Objective: We describe a unique case of a patient with a constellation of movement and autonomic abnormalities. Serum paraneoplastic/autoimmune testing was positive for 3 separate antibodies: anti-alpha3 acetylcholine receptor, anti-recoverin, and borderline positive anti-CASPR2. Malignancy workup was negative, and patient experienced significant improvements with IVIG.

Background: Autoimmune and paraneoplastic antibodies contribute to a plethora of neurologic and movement disorder manifestations. Antibodies may occur in the presence or absence of malignancy and typically respond to immune-modulating treatment. Combinations of co-existent autoimmune antibodies have been described, but never in this combination to our knowledge.

Method: A 72 year-old male with a history of familial essential tremor (ET) presented to the clinic with reports of orthostatic hypotension, REM-behavior disorder, balance issues with falls, blurry vision, clumsiness, and intermittent fevers. Examination was notable for choreiform movements of the mouth and tongue, ataxic gait, ataxia on finger-to-nose, and known ET. Cognition was normal.

Results: Extensive workup with CT chest/abdomen/pelvis, PET scan, colonoscopy, and cystoscopy, was negative. MRI brain and lab workup for chorea and ataxia was unremarkable. Prostate biopsy demonstrated potential pre-cancerous cells. Autonomic function testing revealed orthostatic hypotension, dysfunction of adrenergic sympathetic cardiovascular function, and cholinergic parasympathetic cardiovagal function. Serum paraneoplastic panel was positive for anti-alpha3 acetylcholine receptor antibodies, anti-recoverin antibodies, and borderline positive anti-CASPR2 antibodies. Monthly IVIG infusions were initiated with marked improvement in symptoms, including mild improvement in ET.

Conclusion: This is a unique case of a cognitively-normal male with an overlap of neurological symptoms related to the presence of 3 autoimmune antibodies without clear evidence of malignancy. Anti-alpha3 acetylcholine receptor antibodies account for orthostatic hypotension and autonomic dysfunction, anti-CASPR2 antibodies account for orofacial choreiform movements, and anti-recoverin antibodies likely account for ataxia. This case highlights the importance of autoimmune/paraneoplastic investigation in the setting of multiple neurologic symptoms, as treatment can result in significant symptom improvement.

References: Tian Y, Han L, Lenahan C, Wang T, Tian T, Liu R, Liu L, Huang J, Wang L, Hu X. Coexistence of anti-NMDAR and anti-IgLON5 antibodies in an autoimmune encephalitis patient: The first case report. Heliyon. 2024 Feb 28;10(5):e26659. doi: 10.1016/j.heliyon.2024.e26659. PMID: 38449620; PMCID: PMC10915512.

Asbeutah S, Alhashime K, Alhamer M. A Case Report and Literature Review on Positivity for Multiple Antibodies: Autoimmune Encephalitis in Focus. Cureus. 2023 Dec 12;15(12):e50393. doi: 10.7759/cureus.50393. PMID: 38213350; PMCID: PMC10783615.

Teekaput C, Teekaput K, Tanprawate S, Kittisares A, Apiwattanakul M. Coexistence of IgLON5-IgG and SOX1-IgG in a Patient with Progressive Brainstem Dysfunction. Acta Neurol Taiwan. 2023 Sep 30;32(3):131-135. PMID: 37674426.

Zhang R, Wang L, Tao Y, Zhang X, Liu K, Song B, Xu Y. The case report of MOG and NMDAR IgG double positive encephalitis treated with subcutaneous ofatumumab. Front Immunol. 2023 Aug 15;14:1183488. doi: 10.3389/fimmu.2023.1183488. PMID: 37649484; PMCID: PMC10463181.

Schäfer J, Christensen PB, Jensen K. AMPA and NMDA receptor antibody autoimmune encephalitis preceded by ocular myasthenia gravis: a case report. BMC Neurol. 2023 Mar 10;23(1):102. doi: 10.1186/s12883-023-03129-2. PMID: 36899302; PMCID: PMC9999510.

Nakane S. [Autoimmune Autonomic Ganglionopathy: Solving the 10 Assignments]. Brain Nerve. 2023 Jul;75(7):821-829. Japanese. doi: 10.11477/mf.1416202427. PMID: 37431072.

Heusser K, Erger F, Ebner U, Namer B, Eisenhofer G, Haensch CA, Weis H, Schmidt M, Drzezga A, Tank J, Netzer C, Jordan J. Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency. Hypertension. 2023 Aug;80(8):e137-e139. doi: 10.1161/HYPERTENSIONAHA.123.21172. Epub 2023 May 10. PMID: 37161764.

Herzog R, Brüggemann N, Sprenger A, Münte TF. Recoverin antibody-associated late-onset ataxia without retinopathy. BMJ Case Rep. 2020 Dec 17;13(12):e237479. doi: 10.1136/bcr-2020-237479. PMID: 33334756; PMCID: PMC7747605.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/triple-threat-a-rare-case-of-a-patient-with-3-co-existent-autoimmune-antibodies-causing-autonomic-and-movement-disorder/