Analysis of Granzyme B levels in cerebrospinal fluid of 38 patients with Rasmussen syndrome

Abstract

  Objective: This study aimed to elucidate the clinical significance of Granzyme B (GrB) levelin cerebrospinal fluid (CSF) of patients with Rasmussen syndrome (RS). Methods: Patients with a diagnosis of RS based on Bien’s criteria and onset age younger than 50 years, who had measured CSF GrB levels were recruited. We examined the relationship of GrB with age at examination, SNPs of immunomodulatory genes [cytotoxic T lymphocyte-associated protein 4 (CTLA4) and programmed cell-death 1 (PDCD1)], clinical stage, seizure outcome and motor outcome. GrB levels of 38 patients with epilepsy presumably not associated with immunological etiology were used as disease controls. Results: Thirty-eight RS patients (73 specimens) comprising 15 males and 23 females were analyzed. CSF GrB levels in RS patients in the clinical stages 1-2 (less than 2 years from onset) were significantly higher than those of disease controls. Motor outcome was better in patients (3/6) with declining GrB level in the course of disease. No significant association was observed between GrB level and immunomodulatory therapy or SNPs of CTLA4 and PDCD1. Conclusions: CSF GrB level tends to be high in the early stage of RS (less than 2 years from onset), and is useful as a diagnostic marker.