Citations

Abstract Anti-IgLON5 disease is an autoimmune encephalitis that presents with a heterogenous clinical phenotype, including sleep disorders, movement abnormalities and bulbar involvement. It is characterized by autoantibodies against IgLON5, 85% association with HLA-DQB1*05:∼ and a brainstem-dominant tauopathy. Cellular and murine models report pathogenic effects of the autoantibodies, and neurodegenerative factors suggest progressive atrophy as a common sequela. However, evidence from in vivo patient data and long-term follow-up is limited, and the degree of progression remains elusive. In this multicentre study, clinical and brain MRI data were collected from 127 patients across 12 countries to investigate the relationships between clinical presentations and the development of distinct brain atrophy patterns. Our data show that most patients develop a complex multisystem phenotype as the disease progresses; however, neuromuscular manifestations rarely emerge at later disease stages. By comparison to healthy controls, this disease presents with severe substructure-specific atrophy, especially affecting the hypothalamus, brainstem, accumbens and basal ganglia, which, in age-independent analyses, show significant ventricular enlargement and also suggest progression of brainstem atrophy over the disease course. Moreover, the focality of atrophy was functionally linked to specific symptoms, with more severe involvement of the basal ganglia in patients with movement disorders, and greater atrophy in the hippocampus and thalamus in patients with cognitive impairment. Taken together, our results provide evidence of distinct atrophy patterns in anti-IgLON5 disease, which closely mirror sites of pathophysiologic processes, including autoantibody binding and tau deposition. Our data emphasize the brainstem as the pathophysiological hub of the disease and provide normative data for the incorporation of atrophy measurements into routine clinical assessments and future treatment studies to monitor disease trajectory and evaluate future treatment strategies.

Background and aims Percutaneous endoscopic gastrostomy (PEG) is an essential procedure for patients who require long-term enteral nutrition but are unable to eat orally. However, it carries a risk of bleeding, particularly in patients on anticoagulation or dual antiplatelet therapy (DAPT). This study aimed to assess the bleeding risk associated with continuing anticoagulation or DAPT during PEG placement. Methods Using the TriNetX US Collaborative Network Database, we analyzed four cohorts: patients on anticoagulants, patients not on anticoagulants, patients on DAPT, and patients on aspirin (ASP), focusing on gastrostomy-related bleeding within 7 and 30 days, along with secondary outcomes such as mortality and the need for blood transfusion or endoscopic reintervention. Results Our analysis showed no statistically significant difference in the 7-day bleeding risk between the anticoagulant and no anticoagulant groups. However, a higher 30-day bleeding risk was observed in the anticoagulant group (0.9 vs. 0.4%, P = 0.007). There was no significant difference in the incidence of severe bleeding events requiring endoscopic intervention or blood transfusion. In addition, the difference in the bleeding risk between the DAPT and ASP groups was not statistically significant within 7 and 30 days. Conclusion These findings suggest that while anticoagulant use increases the risk of minor post-PEG bleeding, it does not lead to a higher incidence of severe bleeding. Additionally, the continuation of DAPT was not associated with statistically significant increase in bleeding risk. This study provides valuable insights into the management of antithrombotic therapy in patients undergoing PEG.