Abstract

Background: Creutzfeldt-Jakob Disease (CJD) is a rare and fatal human neurodegenerative disorder, with sporadic CJD (sCJD) being the most common form. sCJD is characterized by rapidly progressive dementia, myoclonus, visual disturbances, cerebellar ataxia, pyramidal or extrapyramidal dysfunction, and akinetic mutism. The precise pathophysiology of sCJD remains incompletely understood, and there are currently no effective treatments or therapeutic strategies to halt disease progression.
Methods: In this case, we present a 63-year-old patient exhibiting rapidly progressive cognitive decline, visual disturbances, myoclonus, hypertonia, and ataxia. The diagnosis of sCJD was confirmed based on brain magnetic resonance imaging (MRI) findings and cerebrospinal fluid analysis.
Results: Serum analysis identified the presence of glycine receptor α1 (GlyRα1) immunoglobulin G (IgG) antibodies.
Conclusions: The clinical manifestations were consistent with typical symptoms of sCJD, raising the hypothesis that GlyRα1 autoantibodies contribute to the pathogenesis of sCJD.

DOI: 10.7754/Clin.Lab.2025.250810