Movement Disorders Clinical Practice最新文献

Background: Patients with cerebellar disorders often experience fatigue and the cerebellar cognitive affective syndrome (CCAS), both of which impair quality of life (QoL). There are no approved treatments.

Objective: To test the hypothesis that stimulant medications improve fatigue and CCAS in patients with cerebellar disorders.

Methods: We administered a questionnaire to 20 patients with cerebellar disorders, assessing the impact of stimulant medications on nine domains: QoL, fatigue, alertness, verbal expression, thinking clearly, and multitasking, as well as emotional state, social interactions, and physical symptoms. Patients also completed the Patient-Reported Outcome Measure of Ataxia, Mental section (PROM-Ataxia MEN), rating symptoms before and during treatment.

Results: Patients perceived improvements in all domains, with 95% reporting improved alertness, 90% fatigue, and 80% executive control. PROM-Ataxia MEN scores improved by 26%.

Conclusions: These preliminary findings suggest that stimulants may be associated with perceived symptom improvements in cerebellar disorders. Given the small, heterogeneous sample and reliance on retrospective patient-report, further exploration is warranted.

Background: The nigrosome-1 (N1) sign on susceptibility-weighted imaging (SWI) typically disappears in Parkinson's disease (PD), though some patients can show uni-/bilaterally preserved N1.

Objective: Investigating whether visible nigrosomes in PD patients differ from those of healthy subjects (HC).

Methods: Forty-eight PD and 35 HC underwent 3 T-MR-SWI. The N1 was visually assessed, and visible N1 were segmented to calculate volume, area and susceptibility values. These metrics were investigated for distinguishing between visible nigrosomes-1 of PD patients and HC.

Results: Among PD patients, 16 had bilateral N1 loss and 32 had unilaterally (n = 27) or bilaterally (n = 5) preserved N1. The visible N1 were significantly smaller in PD than in HC (P < 0.001), while having similar susceptibility values (P = 0.251). N1 area and volume showed high performance (AUC: 0.97-0.98) in distinguishing PD from HC.

Conclusion: The measurement of volume and area of N1 region may complement visual assessment on SWI to optimize diagnostic performance in PD.

Background: DaxibotulinumtoxinA for injection (DAXI), a novel botulinum toxin (BoNT) formulated with a custom-engineered peptide, was recently approved for treating cervical dystonia (CD). DAXI demonstrated a long duration of symptom relief in Phase 3 trials.

Objective: To report findings from PrevU, an early experience, real-world observational program initiated following DAXI's FDA approval.

Methods: Movement disorder specialists were provided with DAXI to treat CD patients per routine clinical practice, and were surveyed on dosing patterns and treatment intervals across the first three cycles of DAXI as doses were optimized.

Results: A total of 234 CD patients (206 receiving BoNT treatment and 28 BoNT-naïve) received a total of 589 DAXI treatments. Among patients with prior BoNT therapy, breakthrough symptoms within 12 weeks of prior BoNT therapy was the most common reason for patient selection (76.2%), and onabotulinumtoxinA was the most common prior toxin (68.4%). DAXI dose was titrated from a mean of 244.4 U (median 250 U) to 314.7 U (median 300 U) by Cycle 3. The ratio of DAXI dose to normalized prior BoNT dose was approximately 1.1:1 at initiation and 1.4:1 at Cycle 3. The mean (SD) time to re-treatment across all DAXI cycles was 16.1 (5.6) weeks for all patients and 15.7 (4.5) weeks for patients with a history of breakthrough before 12 weeks with prior toxin. The most common adverse events were muscle weakness (2.4% of treatments), injection pain (1.4% of treatments), and dysphagia (0.3% of treatments).

Conclusions: In this real-world setting, DAXI demonstrated extended clinical benefit and a favorable safety profile.

Background: Motor overflow phenomenon has been described in a variety of neurodegenerative conditions. Often referred to in the literature as "mirror" movements, this phenomenon actually represents a motor overflow, typically involving the contralateral limbs. This phenomenon has not been previously characterized in the facial or jaw muscles.

Objectives: We aim to describe the motor overflow phenomenon in orofacial muscles.

Methods: We examined videos of patients with Parkinson's disease (PD) from our video library who were undergoing standard OFF and ON assessments for deep brain stimulation evaluation for any evidence of involuntary movements in the face or mouth.

Results: Of the evaluated patients, 32% showed evidence of mouth motor overflow movements upon activation by rapid sequential movements (RSM) in the limbs.

Conclusion: In this study designed to systematically evaluate patients with PD for mouth motor overflow movements, we found that a third of the patients exhibited this phenomenon.

Background: Adductor respiratory laryngeal dystonia (ARLD) is a rare focal dystonia with vocal fold closure during inspiration leading to stridor and dyspnoea.

Objectives: To characterize clinical features and outcomes of patients with ARLD at a tertiary movement disorders center.

Methods: A retrospective cohort study was conducted of patients with adductor respiratory laryngeal dystonia attending a botulinum toxin injection clinic.

Results: Nineteen patients were identified. Most were female (94.7%). Mean age of onset was 51.9 years (range 39-89). Comorbid movement disorders included laryngeal dystonia, cervical dystonia, blepharospasm, dystonic tremor, and Parkinson's disease. Median time from symptom onset to diagnosis was 3.0 years (IQR 2.0-15.0). 92.8% of injections with botulinum toxin were effective, although 46.2% were associated with adverse events.

Conclusions: ARLD is associated with diagnostic delay. Symptoms of stridor alongside other movement disorders may provide clues. Treatment with botulinum toxin is effective, though careful dosing is required.

Background: The sleep-wake cycle and the autonomic nervous system (ANS) can be impaired in neurodegenerative diseases.

Objectives: To describe sleep-wake cycle and circadian rhythms of body core temperature (BcT) and cardiovascular parameters in Progressive Supranuclear Palsy (PSP).

Methods: We prospectively recorded 48 hour video-polysomnography, BcT and blood pressure (BP) in 14 PSP patients (disease duration 5.9 ± 2.6 years) under controlled environmental conditions. We analyzed wake-sleep parameters and state-dependent modulation for BcT, BP and heart rate from the last 24 h of recording. Twelve healthy younger controls were used for comparison.

Results: Patients slept less than 5 hours/night with frequent awakenings, daytime naps were shorter than 60 minutes and mainly represented by light sleep resulting in a 24 h sleep deprivation. Patients with PSP slept less compared to younger controls and normative values for age. Only two patients reported excessive daytime sleepiness. There were no significant differences in sleep parameters according to the presence of sleep disorders. Compared to controls, patients showed significantly higher BcT values during wake and sleep. Twelve patients presented an abnormal BP pattern at nighttime.

Conclusion: PSP patients experienced profound sleep deprivation across the 24 h study period. An imbalance between sympathetic and parasympathetic function with sympathetic predominance may be associated with this alteration. Whether this autonomic dysfunction is the primary drive for the sleep-wake cycle disruption or the consequence of sleep loss needs to be elucidated.