Tremor and Other Hyperkinetic Movements最新文献

Introduction: Patients with essential tremor (ET) may exhibit intention tremor (IT), a sign of cerebellar dysfunction. The prevalence of this sign has been established in cross-sectional studies. To date, however, there have been no cohort studies, re-assessing ET cases prospectively, to determine whether the severity of IT increases over time. The fundamental question is whether IT is progressive in ET.

Methods: 90 cases enrolled in a prospective, longitudinal study of elders with ET. IT was assessed in each arm during the finger-nose-finger maneuver (10 repetitions per arm) and scored by a movement disorders neurologist on a 3-item scale - 0 (absent), 0.5 (probable), or 1 (definite), with the IT score (sum of IT in both arms) ranging from 0 - 2. Data from four evaluations every 18 months (T1 - T4) over a 4.5-year period were analyzed.

Results: A one-way repeated measures analysis of variance revealed a time effect for IT, indicating significant variance across time in this variable. Paired sample t-tests indicated that the mean IT score at T4 was greater than those at T1, T2 and T3. There was heterogeneity in the sample, with the T4 score being greater than the T1 score in 46 (51.1%) of 90, but not all individuals.

Conclusion: The cerebellar sign, IT, progressively worsened over time in ET. To our knowledge, this is the first demonstration that any canonical cerebellar sign gets progressively worse during prospective follow-up of ET. This clinical observation serves to further the links between ET and progressive cerebellar decline.

Background: Motor features aside from tremor are increasingly recognized in essential tremor (ET) patients. The relationship between these features and tremor has received sparse attention. We examined whether the severity of action tremor in the arms was correlated with the severity of tandem gait difficulty and balance confidence.

Methods: 212 ET cases enrolled in a prospective clinical study, from which baseline data on the following variables were analyzed: severity of action tremor (total tremor score [TTS] from the Washington Heights-Inwood Genetic Study of Essential Tremor rating scale, range = 0-36 [severe tremor]), tandem gait mis-steps (range = 0-10), and Activities of Balance Confidence (ABC-6) Scale (range = 0 [least confident] - 100).

Results: Higher TTS was associated with a greater number of tandem gait mis-steps (Spearman's rho = 0.216, p = 0.002) and higher tertile of number of tandem gait mis-steps (Spearman's rho = 0.237, p < 0.001). Higher TTS was associated with reduced balance confidence (i.e., lower ABC-6 score) (Spearman's rho = -0.196, p = 0.004) and lower tertile of balance confidence (Spearman's rho = -0.175, p = 0.01).

Discussion: We report an association between the severity of upper limb action tremor in ET and both a self-reported measure of balance confidence and a performance-based measure of balance. These data support the model that upper limb action tremor and tandem gait difficulty are associated in some way, with one possible interpretation being that they are both related to a common underlying element, cerebellar dysfunction.

Background: Musician's dystonia, characterized by a loss of voluntary motor control during performance, predominantly manifests as two forms: Musician's Hand Dystonia (MHD) and embouchure dystonia (ED). ED involves more muscle groups compared to MHD, complicating diagnosis and treatment. Moreover, treatment options for MHD are either not viable for ED, such as botulinumtoxin injections, or less effective in ED, such as anticholinergic drugs.

Methods: This study aimed to compare long-term subjective playing abilities at the onset of dystonia and after treatment between ED and MHD patients. We also evaluated the variation in subjective playing ability over time between the groups.

Results: Findings revealed that playing ability at onset and the current playing ability are significantly lower in ED than in MHD. Notably, a significant improvement in playing ability over time was observed solely in MHD. Additionally, fewer ED patients sought therapeutic interventions, underscoring a scarcity of treatment options.

Discussion: The results highlight a poorer prognosis for ED compared to MHD, likely due to the increased muscle involvement in ED and limited compensatory mechanisms available to these patients, emphasizing an urgent need for alternative therapeutic strategies for those affected by ED.

Background: Blepharospasm is a focal dystonia characterized by involuntary eyelid closure that can impair vision and quality of life. Botulinum neurotoxin type A injections are the standard treatment. However, there is substantial variability in dose requirements among patients. Symptom severity ranges from mild, intermittent blinking to forceful, sustained spasms leading to functional blindness.

Case report: We present two cases of blepharospasm successfully managed with unusually high doses of AbobotulinumtoxinA administered over 8 and 13 treatment cycles, respectively.

Discussion: Both patients achieved sustained symptomatic relief with only mild, self-limiting side effects, underscoring the importance of individualized dosing strategies in clinical practice.

Highlights: Two patients with refractory blepharospasm were successfully managed with high-dose AbobotulinumtoxinA (500 U every 12 weeks)Both patients achieved sustained symptomatic improvement over multiple treatment cyclesAdverse effects were mild and transientHigh-dose AbobotulinumtoxinA may represent a safe and effective option for patients inadequately controlled with standard doses.

Background: Transcutaneous afferent patterned stimulation (TAPS) is a non-invasive, wrist-worn neurostimulation therapy that has demonstrated acute and short-term lasting tremor reduction in patients with essential tremor (ET). However, the longer-term improvement in underlying tremor severity from consistent use of TAPS has not been fully explored.

Methods: We conducted a retrospective analysis of the multicenter PROSPECT trial, which evaluated twice-daily TAPS use over three months in patients with ET. Underlying tremor improvement was assessed by comparing pre-stimulation tremor severity at baseline with pre-stimulation tremor severity at 1- and 3-month follow-up visits. Tremor severity was measured using the Bain & Findley Activities of Daily Living (BF-ADL) scale and the Tremor Research Group's Essential Tremor Rating Assessment Scale (TETRAS). Responders were defined as patients demonstrating at least a 1-point improvement on any qualifying task.

Results: Among 192 patients with available data, pre-stimulation BF-ADL scores improved significantly by 2.0 points at 1 month and 2.7 points at 3 months compared with baseline (p < 0.001). Pre-stimulation TETRAS scores also showed significant improvements at both time points (p < 0.001). Measurements at 1 and 3 months were made an average of 16.2 hours after the prior stimulation session. Over 80% of patients met responder criteria for underlying tremor improvement on BF-ADL and TETRAS at both follow-up visits. Improvements were observed even among patients using TAPS approximately once daily.

Conclusions: Consistent use of TAPS was associated with significant improvement in underlying tremor severity in patients with essential tremor. These findings suggest that regular TAPS use may confer sustained therapeutic benefit.

The 12^th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12^th-14^th, 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders. The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 "Glenn Irvine Prize" award lecture.

Background: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics and associated with comorbidities such as obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). Teachers' understanding of TS is critical for recognizing symptoms and providing effective support in the classroom.

Methods: A cross-sectional study was conducted in 2024 among teachers in the Eastern Province of Saudi Arabia. A validated online questionnaire was distributed to a randomly selected sample of primary, intermediate, and high school teachers from both governmental and private schools. Knowledge was assessed using a 23-item tool and categorized as poor, moderate, or good.

Results: Among the 305 participants, the majority were female (56.1%) and Saudi nationals (94.8%). A large proportion (41.3%) had substantial teaching experience (≥17 years). Overall, 57% of teachers demonstrated poor knowledge of TS, while only 5.9% showed good knowledge. Although understanding of motor and vocal tics was relatively high (65.9%), awareness of common comorbidities was lower (OCD: 29.2%; ADHD: 50.8%). Most teachers (84.9%) reported no personal experience with students with TS. A significant positive correlation was found between prior experience with TS and higher knowledge scores (p < 0.05). The primary source of information was the internet and social media (35.1%), with very few teachers citing formal training.

Conclusion: A significant knowledge gap regarding TS exists among schoolteachers in Eastern Saudi Arabia. The reliance on informal sources over structured training highlights an urgent need for targeted educational programs and professional development workshops. Enhancing teacher preparedness is essential for creating inclusive learning environments that support the academic and social success of students with TS.

Background: Trichorhinophalangeal syndrome type I (TRPS I) is a rare, autosomal dominant disorder characterized by facial abnormalities, sparse hair, and skeletal deformities, including the skull base.

Case report: We report the case of a patient with TRPS I who was found to have syringomyelia and a movement disorder complex including action tremor and cervical dystonia.

Discussion: Syringomyelia has been reported to occur in TRPS I secondary to posterior fossa abnormalities. We postulate that the patient's cervical dystonia and action tremor are secondary to syringomyelia. The authors review possible mechanisms and review literature of similar cases.

Highlights: This case report describes a patient with trichorhinophalangeal syndrome type I (TRPS I) with syringomyelia as well as action tremor and cervical dystonia. To our knowledge, this is the first report to demonstrate a triad of syringomyelia and two associated movement disorders with sequelae of TRPS I likely the ultimate cause.

Clinical vignette: A 69-year-old woman with Parkinson's disease underwent left subthalamic nucleus (STN) deep brain stimulation (DBS). Intraoperative awake microelectrode recording (MER) was used to confirm targeting.

Clinical dilemma: MER and stimulation mapping revealed a short STN segment on the central pass, absent STN activity on the lateral pass, and low thresholds for capsular side effects. The data suggested a mismatch between the planned imaging-based trajectory and the localization of STN using physiology.

Clinical solution: A substantial adjustment based on MER was required, giving up the 'fork' in the brain. The lead was repositioned 3.4 mm posterior and 2.9 mm medial to the initial central pass (4.9 mm vector). Final placement produced robust motor benefit and a desirable therapeutic window for programming.

Gap in knowledge: Asleep image-guided workflows assume static intracranial anatomy: pneumocephalus can induce millimetric brain shift. This case demonstrated a pneumocephalus-related displacement and how MER, stimulation thresholds, and postoperative atlas-based validation can be employed to correct it.

Highlights: This case illustrates how intraoperative pneumocephalus can compromise targeting in deep brain stimulation.Microelectrode recording provided critical confirmation, guided corrective lead adjustments, and safeguarded therapeutic outcomes, emphasizing the value of physiology-based targeting alongside modern imaging techniques.

Background: Post-stroke movement disorders are rare. Abdominal myoclonus following anterior cerebral artery (ACA) infarction has not been previously reported.

Case report: A 75-year-old man presented with acute right-sided weakness and involuntary, rhythmic contractions of the abdominal muscles. Imaging revealed an acute left ACA infarction involving the precentral gyrus. Scalp electroencephalography (EEG) showed no epileptiform discharges. Other secondary causes of myoclonus were ruled out. Abdominal myoclonus resolved after intravenous levetiracetam.

Discussion: This case highlights cortical abdominal myoclonus as a rare manifestation of ACA ischemic stroke. Epileptiform abnormalities on EEG are often not found. Treatment with an antiepileptic medication may resolve the myoclonus.