1.Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
Sun Hye JUNG ; Song Hwa CHAE ; Jin HWANGBO ; Hyun Sung KIM ; Yun Jung LEE ; Yong Sun KIM ; Na Yeon JUNG
Journal of the Korean Neurological Association 2019;37(4):384-387
Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic prion disease, which is characterized by slowly progressive cerebellar ataxia and the occurrence of cognitive decline in the later stage. P102L is the most common mutation in GSS. We report a patient with a P102L mutation that initially manifested as rapidly progressive dementia without cerebellar symptoms.
Cerebellar Ataxia
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Creutzfeldt-Jakob Syndrome
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Dementia
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Gerstmann-Straussler-Scheinker Disease
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Humans
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Prion Diseases
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Prions
2.A Case of Gerstmann-Straussler-Scheinker Disease.
Min Jeong PARK ; Hee Young JO ; Sang Myung CHEON ; Sun Seob CHOI ; Yong Sun KIM ; Jae Woo KIM
Journal of Clinical Neurology 2010;6(1):46-50
BACKGROUND: Gerstmann-Straussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT: A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102. CONCLUSIONS: This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
Cerebral Cortex
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Codon
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Dementia
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Dysarthria
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Female
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Gait
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Gerstmann-Straussler-Scheinker Disease
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Humans
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Korea
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Middle Aged
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Prion Diseases