controls. We applied rigorous quality assurance to minimize motion artifact. Whole-brain correlation matrices were computed across 300 cortical, subcortical, and cerebellar regions and compared across groups using object-oriented data analysis, a powerful novel approach. We used multiple linear regression to determine whether network FC (calculated as mean cross-correlation between nodes) in defined networks predicts VIM DBS response. We assessed regional FC using a seed in motor thalamus.

Results: Whole-brain correlation matrices and regional motor thalamus FC differed significantly between groups. Post-hoc network-level testing revealed decreased thalamus-somatomotor, thalamus-visual, and auditory-visual FC in ET versus controls. Regional FC showed increased primary motor cortex and decreased occipital-parietal and cerebellar FC with motor thalamus in ET relative to controls. Visual-lateral somatomotor network FC negatively predicted tremor improvement with VIM DBS.

Discussion: Whole-brain, network, and regional FC results demonstrate cerebello-thalamo-motor pathway dysfunction in ET. Robust FC differences in motor and visual regions related to VIM DBS outcomes. These results, employing rigorous quality control, support the need for additional investigation into the role of visual cortical networks in ET and DBS response.