Neurodegenerative disease management最新文献

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.

Background: In this pilot safety study, we hypothesized that a human bone marrow stem cell-derived extracellular vesicle (hBM-MSC EV) investigational product (IP) would be safe and exhibit potential efficacy in amyotrophic lateral sclerosis (ALS) patients.Methods: Ten ALS patients received two 10-ml intravenous infusions of the IP given 1 month apart and evaluated over 3 months.Results: There were no serious adverse events or adverse events related to the IP and 30% of subjects' ALS functional rating scale-revised (ALSFRS-R) scores did not decline.Conclusion: HBM-MSC EVs appear safe in ALS patients. This early investigation suggests a controlled study of EVs for the treatment of ALS is warranted.

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.

Aim: Evidence suggests low-carbohydrate diets (LCHF) may assist in treating neurodegenerative diseases such as Parkinson's disease (PD); however, gaps exist in the literature.Patients & methods: We conducted a small 24-week pilot study to investigate the effects of an LCHF diet on motor and nonmotor symptoms, health biomarkers, anxiety, and depression in seven people with PD. We also captured patient experiences during the process (quality of life [QoL]).Results: Participants reported improved biomarkers, enhanced cognition, mood, motor and nonmotor symptoms, and reduced pain and anxiety. Participants felt improvements enhanced their QoL.Conclusion: We conclude that an LCHF intervention is safe, feasible, and potentially effective in mitigating the symptoms of this disorder. However, more extensive randomized controlled studies are needed to create generalizable recommendations.