Journal of Movement Disorders最新文献

Objective: Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.

Methods: All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.

Results: The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.

Conclusion: We expand the literature on CSF1R-L patients from India by reporting four new cases.

Objective: We aimed to investigate the associations of the triglyceride-glucose index, which measures insulin resistance, and the incidence of Parkinson's disease.

Methods: Our study used the Health Screening Cohort database of the National Health Insurance Service of South Korea (2002-2019). We included 310,021 participants who had no previous history of Parkinson's disease and for whom more than 3 triglyceride-glucose index measurements were available. A diagnosis of Parkinson's disease was determined via the International Classification of Diseases Tenth edition (G20) with a specific reimbursement code for rare intractable diseases and a history of prescriptions for anti-Parkinsonism drugs.

Results: During a median of 9.64 years (interquartile range 8.72-10.53), 4,587 individuals (1.5%) had Parkinson's disease. Based on a multivariable time-dependent Cox proportional hazards model, a per-unit increase in triglyceride-glucose index score was associated with a significantly increased risk of Parkinson's disease (hazard ratio [HR]: 1.062; 95% confidence interval [CI] 1.007-1.119). In a sensitivity analysis, the triglyceride-glucose index was associated with the incidence of Parkinson's disease in a non-diabetes mellitus cohort (HR: 1.093; 95% CI 1.025-1.165), but not in the diabetes mellitus cohort (HR: 0.990; 95% CI 0.902-1.087). In a restricted cubic spline analysis, the association between the triglyceride-glucose index and the incidence risk of Parkinson's disease showed a nonlinear increasing (J-shaped) trend.

Conclusion: Our study demonstrated that higher triglyceride-glucose index scores were associated with the incidence of Parkinson's disease in the general population, particularly in a nondiabetic mellitus cohort.

Objective: Oculomotor impairment is an important diagnostic feature of progressive supranuclear palsy (PSP) and PSP subtypes. We assessed the role of video-oculography (VOG) in confirming clinically suspected slow saccades in PSP and differentiating PSP from Parkinson's disease (PD). We also measured the correlation of both saccadic velocity and latency in PSP patients with scores on the PSP Rating Scale, Montreal Cognitive Assessment, and frontal assessment battery. We assessed the frequency of apraxia of eyelid opening (ALO) and reflex blepharospasm in PSP and PD patients.

Methods: A total of 112 PSP patients with slow saccades but not gaze palsy, 50 PD patients, and 50 healthy controls (HCs) were recruited. The Movement Disorders Society task force-PSP and PD criteria were used for the diagnoses. All the subjects underwent VOG.

Results: Horizontal and vertical saccadic velocities and latencies differentiated PSP patients from PD patients and HCs (p<0.001). Vertical saccadic velocity and latency accurately differentiated PSP with predominant parkinsonism (PSP-P) patients from PD patients (p<0.001 and 0.012, respectively). A couple of vertical and horizontal saccadic velocities differentiated PSP-Richardson's syndrome (PSP-RS) patients from PSP-P patients (vertical velocity of left eye: p=0.024; horizontal velocity of right eye: p=0.030). In vertical gaze, the mean velocity cutoff showed good sensitivity and specificity in differentiating PSP patients from HCs and PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse global cognitive and frontal dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.

Conclusion: VOG is useful for confirming slow saccades in PSP-RS and PSP-P patients and for differentiating PSP-P patients from PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse cognitive dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.

Objective: Gaits constitute the most fundamental and common form of human locomotion and are essential in daily activities. We aimed to investigate gait parameters in medically and cognitively healthy older adults to determine the independent effects of age, physical attributes, and cognition on these parameters.

Methods: This retrospective study enrolled healthy older adult participants aged 50 years or older with normal cognition and no neurological symptoms or medical/surgical history that could affect gait. Quantitative gait analysis was conducted via the GAITRite Electronic Walkway, which categorizes gait parameters into spatiotemporal, spatial, temporal, phase, and variability. Gait parameters were compared between sexes across different age groups. The independent effects of age, Mini-Mental State Examination score, and physical characteristics were analyzed via a multiple regression model.

Results: This study included 184 participants with an average age of 72.2 years. After adjusting for age, height, and footwear, only the base width and its variability differed between the sexes. Gait parameters varied significantly among different age groups, revealing multiple interparameter associations. Age was independently correlated with decreased velocity, step and stride lengths, single support time percentage and increased double support time, double support time percentage, and variability parameters, excluding the coefficient of variance of base width. Height was positively correlated with velocity, step and stride lengths, and base width, whereas leg length was negatively associated with cadence and positively associated with temporal parameters of gait.

Conclusion: Gait parameters in healthy older adults were not only associated with age and physical characteristics but also had interparameter correlations.

Objective: We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in patients with ataxia due to spinocerebellar degeneration (SCD).

Methods: Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was the change in the Korean version of the Scale for the Assessment and Rating of Ataxia (K-SARA) score at 24 weeks. The secondary endpoints included changes in the K-SARA score at 4 and 12 weeks as well as the Clinical Global Impression Scale, the five-level version of the EuroQol five-dimensional questionnaire, the Tinetti balance test, and gait analysis at 4, 12, and 24 weeks.

Results: A total of 149 patients (hereditary:nonhereditary=86:63) were enrolled. There were significant differences in the change in the K-SARA score at 24 weeks from baseline between the taltirelin group and the control group (-0.51±2.79 versus 0.36±2.62, respectively; p=0.0321). For the K-SARA items, the taltirelin group had significantly lower "Stance" and "Speech disturbance" subscores than the control group (-0.04±0.89 versus 0.23±0.79 and -0.07±0.74 versus 0.18±0.67; p=0.0270 and 0.0130, respectively). However, there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p>0.05).

Conclusion: Clinicians might consider the use of TH in the treatment of patients with ataxia due to SCD.