Psychiatric presentation of Gerstmann–Sträussler–Scheinker disease with 9-OPRI mutation in PRNP gene: a case report

The patient presented with atypical and intermittent speech disturbances, tremors, and bradykinesia, which were initially misdiagnosed as conversion disorder. A positive family history prompted PRNP genetic testing, leading to the definitive diagnosis of Gerstmann-Sträussler-Scheinker syndrome. The management of cases in patients with incurable prion diseases poses distinct challenges, including unpredictable clinical progression and highly individualized symptom trajectories. A multidisciplinary approach is essential to address psychiatric manifestations, navigate legal and ethical considerations, and ensure comprehensive professional care. The development of adaptable care models that respond to the complex needs of these rare conditions remains a critical priority.