Journal of Movement Disorders最新文献

Background: The Col-Cap classification for cervical dystonia (CD) is proposed to optimize treatment strategy with botulinum toxin type A (BTX-A). Although this concept has been used for 15 years, the efficacy of BTX-A in various CD patterns remains unclear. The present study compared the efficacy of BTX-A aided by single-photon emission computed tomography (SPECT) and electromyography (EMG) in various CD patterns.

Methods: CD patients who underwent SPECT scan to detect dystonic muscles were included. Candidate muscles were firstly selected by clinical evaluation and abnormal radioactivity on SPECT imaging. All patients were injected under the guidance of EMG and only those candidate muscles with positive EMG were injected. The efficacy of BTX-A was measured by subjective clinical improvement rate and the reduction rate of Tsui score at four weeks after injection.

Results: The study enrolled 252 patients. The subjective improvement rates were 63.5 ± 20.6% in simple types and 59.9 ± 22.2% in complex types, showing no significant difference (p = 0.247). The reduction rates of Tsui score showed no difference between the simple type (52.4 ± 24.2%) and the complex type either (49.6 ± 23.6%, p = 0.556). There were no significant differences in clinical improvement rates within each group of simple subtypes, complex subtypes, or patients with different types of tremors (p > 0.05).

Conclusion: Different CD patterns exhibited comparable efficacy of BTX-A due to appropriate selection of dystonic muscles aided by SPECT and EMG, indicating that by employing multifaceted approaches to identify dystonic muscles, favorable outcomes can be achieved even in complex cases.

Objectives: Colony-stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is a rapidly progressive neurodegenerative disease with a median onset of 43 years. More than 200 CSF1R pathogenic variants have been identified. Patients develop rapidly progressive dementia and motor symptoms with median disease duration of 6.8 years. The p.R777Q variant causes CSF1R-RD; it is deleterious to protein function. We describe clinical and pathological features of CSF1R-RD associated with p.R777Q and report a new family carrying this variant. We compare index case (short duration) with the long-duration CSF1R-RD case.

Methods: We present clinical and imaging on a new family with p.R777Q. We also describe neuropathology of the index patient and contrast these findings with features of a patient with CSF1R-RD with an 11-year disease course caused by c.2656_2657insC variant.

Results: We reviewed the literature of 13 individuals from 8 families with the p.R777Q variant from Asia, Europe, and North America. The mean onset was 41 ± 14 years ranging from 22 to 63 years, and the mean survival was 3.3 ± 2.5 years. Neuropathologic studies of our index patient (10-month disease duration) showed features consistent with CSF1R-RD. Axonal and myelin pathology was severe in the periventricular white matter. Compared to a patient with an 11-year disease duration, white matter had less severity.

Conclusion: The p.R777Q variant has an aggressive course compared to CSF1R-RD associated with other variants. Index case had milder neuropathological findings compared to case with long disease duration. These differences may be specific to p.R777Q or associated with rapid clinical progression.

Objective: This study aimed to evaluate the feasibility of muscle ultrasonography (US) as a diagnostic tool for assessing sarcopenia in patients with Parkinson's disease (PD) to facilitate early detection and intervention to help prevent falls and enhance quality of life.

Methods: This prospective single-center study evaluated the diagnostic accuracy of US for identifying sarcopenia, using the Asian Working Group for Sarcopenia 2019 criteria as the reference. A total of 85 patients with PD, were recruited between June 2022 and August 2024, consisting of 31 individuals in the sarcopenic group and 54 in the nonsarcopenic group. We compared muscle thickness (MT), cross-sectional area (CSA), and shear wave velocity of the rectus femoris (RF), anterior tibialis (AT), and biceps brachii (BB) between the two groups. Statistical analyses included univariate analysis, correlation analysis, and binary logistic regression to develop a prediction model for sarcopenia.

Results: The sarcopenic group exhibited lower MTBB, MTAT, and CSAAT than the nonsarcopenic group (all p<0.05). MTBB, CSABB, and CSAAT were significantly correlated with the appendicular skeletal muscle mass index and functional measures (all p<0.05). The prediction model, which included age, body mass index, and MTBB as predictors, achieved an area under the curve of 0.857, with a sensitivity of 80.6% and a specificity of 79.6%.

Conclusion: US is a reliable and effective diagnostic tool for assessing sarcopenia in patients with PD, providing a practical approach for early identification of this condition.

Magnetic resonance-guided focused ultrasound (MRgFUS) is an emerging and promising technology for treating movement disorders, such as essential tremors and tremor-dominant Parkinson's disease. MRgFUS utilizes advanced ultrasound transducer emitters to condense sound waves at a precisely defined point. This technology can target various brain areas, such as the pallidothalamic tract, thalamus, and pallidum, to ameliorate some of the symptoms of Parkinson's disease and other movement disorders, such as dystonic and action-induced tremors. We review the current status of preclinical and clinical trials on the clinical use, treatment outcomes, and indications of MRgFUS.

Objective: Exercises have been proposed as adjuvants for the treatment of Parkinson's disease (PD); however, responses to exercise interventions have shown inconsistent results. We investigated the clinical factors associated with improvements in motor deficits after exercise.

Methods: A total of 85 patients with PD were enrolled from five tertiary hospitals and classified into four exercise groups: home exercise, strength training, Tai Chi, and yoga groups. Clinical measurements of the motor and nonmotor features of patients with PD were performed at baseline and 12 weeks after the exercise intervention. We employed principal component analysis (PCA) to reduce variables into ten factors and then examined associations of baseline characteristics with percentage improvement in the Movement Disorder Society sponsored Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS III) score via a Bayesian regression model.

Results: In the multivariate Bayesian regression model including ten PCA-derived factors, the percentage improvement in the MDS-UPDRS III score was associated with factors including prominent motor deficits (posterior interval [mean±standard deviation]: 2.5±1.5) and nonmotor symptoms such as depression, anxiety, and subjective memory impairment (3.3±1.7). Another factor related to functional impairments in gait and postural control was associated with less improvement after the exercise intervention (-3.9±1.7). According to the subgroup analyses, motor features were associated with improvements in the home exercise and strength training groups, whereas mood disturbance, fatigue, and subjective cognitive impairment were related to changes in the home exercise and Tai Chi groups.

Conclusion: Our results suggest that the individual phenotypes of patients with PD may be associated with clinical improvement following exercise.