• Journal of the Korean Society of Radiology
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• v.84 no.3
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• pp.745-749
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• 2023

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.