Journal of Movement Disorders最新文献

Nocturnal hypokinesia (NH) is common in patients with moderate-stage Parkinson's disease (PD). This open-label, single-arm pilot study aimed to assess the effect of bedtime opicapone administration on NH and to evaluate the clinical utility of the Nocturnal Hypokinesia Questionnaire (NHQ). The primary endpoint was the change in the NHQ score from baseline to week 6. Fifteen patients were included. The mean change in the NHQ score after the 6-week treatment was -0.9 points (95% confidence interval [CI]: -2.4, 0.5; p=0.187), which was not statistically significant. However, NHQ domain 2 (getting out of bed) significantly improved, with a mean change of -0.3 points (95% CI: -0.6, -0.1; p=0.025). The administration of opicapone in patients with PD and NH did not result in a significant improvement in NH, although it was associated with an improvement in the single domain of getting out of bed. Further studies are needed to establish the efficacy of opicapone for treating NH.

Embouchure dystonia (ED) is a task-specific disorder of voluntary fine motor control that has a severe impact on musicians' ability to perform. One critical skill for professional musicians is the ability to produce sustained notes with an even loudness, however this ability in ED has not been well defined. The present study therefore examined the time-varying dynamics of loudness in ED compared to healthy musicians, as well as its relationship to F0 variability, applying sound analysis of sustained notes. The findings revealed a significantly greater varia-bility with respect to both loudness and F0 among ED patients. Furthermore, loudness and F0 variability were strongly correlated, suggesting a shared pathological basis. We conclude that F0 variability and loudness instability are reliable measures for objectively characterising ED and assisting accurate diagnosis. The incorporating of quantitative acoustic tools into future diagnostic and therapeutic frameworks has the potential to enhance the objectivity and repro-ducibility of ED assessment.

Objective: This study aims to characterize the phenotypic spectrum and therapeutic outcome of patients with DYT-TOR1A of Indian and Asian origin.

Methods: A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG;p.Glu303del variant) from a tertiary care centre in India.

Results: 12 patients (11 males, 91.7%) were recruited with a median age at onset of 10.5 years (8-17years) and duration of five years (2months - 31years). All had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had onset in childhood, and limb-onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral GPi-DBS within a median duration of 4 years (2.5-6.5 years) from the onset with significant improvement.

Conclusion: This Indian patient cohort shows a strong male predominance and a consistent early involvement of the upper limbs. A shorter duration of illness with greater severity highlights the need for early recognition and potential surgical intervention.

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked disorder caused by pathogenic variants in WDR45 gene. Early diagnosis remains challenging due to nonspecific presentations in childhood. We report six pediatric patients with BPAN, identified through genetic testing performed during the evaluation of neurodevelopmental disorders. All were female and exhibited early developmental delay, severe language impairment, and varying degrees of motor dysfunction. Seizures occurred in four patients with varying severity. Two patients showed signs of central precocious puberty. Serum neuron-specific enolase was elevated in all tested patients. Brain MRI revealed corpus callosum thinning in all cases. Iron accumulation in the substantia nigra and globus pallidus was observed in only two older patients. WDR45 variants included two nonsense, two splice-site, one in-frame deletion, and one novel frameshift deletion. Our findings highlight early clinical features that may aid in recognizing BPAN prior to the emergence of distinctive MRI abnormalities or degenerative-phase manifestations.

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.