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KMID : 1103720230840030745
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Journal of the Korean Society of Radiology
2023 Volume.84 No. 3 p.745 ~ p.749
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Gerstmann-Straussler-Scheinker Disease: A Case Report
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Shin Min-ji
Kim Dong-hyun
Heo Young-Jin
Baek Jin-Wook
Yun Su-young
Jeong Hae-Woong
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Abstract
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Gerstmann-Straussler-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.
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KEYWORD
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Prion Disease, Gerstmann-Straussler-Scheinker Syndrome, Prion Protein, Magnetic Resonance Imaging
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