J Korean Soc Radiol.  2023 May;84(3):745-749. 10.3348/jksr.2022.0089.

Gerstmann-SträusslerScheinker Disease: A Case Report

• Shin M
• Kim D
• Heo YJ
• Baek JW
• Yun S
• Jeong HW

• KMID: 2542912
• DOI: http://doi.org/10.3348/jksr.2022.0089

Abstract

Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom. His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested similar symptoms in their 40–50s, suggesting the possibility of a genetic disease. Finally, he was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein (PRNP) gene sequencing test.

Keyword

Prion Disease; Gerstmann-Straussler-Scheinker Syndrome; Prion Protein; Magnetic Resonance Imaging