Neurodegenerative disease management最新文献

Aim: This prospective, multicenter, open-label, noninterventional 12-week study investigated the effectiveness and tolerability of add-on nabiximols oromucosal spray (Sativex^®) in the real-world setting in Germany. Patients & methods: The main analysis set comprised 51 adult patients (49 nabiximols responders) with multiple sclerosis (MS) spasticity. Results: The mean overall goal attainment scale score (primary outcome measure) increased by 46% from baseline to week 12 (35.2 vs 51.4; p < 0.001). Mean gait speed was improved by 23% at 4 and 12 weeks. Clinically meaningful improvements in mean 0-10 numerical rating scale scores for spasticity, pain, sleep quality and urinary bladder dysfunction were recorded at 4 and 12 weeks. Conclusion: Nabiximols is a useful therapeutic option for patients with MS spasticity.

Aim: Studying the effects of self-paced concurrent high-intensity interval training and resistance training (HIIT-RT) on respiratory function, cardiopulmonary fitness and fatigue perception in patients with multiple sclerosis (PwMS).Methods: Twenty-three PwMS were randomized into a 12-week training group (three times per week) (TG, n = 11) or a control group (CG, n = 12). Lung function (spirometry), aerobic capacity (graded cardiopulmonary-exercise-testing) and perceived fatigue (Fatigue Severity Scale (FSS)) were evaluated pre- and post-intervention.Results: The forced vital capacity (p = 0.036, Hedges'g (g) = 0.93), forced expiratory time (p = 0.045, g = 0.88), peak expiratory flow (p = 0.043, g = 0.89) increased in TG compared with CG. The TG showed an increase in peak aerobic power (p = 0.004, g = 1.34) and peak oxygen uptake (p < 0.001, g = 2.58) compared with CG. There was a decrease in ventilatory equivalent for carbon dioxide (p = 0.02, g = 1.02) and FSS scores (p < 0.001, g = 1.72) in TG comparatively with CG.Conclusion: 12-week self-paced HIIT-RT enhanced lung function as well as aerobic fitness, and alleviated fatigue perception in PwMS.

Interdisciplinary care is increasingly promoted to enhance satisfaction and outcomes for individuals with complex medical conditions, such as Parkinson's disease (PD). However, there is little research on the feasibility or efficacy of interdisciplinary care in clinical settings. And, while the use of an integrated team of allied health professionals has the potential to provide significant health benefits to individuals with PD, there are educational and logistical barriers to the use of interdisciplinary care in clinical settings. An interdisciplinary care model was described that aimed to facilitate these benefits and alleviate some of these known clinical feasibility challenges. Three cases are also provided to exemplify how this approach to collaborative care was used to address individual needs and to highlight some of the successes and challenges associated with the implementation of an interdisciplinary and person-centered care model via telehealth. These cases may help clinicians adopt techniques to facilitate greater collaboration across disciplines or aid in the development of a feasible interdisciplinary program in their own clinics. Further research is needed to further enhance individual outcomes and integrate other disciplines into the care team.

Aim: Multiple system atrophy (MSA) and CASPR2 antibody-associated disease bear their own characteristics.Case presentation: A 58-year-old woman presented with a 26 months history of uncoordinated gait and slurred speech. Her serum was positive for anti-CASPR2 antibodies, and MRI revealed atrophy of the brainstem and cerebellum. She underwent three plasma exchanges (PE) and received high doses of corticosteroids without any apparent effect. Her autonomic dysfunction improved after repetitive transcranial magnetic stimulation. Eventually, a diagnosis of MSA-cerebellar phenotype(MSA-C) was made.Conclusion: With increased availability of tools for neuron antibody detection, physicians need to be aware of the possibility that antibodies may accompany other diseases. This report underscores the modern dilemmas caused by available and extensive neuron antibody testing.

Nosocomial infections during immunotherapy pose a dilemma in the treatment of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, where a lack of consensus guidelines for this rare disease marks a significant gap in the existing knowledge. This case reports about an 18-year-old female diagnosed with anti-NMDAR encephalitis who was found to be refractory to first- and second-line treatment. During her hospital stay, the patient encountered nearly six episodes of infection, which delayed the use of next-line intervention. It was observed that switching over to the next line of treatment during infections may produce sub-therapeutic outcomes. Thereby, the case highlights the need for de-escalation and appropriate selection of immunosuppression therapy during nosocomial infections and how monotherapy with the patient-tolerated first-line agent can be appropriate during infection.

Aim: To identify and raise awareness of healthcare service gaps for individuals with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).Materials & methods: An ALSP patient journey map from symptom onset throughout disease course was developed using existing literature, patient and clinician feedback from a structured workshop and community survey data regarding attitudes toward genetic testing.Results: ALSP diagnosis is frequently delayed due to low awareness of this rare condition and symptom overlap with more common neurological conditions. Multiple factors impact patients' decision-making regarding genetic testing for ALSP, symptom management and participation in research studies.Conclusion: These results highlight the challenges faced by individuals with ALSP and should support program development to improve patient care.

Deep brain stimulation (DBS) has been established as an effective neuromodulatory treatment for Parkinson's disease (PD) with motor complications or refractory tremor. Various DBS devices with unique technology platforms are commercially available and deliver continuous, open-loop stimulation. The Percept™ family of neurostimulators use BrainSense™ technology with five key features to sense local field potentials while stimulating, enabling integration of physiologic data into the routine practice of DBS programming. The newly approved Percept™ rechargeable RC implantable pulse generator offers a smaller, thinner design and reduced recharge time with prolonged recharge interval. In this review, we describe the application of local field potential sensing-based programming in PD and highlight the potential future clinical implementation of closed-loop stimulation using the Percept™ RC implantable pulse generator.

Aim: To determine whether walking performance differed between people with multiple sclerosis (MS) who performed distinct types, volumes and intensities of exercise.Materials & methods: Forty-five people with relapsing-remitting MS performed two trials of the 2-min walk test, one at a preferred speed and another at a fast speed. Gait metrics were measured by wireless inertial sensors. Participants reported the type (aerobic, resistance), volume and intensity of exercise performed.Results: Walking speed reserve and gait variability were better in participants who performed combined aerobic and resistance exercises compared with those who performed aerobic-only exercise.Conclusion: Walking performance differs in people with mild MS disability based on the type and volume of exercise performed.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition affecting the motor system. The heterogenous nature of ALS complicates trial design. Genetic forms of ALS present an opportunity to intervene in a less heterogeneous population. ALS associated with gain of function mutations in SOD1 make 'knock-down' strategies an attractive therapeutic approach. Tofersen, an antisense oligonucleotide that reduces expression of SOD1 via RNAase mediated degradation of SOD1 mRNA, has shown robust effects on ALS biomarkers. While a Phase III trial of tofersen failed to meet its primary end point, open label extension data suggests that tofersen slows progression of SOD1 ALS.