Neurodegenerative disease management最新文献

Objective: To investigate the utility of quantitative MRI parkinsonism indices in discriminating between progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) patients.

Methods: In our study including PSP and MSA patients, we calculated the radiological measures including superior cerebellar peduncle width, middle cerebellar peduncle width, third ventricle width, 3rdV/bifrontal width, pons/mesencephalon (P/M) ratio, P/M ratio 2.0, magnetic resonance parkinsonism index (MRPI), and MRPI 2.0 values. We also constituted a PMS scale to increase the discrimination power.

Results: Comparisons between PSP and MSA patients revealed significant differences in the mesencephalon area, third ventricle width, 3rdV/bifrontal width, P/M ratio, P/M ratio 2.0, MRPI, and MRPI 2.0 values (p < 0.01 for all). The AUC values were acceptable for the third ventricle width, the 3rdV/bifrontal width ratio, the P/M ratio, the P/M 2 ratio, the MRPI and the MRPI-2. In distinguishing PSP, 0 points on the PMS scale had a negative predictive value (NPV) of 91%, whereas 3 points had a positive predictive value (PPV) of 85.7%.

Conclusion: None of the MRI parameters reached a good diagnostic AUC in distinguishing PSP from MSA. However, the PMS scale we propose in this study may provide high PPVs and NPVs for differential diagnosis during desk-based evaluation.

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.

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.