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

Gerstmann-Sträussler-Scheinker syndrome is an extremely rare autosomal-dominant neurodegenerative disease that presents with a broad spectrum of neurological and psychiatric symptoms. Systematic case reports, which document genetic mutations and phenotypic variations, are a significant contribution to improving the diagnosis and approach of these rare diseases.

A 42-year-old White woman with a confirmed diagnosis of Gerstmann-Sträussler-Scheinker syndrome was admitted to the psychiatry department due to severe confusion and episodes of agitation. The patient had been experiencing marked irritability and daytime restlessness, as well as severe insomnia that resulted in nocturnal falls. She exhibited fluctuating stereotypical behavior and disorientation, failing to recognize her husband and child. The aim of the psychiatric intervention was to enhance the patient's quality of life by alleviating acute psychiatric symptoms through pharmacological treatment. Following successful adjustment of medication, the patient was discharged from inpatient treatment after approximately 1 month, demonstrating marked improvement in her clinical condition. However, 3 months later, she was readmitted to the hospital with progression of symptoms, including sleep disturbance, agitation, gait instability, and severe imbalance, which led to recurrent falls. She also developed dysarthria, which substantially impaired her verbal communication. The progressive neurodegenerative course of her illness ultimately necessitated extensive support from her family at home, imposing considerable emotional, physical, and financial strain on the caregivers. A collaborative approach with the neuropalliative care team was initiated to optimize symptom management and to develop individualized models of care.

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.