Abstract Details

Title Anti-IGLON5 Disease: Time to Diagnosis Based on Clinical Presentation

Topic Autoimmune Neurology

Presentation(s) P5 - Poster Session 5 (8:00 AM-9:00 AM)

Poster/Presentation
Number 8-008

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.

Authors/Disclosures
Vaibhav Oberoi, MBBS (K. D. Ganesha Hospital, Amritsar, Punjab.) PRESENTER	Dr. Oberoi has nothing to disclose.
Jagjot Singh, MBBS	Dr. Singh has nothing to disclose.
Kevin Morris, MBBS	Dr. Morris has nothing to disclose.
Shruti P. Agnihotri, MD	An immediate family member of Dr. Agnihotri has stock in Pfizer. The institution of Dr. Agnihotri has received research support from Roche/ Genentech.
Ghaida K. Zaid, MD	Dr. Zaid has nothing to disclose.

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