Vaibhav Oberoi1, Jagjot Singh2, Kevin Morris3, Shruti Agnihotri4, Ghaida Zaid5
1NEXTGEN Precision Health, University of Missouri School of Medicine, Columbia, 2Government Medical College and Hospital, Amritsar, 3Morris Lifesciences, Innovation and Research Center, Nagpur, IND, 4University of Alabama, Birmingham, 5University of Tennessee Medical Center, Knoxville
Objective:
This study aims to correlate the heterogeneity in the clinical presentations of Anti-IgLON5 disease with the time to diagnosis.
Background:
Anti-IgLON5 disease is an uncommon autoimmune disorder characterized by autoantibodies
targeting the IgLON5 protein. Clinical manifestations include movement disorders, bulbar dysfunction, sleep dysfunction, and neurocognitive impairment. The heterogeneous presentation can cause delay in diagnosis.
Design/Methods:
A systematic search of literature published over the last decade was conducted in September 2024, using databases such as PubMed and Google Scholar. We included 51 articles from 101 initially identified, excluding those not meeting study criteria (e.g., non-English publications, incorrect outcomes). The search keywords included "Anti-IgLON5 disease," "Clinical Presentation," "IgLON-5 Protein," and "Autoimmune Encephalitis."
Results:
34 cases from 30 publications were identified. Clinical manifestations were diverse, with movement disorders (85%) as the most common presentation. Sleep disorders were reported in 70% of cases. Bulbar dysfunction appeared in 67% of cases, and neuropsychiatric symptoms were observed in 21 patients (62%). Additional symptoms included oculomotor apraxia, seizures, vertigo, and headache. The prevalence of disease was predominantly seen in males (70%), with a mean age at diagnosis as 61.5 years (range 13-87). A detailed analysis for 29 cases was done and a mean delay in diagnosis was analyzed to be 1.9 years (range 3 days to 11 years). The cases with bulbar symptoms onset took maximum time to diagnosis i.e. 4.5 years, followed by cases with movement and psychiatric symptoms onset around 1.7 years and patients with sleep abnormalities as the initial presentation took 1.5 years. It was observed that the cases which presented with >2 symptoms at the initial presentation were diagnosed 12 months earlier than those presenting purely with one symptom.
Conclusions:
Anti-IgLON5 disease presents with a wide spectrum of neuropsychiatric symptoms, often leading to delayed diagnosis and treatment. Increasing clinical awareness, will facilitate the timely diagnosis and management.
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.