Neurodegenerative disease management最新文献

Neurofilament light chain (NfL) is a promising biomarker for neurodegenerative diseases, measurable in both CSF and blood upon neuroaxonal damage. While CSF analysis was traditionally used, blood-based assays now offer a less invasive alternative. NfL levels correlate with disease severity and progression in conditions like Alzheimer's disease, amyotrophic lateral sclerosis, multiple sclerosis and Huntington's disease. Clinical trials demonstrate its utility as a pharmacodynamic biomarker in MS and ALS. The FDA's approval of Tofersen for SOD1-ALS based on NfL reduction underscores its growing acceptance as surrogate marker. However, challenges remain in standardizing assays, interpreting clinical correlations, low specificity and understanding the dynamics between CSF and blood NfL levels. Addressing these issues is crucial for maximizing NfL's potential in neurodegenerative disease management.

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.

What is this summary about?: This summary explains the findings of a recent study that compared different questionnaires used by doctors to measure levels of fatigue in people with multiple sclerosis (MS). The aim of the study was to find out which questionnaire doctors should use to measure fatigue in people with MS in the future. Fatigue, which can be described as the overwhelming feeling of tiredness or exhaustion, is a very common symptom of MS. For the majority of people with MS, fatigue is one of the worst symptoms of MS, so it is essential that doctors can measure it accurately. Currently, people with MS are asked to complete questionnaires so that their care team can see the effect of fatigue on their day-to-day lives. There are many questionnaires that are used to measure fatigue in people with MS. It would be valuable to come to an agreement, based on evidence from research like this study, on which questionnaire is the most appropriate for measuring fatigue in both research and healthcare settings. This study compared a questionnaire called the PROMIS^® Fatigue (MS) 8a, referred to throughout this summary as the PROMIS^® MS Fatigue Short Form, with two of the most commonly used questionnaires: the Fatigue Severity Scale (FSS) and the Modified Fatigue Impact Scale (MFIS). The questionnaires were compared to see which one should be recommended to doctors for measuring fatigue in people with MS.

What are the key takeaways?: It was found that while all three questionnaires were good, the PROMIS^® MS Fatigue Short Form questionnaire was better than the other two questionnaires at showing differences in levels of fatigue between people with MS. The PROMIS^® MS Fatigue Short Form was also found to be better than the Fatigue Severity Scale (FSS) at showing changes in the person with MS's level of fatigue. The PROMIS^® MS Fatigue Short Form questionnaire may help people with MS to better communicate challenges with their fatigue to their doctors.

What was the main conclusion reported by the researchers?: The study suggests that the PROMIS^® MS Fatigue Short Form questionnaire is a helpful tool for doctors and people with MS to measure fatigue.

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.

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: 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.

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.