Neurodegenerative disease management最新文献

Background: In this study, we aimed to investigate the clinical features of a large group of patients with Parkinson's disease (PD), paying particular attention to the nonmotor symptom (NMS) load. Secondly, we aimed to investigate the clinical correlates of NMSs using the results of various clinical assessments.

Methods: Data from all PD patients who visited our movement disorders clinic between January 2023 and March 2024 were retrospectively reviewed. We included the data of all patients whose information regarding clinical features and extensive scale results were available.

Results: Overall, we included data from 285 PD patients with a mean age of 64.5 ± 10.0 years (F/M = 119/166). The median scores of the MDS-UPDRS subparts were 9 for MDS-UPDRS-1 and 30 for MDS-UPDRS-3 (off). The median NMSS score was 38 (range: 229), and 46% of the patients had severe to very severe disease in terms of NMS burden. The regression analyses revealed the MDS-UPDRS 3 score, FES-I score, and RBD (0.9772 + 0.453*MDS-UPDRS 3 + 0.724 * FES-I + 15.192*RBD) as predictors of the NMS scale.

Conclusions: We found a very high NMS burden in our PD cohort. Remarkably, RBD, motor stage, and concern about falling were found to correlate with NMS load.

Aim: To investigate the levodopa response (LDR) in a detailed manner in Parkinson's disease (PD) patients with and without STN-DBS. In this respect, we sought to evaluate the effect of LDR on distinct motor symptoms one by one.

Methods: The data of all consecutive PD patients who visited our movement disorders outpatient clinics at Etlik City Hospital between January 2023 and January 2024 were retrospectively evaluated. We enrolled patients whose full clinical assessments were available. The LDR was evaluated according to a previously described method.

Results: We included 194 PD patients in this study [49 STN-DBS (+) patients, 145 STN-DBS (-) patients]. The disease duration was greater in the STN-DBS group, as expected (12 y, 5 y, p = 0.00). The LDR ratios for the total score and subitem scores of the MDS-UPDRS-3 were similar between the patient groups. All the subscores of the MDS-UPDRS-3 were significantly lower for the 'ON' medication state than for the 'OFF' medication state in both patient groups.

Conclusions: We demonstrated similar LDR rates for all motor subitems in patients with and without STN-DBS in a detailed manner. Our findings demonstrate the benefit of dopaminergic treatment on distinct motor symptoms in patients with STN-DBS.

Aims: To describe the 12-month effectiveness, persistence, tolerability, and safety of ofatumumab (OMB), a highly effective disease-modifying therapy (DMT) for relapsing multiple sclerosis (MS), in a real-world MS population.

Patients & methods: Electronic medical records of patients starting OMB from October 2020 to August 2022 at two comprehensive MS centers were reviewed. Demographics and disease characteristics and 6- and 12-month clinical, patient-reported, and radiologic outcome measures were analyzed.

Results: A total of 175 patients started OMB with mean age 44.9 (SD 10.4) and disease duration 13.6 (SD 9.6) years. The cohort was 74% female, included 81% White and 13% Black American patients, and consisted of 80% relapsing-remitting MS or clinically isolated syndrome. Most (87%) had prior DMT exposure with 38% switching from high efficacy DMT. Over 12 months, 9.7% discontinued OMB (mean 117 days, SD 99.2), with tolerability issues being the most common reason. Thirty-nine (22%) had relapses in the year before starting OMB. By 12 months, only 1 relapse had occurred after approximately 4 months post-treatment initiation.

Discussion: This real-world study demonstrated that OMB is highly effective with robust persistence and good safety and tolerability by 12-month follow-up. Further analyses are planned to examine longer-term outcomes.

Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the FXN gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the FXN gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient. In this review, we propose explanations for such phenotypes based on the potential for activities of frataxin other than enhancement of iron-sulfur cluster synthesis, as well as crucial future experiments for fully understanding the role of frataxin in cells.

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.