Tremor and Other Hyperkinetic Movements最新文献

Functional tremor (FT) is the most common functional movement disorder, but diagnosis can be challenging. Archimedes spiral drawings are a useful bedside tool, and looping, also known as the "stretch slinky" sign, has been described as a feature of FT. However, the prevalence of looping in FT and its occurrence in essential tremor (ET) are unclear. This retrospective study examined Archimedes spirals from 22 FT and 28 ET patients. Looping (≥1) was observed in 45.5% of FT spirals and 60.7% of ET spirals, with no significant difference in loop counts between groups (Mann-Whitney U test). A loop-count threshold of ≥7 had the highest positive predictive value for FT (PPV 0.75) and high specificity (0.96), but poor sensitivity (0.14). Receiver operating characteristic analysis yielded an AUC of 0.46. Looping in Archimedes spirals occurs in both FT and ET, and loop counts alone show poor discriminative ability. A loop count ≥7, although insensitive, is highly specific for FT and may provide supportive evidence in the full clinical context.

Background: Leukodystrophies are inherited heterogeneous diseases that are predominantly characterized by degenerative changes in the white matter of the central nervous system. These disorders begin both in childhood and in adulthood and have a complex phenotype that includes involuntary movements specifically chorea.

Methods: This paper describes two female patients for whom generalized chorea was the primary clinical manifestation of leukodystrophy. Literature search was done through PubMed database with aim to included articles that described case reports of patients (both adult and childhood-onset) with leukodystrophy presenting with chorea in patients with metachromatic leukodystrophy (MLD) or L-2-hydroxiglutaric aciduria (L2HGA).

Results: The first case presents MLD with adult-onset chorea combined with cognitive-behavioral changes mimicking Huntington's disease, while the second case is caused by L2HGA and the diagnosis had been established in the adulthood. The search resulted in 163 articles, but only one in the end described phenotype suggestive of dyskinetic movement disorder.

Discussion: Leukodystrophies, though primarily white matter disorders, can present with involuntary movements. Our cases with MLD and L2HGA highlight adult patients with chorea as a key manifestations, so metabolic and genetic testing is crucial in unexplained chorea.

Highlights: Leukodystrophies cause white matter degeneration and involuntary movements. We present two cases: one with MLD mimicking Huntington's disease and one with L2HGA diagnosed in the adulthood. These clinical manifestations have not yet been precisely reported in the literature. This manuscript present rare adult-onset chorea in leukodystrophies and expands phenotypic diversity.

Background: Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described.

Case report: We present a case of a 51-year-old married male who presented with segmental dystonia affecting the bilateral upper limbs and lower face, accompanied by perioral dyskinesia and a dystonic tremor that was more pronounced on the left side. There was no family history of similar symptoms. His evaluation revealed a history of infertility and the presence of gynecomastia, prompting further endocrine assessment, which demonstrated hypergonadotropic hypogonadism. This finding guided the diagnosis of Klinefelter syndrome (KS), confirmed by a 48,XXY karyotype. He was treated with antitremor medications and Botulinum toxin (BoNT-A), which led to moderate improvement.

Discussion: Our case represents the fourth reported case of KS with dystonic tremor in the literature.

Background: Vocal tremor profoundly impacts communication, social participation, and quality of life. Although expert auditory-perceptual ratings of vocal tremor severity align with acoustic voice outcomes (e.g., extent of frequency (f _o) and intensity modulation), patient perception of their voice remains unexamined despite its clinical importance. This study aimed to characterize the relationship between patient-reported vocal tremor severity and acoustic voice outcomes at baseline and after botulinum toxin injections.

Method: Patients diagnosed with vocal tremor affecting multiple structures (ETvt) or tremor only observed in the larynx (LDvt) were recruited. Participants completed the voice section of the Quality of Life in Essential Tremor questionnaire to assess patient perception and performed sustained /ɑ/ at a comfortable pitch and volume, from which acoustic voice outcomes (rate and extent of fundamental frequency [f_o ] and amplitude [dB] modulation) were derived. A subset of participants received botulinum toxin injections and were reassessed within the therapeutic window (within 12 weeks).

Results: Thirty participants (29 females; mean age = 72 years, SD = 11.40) were analyzed. Participants who rated their vocal tremor as "severe" demonstrated higher rate f_o (β = 1.20, 95% CI: -0.10, 2.60 Hz) and rate dB (β = 2.30, 95% CI: 0.50, 4.10 Hz) compared to participants who rated their tremor as "moderate". Participants who rated their tremor as "marked" demonstrated higher rate f_o (β = 1.50, 95% CI: 0.30, 2.60 Hz) compared to "moderate" ratings. Improvements in patient perception of vocal tremor and acoustic outcomes were highly heterogenous among seven participants who received botulinum toxin.

Discussion: Participants reporting more severe vocal tremor demonstrated more aberrant acoustic voice outcomes. After botulinum toxin injection, substantial heterogeneity was observed in acoustic voice measures which varied based on patient perception of change. These preliminary, exploratory findings provide a foundation for future investigations to define meaningful change in this population.

Background: Magnetic resonance-guided focused ultrasound thalamotomy (MR-FUS) is a promising, noninvasive treatment for medically refractory essential tremor (ET). It is well tolerated, with the most common side effects being sensory and gait disturbances.

Case report: A 69-year-old man presented with orofacial dyskinesias, left hemichorea, and motor impersistence 1 week after MR-FUS of the right ventralis intermedius nucleus for ET. MRI brain demonstrated right ventral thalamus T2 hyperintensity with inferolateral extension abutting the subthalamic nucleus (STN).

Discussion: Chorea is a rare side effect of MR-FUS, but may be present with inferolateral lesions extension to the STN, disrupting the indirect pathway.

Background: REM sleep behavior disorder (RBD) is a rare REM-parasomnia, now considered a non-motor symptom of Essential Tremor (ET). Distinct structural alterations in the thalamus, as a key region modulating REM sleep, have been reported in patients with idiopathic and Parkinson's disease-related forms. In this work, we investigated thalamic regions in ET patients with and without RBD, using a graph theoretical analysis.

Methods: MRI data were acquired from 96 participants (41 ET, 10 ET with polysomnographic-confirmed RBD, ET-RBD, 45 controls). T1-weighted scans were obtained, and grey matter volumes were estimated across 28 thalamic regions of the AAL3 template (Cat12 toolbox). An adjacency matrix for each group was calculated using Pearson correlation. Group-specific matrices were extracted and nodal measures such as centrality measures and clustering coefficient were calculated. Differences between ET groups were computed using a set of 10000 random networks.

Results: Interestingly, among analyzed thalamic regions, ET-RBD patients showed increased local strength and weighted clustering coefficient in Geniculate Body and increased Betweenness centrality in Right Pulvinar Inferior Nucleus (p = 0.05 FDR-corrected). Moreover, ET-RBD patients showed an increased strength and weighted clustering coefficient in Left Lateral Geniculate Body and Right Medial Geniculate Body, compared to controls (p = 0.05 FDR-corrected).

Discussion: Our study demonstrates, for the first time, that the presence of RBD in ET is associated with an altered structural connectivity in thalamic regions. Our findings support the pathophysiologic role of the thalamus in the complex circuit causing RBD, in this particular ET phenotype.

Highlights: ET-RBD phenotype is associated with thalamic volume loss and altered structural connectivity, particularly in the medial and lateral geniculate and pulvinar nuclei.Our findings support the pathophysiologic role of the thalamus in the complex RBD pathophysiology in this particular ET phenotype.

Introduction: Whipple's disease (WhD) is a rare multisystemic infection caused by Tropheryma whipplei, with central nervous system (CNS) involvement seen in up to 50% of cases. Neurological symptoms may precede systemic features or occur in isolation. Movement disorders (MDs) and oculomotor abnormalities, especially oculomasticatory myorhythmia (OMM) and oculofacioskeletal myorhythmia (OFSM), are of a high diagnostic importance but remain underrecognized. This systematic review aims to update our understanding of MDs in CNS-WhD, building on a 2018 review.

Methods: A systematic search of MEDLINE, EMBASE, and Cochrane Library was performed for English-language human studies published between 01/2017-05/2025. Search terms targeted WhD and MDs. Titles, abstracts and full-text were screened in Rayyan.ai, by two independent reviewers.

Results: We added 19 articles (22 new cases) to the 100 articles (146 cases) from the previous report, making up a total of 168 CNS-WhD patients with MDs or oculomotor abnormalities. Supranuclear gaze palsy (SGP) was the most common sign (58%), followed by myorhythmia and ataxia (40% each). Pathognomonic OMM/OFSM were identified in 25% of cases, higher than previously reported. MRI showed abnormalities in 87% of cases, and brain tissue PAS staining had the highest diagnostic yield, although mostly performed post-mortem. Treatment with ceftriaxone followed by Trimethoprim-Sulfamethoxazole remained common, though doxycycline-hydroxychloroquine use has increased. MDs improved in 53% of cases.

Conclusion: Oculomotor abnormalities and MDs, especially SGP and OMM/OFSM/other myorhythmia, are key diagnostic clues in CNS-WhD, even in the absence of systemic symptoms. Greater diagnostic awareness is essential to improve outcomes of this life-threatening, but treatable, condition.

Background: Cerebellar ataxia is one of the most common movement disorders in mitochondrial disease, with POLG mutations being a frequent cause. This scoping review aimed to summarize current knowledge regarding cerebellar ataxia due to POLG mutations, focusing on epidemiological, clinical, radiological features and genotype-phenotype correlations.

Methods: We searched PubMed and Web of Science databases for all articles published in English till September 2025 describing cases of POLG-related cerebellar ataxia.

Results: In homozygous or compound heterozygous POLG mutation carriers, cerebellar ataxia seems to be progressive, and can initiate from either the bulbar muscles, trunk, or limbs. Age at onset varies greatly, ranging from birth to the early 70s. The most common variants in POLG-related cerebellar ataxia are W748S and A476T, localized in the linker region of POLG gene. Cerebellar ataxia due to POLG mutations can present in combination with progressive external ophthalmoplegia, sensory neuropathy, epilepsy (including status epilepticus), headache, other hyperkinetic movement disorders such as myoclonus and tremor, cognitive or affective disorders. Brain imaging commonly reveals atrophy of the vermis or cerebellar hemispheres, cortical atrophy, and/or bilateral T2/FLAIR lesions in both white matter and deep brain nuclei, including inferior olivary nuclei.

Conclusion: POLG-related ataxia should be included in the differential diagnosis of slowly progressive cerebellar ataxias. POLG-related disease comprises a continuum of clinical features; the combination with progressive external ophthalmoplegia, sensory neuropathy, epilepsy, hyperkinetic movement disorders, as well as characteristic imaging findings, can aid the diagnosis of this underdiagnosed entity. These findings contribute to a better characterization of the phenotype-genotype relationship in the extended pool of POLG-related mitochondrial diseases.

Highlights: This review summarizes current knowledge regarding cerebellar ataxia due to POLG mutations. A slowly progressive cerebellar ataxia in combination with sensory neuropathy, progressive external ophthalmoplegia, epilepsy, myoclonus, and characteristic imaging findings, including cerebellar atrophy, bilateral lesions in deep brain nuclei (thalami, olivary nuclei) should raise suspicion for POLG-related disease.

Background: Myoclonus is a hyperkinetic movement disorder presenting as rapid jerky involuntary movements. The etiology of myoclonus differs between in-hospital and outpatient clinic settings. Historically, those in the hospital typically develop myoclonus from toxic-metabolic or hypoxic-ischemic etiologies, whereas those presenting to a clinic tend to have an underlying neurodegenerative etiology.

Methods: We retrospectively reviewed charts of both inpatient and outpatient adult cases with myoclonus at New York Presbyterian Brooklyn Methodist Hospital over 10 years. Data were analyzed with descriptive statistical methods to elucidate demographics, etiologies, and outcomes.

Results: Overall, 279 inpatient (56.63% female aged 70.61 + 15.76 years) and 85 outpatient (52.9% female aged 64.3 + 16.3 years) individuals were included in our study. Outpatient cases were younger on average than inpatient counterparts (p < 0.05). While more Caucasian individuals were seen in the outpatient setting, more black individuals were seen in the inpatient setting; ethnic distributions did not differ significantly between the two cohorts (p > 0.05). Longer symptom duration was prevalent in outpatient cases (IQR 3-45 months) compared to inpatient (IQR < 1-4 days) ones (p < 0.05). Etiological distributions varied between the two cohorts, with toxic/drug-induced, metabolic (non-genetic), and static hypoxic/ischemic etiologies predominating our inpatient cohort, and neurodegenerative, inflammatory/autoimmune/paraneoplastic, and idiopathic etiologies more prevalent in the outpatient setting. Spinal nervous system lesion and toxic/drug-induced outpatient cases tended to present focally, but inflammatory/autoimmune/paraneoplastic etiologies were associated with axial-predominant symptoms among our outpatient cohort (p < 0.05). Responses to treatment of underlying etiology and/or anti-seizure drugs was robust in both settings overall, with over 70% of individual cases showing response.

Conclusions: Myoclonus in the inpatient and outpatient settings have differences in etiology and symptom duration, with longer duration and more neurodegenerative and inflammatory/autoimmune/paraneoplastic etiologies predominating in the outpatient cohort compared to the inpatient one. List of causes of myoclonus do not typically differentiate between the presentation in inpatient and outpatient settings. If the causes differ by setting, listing causes by setting may aid clinicians in ranking a priori probabilities.

Background: Different profiles of cognitive functioning have been demonstrated in ET subjects, also in patients with normal cognition. However, the prognostic significance of these profiles remains still debated. In this study, we aimed to explore different cognitive patterns among cognitively normal ET subjects and their relationship with the cognitive profiles of healthy subjects.

Methods: We enrolled 50 cognitively normal subjects (26 ET and 24 age-, sex-, and education-matched healthy subjects), which scored within normal ranges individually in all tests of a comprehensive neuropsychological battery covering memory, executive function, attention, visuospatial abilities, and language. Unsupervised clustering was applied separately within each group. Cluster membership was validated by post-hoc comparisons using ANOVA and Bonferroni-corrected pairwise tests to compare the variables among the clusters.

Results: All HC clustered together into a single high-functioning cognitive profile. On the contrary, we found two different clusters within ET, C1 (n = 14), showing high performance across all domains, and C2 (n = 12) which exhibited significantly poorer performances in the RAVLT-IR (p < 0.0001), RAVLT-DR (p = 0.0002), and Digit Span Forward (p = 0.015) than both ET-C1 and HC subjects. Other domains showed no significant differences across ET clusters.

Discussion: This study demonstrates a cognitive heterogeneity in ET and reveals a memory-impaired subgroup absent among HC. The ET cluster with lower memory performance likely reflects a pattern of vulnerability for longitudinal decline or progression to mild cognitive impairment. The identification of this profile has relevant translational implications for prognosis and identification of early intervention strategies.

Highlights: A data-driven clustering approach was applied to cognitive variables in HC subjects and ET patients. HC formed a homogeneous cluster. ET were divided into two cognitive subgroups: one cluster with high performance, and one memory-impaired cluster, significantly diverging from both the intact ET subgroup and HC. This may represent a cognitively vulnerable ET subgroup, with strong implications for targeted screening, early neuroprotective interventions and personalized clinical management.