Journal of Movement Disorders最新文献

Background: Continuous subcutaneous foslevodopa/foscarbidopa infusion (CSFLI) represents a transformative therapy for advanced Parkinson's disease (aPD), but real-world neuropsychiatric safety data remain limited, particularly in populations typically excluded from trials. Objective: To assess the frequency, clinical patterns, and predictors of neuropsychiatric and/or cognitive worsening in a real-world CSFLI-treated cohort.

Methods: We performed a retrospective observational study of 36 consecutive aPD patients initiating CSFLI with six-month follow-up. Neuropsychiatric/cognitive worsening was defined as any clinically meaningful increase in MDS-UPDRS Part I or PDQ-8 cognitive/psychiatric subscores. Patients were classified as "worsening" versus "no worsening" and compared for baseline characteristics. Predictors were identified using univariable and exploratory multivariable analyses.

Results: Seventeen patients (47.2%) experienced neuropsychiatric/cognitive worsening within six months. Critically, patients with prior confusion or hallucinations who were managed with baseline clozapine had significantly better outcomes: confusion history 57.9% in stable group versus 11.8% in worsening group (p=0.006); clozapine use 63.2% versus 23.5% (p=0.023). Conversely, COMT inhibitor (COMT-I) use was more frequent in the worsening group (70.6% vs 21.1%, p=0.006). Motor outcomes remained stable at 6 months regardless of neuropsychiatric status.

Conclusions: In a vulnerable real-world aPD population, neuropsychiatric/cognitive worsening under CSFLI was more frequent than in pivotal trials (47% vs 7-17%) but generally mild and without motor deterioration. Importantly, proactive clozapine use enabled safe CSFLI treatment in patients with psychiatric histories traditionally considered high-risk. COMT-I emerged as a modifiable risk factor. Findings support broader CSFLI use with structured neuropsychiatric monitoring and proactive clozapine in selected patients.

Objective: In late-stage Parkinson's disease (PD), wheelchair mobility becomes essential, yet little is known about endurance and efficiency. For individuals who struggle with manual wheelchair (MW) propulsion, a cycling wheelchair (CW) may provide an alternative. This study compared endurance and efficiency between MW and CW during continuous driving, including turning tasks in late-stage PD.

Methods: Nine participants with late-stage PD performed the 6-Minute Push Test using both MW and CW. Total distance, average speed, and the Physiological Cost Index (PCI) were measured. PCI was calculated from pre- and post-driving heart rates.

Results: CW resulted in significantly greater total distance and lower PCI than MW, and similar patterns were observed in participants at Hoehn and Yahr stage V (n = 6).

Conclusion: CW use may enable more enduring and efficient mobility than MW use in late-stage PD. Further studies are needed to validate these preliminary findings.

Objective: Impact of statin use on progression and survival in Parkinson's disease (PD) remains unclear; limited evidence in Asian populations. This study aims to assess association between statin prescription, cumulative dosage, and all-cause mortality in PD.

Methods: This retrospective cohort study was conducted using a population-based sample from the Korean National Health Insurance Service (KNHIS) claims database. The study included 3,152 adults diagnosed with PD, with history of statin use and cumulative dose information obtained from claims records. Data were collected from the KNHIS database, and all eligible participants were followed longitudinally to ascertain all-cause mortality. The primary outcome was all-cause mortality, and the exposures were statin use (yes or no) and cumulative dose. The analysis was conducted using Cox proportional hazards regression, adjusted for relevant covariates.

Results: Statin use associated with lower all-cause mortality risk (hazard ratio [HR], 0.600; 95% CI, 0.521-0.691). Among statin users, higher cumulative statin dose linked to further mortality reduction (HR, 0.800; 95% CI, 0.761-0.842).

Conclusions: Statin use and higher cumulative exposure were associated with reduced all-cause mortality in patients with Parkinson's disease, and these findings suggest a potential survival benefit and warrant further investigation in diverse populations.

Background: Brain-derived neurotrophic factor (BDNF) has been suggested to support dopaminergic neuron's endurance and dopamine release. Its Val66Met polymorphism might modify Parkinson's disease (PD) evolution, although evidence in Asian populations remains limited. This study aimed to explore how the BDNF rs6265 genotypes are associated with the clinical characteristics and longitudinal progression patterns of PD patients in a Korean population.

Methods: A total of 247 patients were enrolled and followed for a mean duration of 50.9 ± 23.9 months. Baseline and/or periodic assessments captured motor severity, non-motor burden, cognition, orthostatic stress, cardiac denervation, and presynaptic dopamine transporter availability. The repeated measures were manipulated to infer any genotypic differences in the trajectories of each clinical domain.

Results: Genotype frequencies were 31.2% (77/247) for Val/Val and 68.8% (170/247) for Met-allele carriers. Baseline clinical characteristics and presynaptic dopamine transporter availability were comparable between genotypes; however, Val homozygotes showed more preserved myocardial innervation and poorer non-frontal cognitive performance. Longitudinal analyses demonstrated genotype-specific increases in motor and cognitive severity. Compared to Met-allele carriers, the homozygous Val group exhibited accelerated motor progression and more rapid decline in frontal domain after three years of follow-up.

Conclusions: The differences in myocardial denervation at diagnosis, cognitive profiles, and motor progression might suggest a potential modulatory role of BDNF polymorphism in PD progression in the Korean population.

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.