Category: Parkinsonism, Others
Objective: Report a case of a PSP-like syndrome associated with dysautonomic findings as a presentation of an anti-IgLON5 antibody-related encephalopathy.
Background: Antibodies against immunoglobulin-like cell adhesion molecule 5 (IgLON5) encephalopathy is a progressive disease caused by inflammation and neurodegeneration. Sleep disturbances, bulbar dysfunction, progressive supranuclear palsy (PSP)-like syndrome, cognitive impairment, and movement disorders (chorea, dystonia) are the most frequent presentations. Previous studies suggest that dysautonomia could be present in 40%. Nevertheless, a heterogeneous and atypical course could delay the correct diagnosis.
Method: Analysis of a clinical history of a patient with IgLON5 antibody-related encephalopathy evaluated in our neurology department.
Results: A 65-year-old man presented a left arm tremor and gait difficulty in 2020. In the following two years, left eyelid ptosis, severe sleep problems, cognitive impairment, and mood disorders developed, and was introduced to our Neurology Department in October 2022 previously diagnosed as Parkinson’s disease. Apart from the cognitive decline (MOCA:15/30), the neurological examination revealed an akinetic rigid syndrome associated with tremors in the upper limbs, vertical and horizontal gaze palsy, left eyelid ptosis, bulbar symptoms, and unilateral facial myorhythmia. Laboratory test was normal and Magnetic Resonance showed cerebellar atrophy. A Compass-31 (Composite Autonomic Symptom Score) scale of 26/30, diminished heart rate variability, and grade 0 on the skin wrinkling test showed autonomic dysfunction. In the cerebrospinal fluid hyperproteinorrachia without pleocytosis stood out and serum antibodies against IgLON5 were found strongly positive, so the diagnosis was confirmed. Immunotherapy was initiated with high-dose intravenous corticosteroids and 160g of intravenous immunoglobulin with partial response (MOCA:22/30). He is about to start intravenous rituximab.
Conclusion: In the presence of PSP-like syndrome with atypical symptoms, the research for specific signs and symptoms of dysautonomia is necessary to rule out other differential diagnoses such as IgLON5. Because many patients do not report autonomic symptoms we think they should always be explored for early diagnosis and treatment.
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To cite this abstract in AMA style:
A. Gomez, MB. Charra Castellani, F. Knorre, D. Ballesteros, V. Kurtz. PSP-Like Syndrome Associated with Dysautonomic Findings as a Presentation of an Anti-Iglon5 Antibody-Related Encephalopathy [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/psp-like-syndrome-associated-with-dysautonomic-findings-as-a-presentation-of-an-anti-iglon5-antibody-related-encephalopathy/. Accessed May 10, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/psp-like-syndrome-associated-with-dysautonomic-findings-as-a-presentation-of-an-anti-iglon5-antibody-related-encephalopathy/