Objective: To describe case of a patient who presented with a history of autoimmune encephalitis with NMDA receptor and GAD 65 antibodies positive in cerebrospinal fluid. Given his atypical presentation and the presence of family members with similar manifestations, genetic analysis were performed in which a variant mutation of LRRK2 was detected.

Background: We present the case of a 51-year-old male, with a history of autoimmune encephalitis (NMDAR and GAD65 positive) with recurrent episodes of psychomotor agitation, hallucinations, and altered consciousness, despite immunomodulatory therapy.

Method: The patient was admitted to the emergency department due to psychomotor agitation, headache, and pain in lower extremities. Clinical evaluation, neurophysiological studies, imaging tests, and neural antibody panels were performed. Treatment with IVIG was initiated, along with multiple pharmacological regimens to control the agitation episodes.

Results: IVIG treatment did not result in significant changes in symptoms, and the patient continued experiencing episodes of agitation and rigidity. Genetic analysis reported a variant in LRRK2 gene which could explain the atypical progression of the patient’s symptoms.

Conclusion: Despite IVIG treatment, the patient did not show significant clinical improvement. A possible underlying genetic component in the disease is suspected, given the presence of similar conditions in family members. This case highlights the complexity of autoimmune neurological disorders and the importance of considering genetic factors in diagnosis and treatment. Close follow-up with further genetic studies and monitoring is recommended.

Figure 1. Atrophy of midbrain

References: Stiff person syndrome. Hadavi, S; et al. Practical Neurology 2011;11:272–282
Stiff Person Syndrome spectrum disorders: more than meets the eye. Newsom, S; Johnson, T. Journal of Neuroimmunology 369 (2022) 577915

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MDS Abstracts - https://www.mdsabstracts.org/abstract/lrrk2-mutation-in-a-patient-with-nmda-and-gad-65-antibodies/