Michael Gilligan, Smathorn Thakolwiboon, Emma Orozco, Samantha Banks, Eoin P. Flanagan, Sebastian Lopez-Chiriboga, Jan-Mendelt Tillema, John R. Mills, Sean J. Pittock, Cristina Valencia Sanchez, Anastasia Zekeridou, Divyanshu Dubey, Andrew McKeon
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Frequent presenting features were ≥1: diplopia (80%), ataxia (78%), dysarthria (68%), vestibulocochlear symptoms (67%), dysphagia (61%), nausea/vomiting (42%), and facial weakness (32%). Altered mental status (11%) was uncommon. Neural antibodies detected were as follows: KLHL-11 (26 patients), GAD65 (high titer, 12), ANNA-1 (anti-Hu, 8), ANNA-2 (anti-Ri, 8), Ma2 (7), IgLON-5 (6), AQP4 (6), MOG (4), glycine receptor (4), GQ1B (4), PCA-1 (anti-Yo, 4), DPPX (2), neurochondrin (2), neurofilament (2), NMDA-R (2), AGNA-1 (SOX-1, 1), ANNA-3 (DACH1, 1), amphiphysin (1), CRMP-5 (1), ITPR-1 (1), PCA-Tr (DNER, 1), and PDE10A (1). Cancer was identified in 55 patients: germ cell (23 patients; 3 extra-testicular), ductal breast adenocarcinoma (8), small cell carcinoma (6, lung 4), adenocarcinomas (6), neuroendocrine carcinoma (3), hematologic (2), squamous cell (2), and other (7). Median modified Ranking score (mRS) at last follow-up was 3 (range, 0–6). Factors associated with poor outcome included abnormal brain MRI, bulbar symptoms, and elevated CSF IgG index. Kaplan–Meier analysis revealed faster progression to wheelchair in patients who were immunotherapy refractory and with elevated CSF IgG index. Diagnostic criteria for autoimmune brainstem encephalitis (definite and probable) are proposed.</p>\n </section>\n \n <section>\n \n <h3> Interpretation</h3>\n \n <p>Autoimmune brainstem encephalitis is a distinct clinical subphenotype of autoimmune encephalitis. Abnormal brain MRI, bulbar symptoms, and elevated CSF-IgG index associate with poor outcome.</p>\n </section>\n </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"213-225"},"PeriodicalIF":4.4000,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752097/pdf/","citationCount":"0","resultStr":"{\"title\":\"Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria\",\"authors\":\"Michael Gilligan, Smathorn Thakolwiboon, Emma Orozco, Samantha Banks, Eoin P. Flanagan, Sebastian Lopez-Chiriboga, Jan-Mendelt Tillema, John R. Mills, Sean J. 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Neural antibodies detected were as follows: KLHL-11 (26 patients), GAD65 (high titer, 12), ANNA-1 (anti-Hu, 8), ANNA-2 (anti-Ri, 8), Ma2 (7), IgLON-5 (6), AQP4 (6), MOG (4), glycine receptor (4), GQ1B (4), PCA-1 (anti-Yo, 4), DPPX (2), neurochondrin (2), neurofilament (2), NMDA-R (2), AGNA-1 (SOX-1, 1), ANNA-3 (DACH1, 1), amphiphysin (1), CRMP-5 (1), ITPR-1 (1), PCA-Tr (DNER, 1), and PDE10A (1). Cancer was identified in 55 patients: germ cell (23 patients; 3 extra-testicular), ductal breast adenocarcinoma (8), small cell carcinoma (6, lung 4), adenocarcinomas (6), neuroendocrine carcinoma (3), hematologic (2), squamous cell (2), and other (7). Median modified Ranking score (mRS) at last follow-up was 3 (range, 0–6). Factors associated with poor outcome included abnormal brain MRI, bulbar symptoms, and elevated CSF IgG index. Kaplan–Meier analysis revealed faster progression to wheelchair in patients who were immunotherapy refractory and with elevated CSF IgG index. 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Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria
Objective
We describe neurologic phenotype, clinical associations, and outcomes in autoimmune brainstem encephalitis.
Methods
Medical records of neural-IgG positive autoimmune brainstem encephalitis patients diagnosed at Mayo Clinic (January 1, 2006–December 31, 2022) were reviewed.
Results
Ninety-eight patients (57 male) were included. Median age of symptom onset was 51 years (range, 8 months-85 years). Frequent presenting features were ≥1: diplopia (80%), ataxia (78%), dysarthria (68%), vestibulocochlear symptoms (67%), dysphagia (61%), nausea/vomiting (42%), and facial weakness (32%). Altered mental status (11%) was uncommon. Neural antibodies detected were as follows: KLHL-11 (26 patients), GAD65 (high titer, 12), ANNA-1 (anti-Hu, 8), ANNA-2 (anti-Ri, 8), Ma2 (7), IgLON-5 (6), AQP4 (6), MOG (4), glycine receptor (4), GQ1B (4), PCA-1 (anti-Yo, 4), DPPX (2), neurochondrin (2), neurofilament (2), NMDA-R (2), AGNA-1 (SOX-1, 1), ANNA-3 (DACH1, 1), amphiphysin (1), CRMP-5 (1), ITPR-1 (1), PCA-Tr (DNER, 1), and PDE10A (1). Cancer was identified in 55 patients: germ cell (23 patients; 3 extra-testicular), ductal breast adenocarcinoma (8), small cell carcinoma (6, lung 4), adenocarcinomas (6), neuroendocrine carcinoma (3), hematologic (2), squamous cell (2), and other (7). Median modified Ranking score (mRS) at last follow-up was 3 (range, 0–6). Factors associated with poor outcome included abnormal brain MRI, bulbar symptoms, and elevated CSF IgG index. Kaplan–Meier analysis revealed faster progression to wheelchair in patients who were immunotherapy refractory and with elevated CSF IgG index. Diagnostic criteria for autoimmune brainstem encephalitis (definite and probable) are proposed.
Interpretation
Autoimmune brainstem encephalitis is a distinct clinical subphenotype of autoimmune encephalitis. Abnormal brain MRI, bulbar symptoms, and elevated CSF-IgG index associate with poor outcome.
期刊介绍：
Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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