An Unusual Case of GRIN2A Mutation Presenting as Progressive Limbic Encephalopathy in an Adult

TL;DR

A rare adult case of GRIN2A mutation caused severe neurological decline and sudden death, highlighting the need for better understanding and treatment.

Contribution

This case report presents an unusual adult-onset manifestation of GRIN2A mutation as progressive limbic encephalopathy.

Findings

GRIN2A mutation in an adult presented with progressive limbic encephalopathy, seizures, aphasia, and sudden death.

The mutation caused rapidly progressive cortical atrophy and neuropsychiatric abnormalities.

The case highlights the need for improved diagnostic and therapeutic strategies for GRIN2A-related disorders.

Abstract

The glutamate ionotropic receptor NMDA (N-methyl-D-aspartate) type subunit 2A gene (GRIN2A) encodes the GluN2A subunit of NMDA receptors, which are essential for synaptic plasticity and memory consolidation. Mutations in GRIN2A can disrupt these processes, often affecting the pediatric population and causing various neurological disorders characterized by epilepsy, intellectual disability, and aphasia, among other neuropsychiatric findings. We report an unusual presentation of adult-onset GRIN2A mutation-associated progressive limbic encephalopathy (LE), characterized by rapidly progressive cortical atrophy, seizures, aphasia, and neuropsychiatric abnormalities, which ultimately led to the patient’s sudden demise. Further research into GRIN2A mutations will improve our understanding of such presentations, guiding enhancements in diagnostic methods and therapeutic approaches.

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