A multi-case study of seizure-related 6 homolog-like 2 autoimmunity

Takeaway

  • Seizure-related 6 homolog-like 2 antibodies (SEZ6L2-abs) are associated with a subacute cerebellar syndrome (SCS) with frequent extrapyramidal symptoms.

Why this matters

  • SEZ6L2 (type I transmembrane protein expressed mainly in hippocampus and cerebellum, linked to motor coordination, inflammatory conditions and cancers) is a binding partner of the AMPA glutamate receptor; in a previous single case study, SEZ6L2-abs identified in the patient inhibited this interaction and impeded the AMPA receptor signaling pathway.

  • In rare movement disorders such as SCS, understanding pathogenesis at the molecular level is vital for identifying underlying mechanisms of clinical manifestations, and to develop therapies that may benefit patients from the cellular level, potentially improving outcomes.

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