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KMID : 0359720190370040384
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Journal of the Korean Neurological Association
2019 Volume.37 No. 4 p.384 ~ p.387
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Gerstmann-Straussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
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Jung Sun-Hye
Chae Song-Hwa
Hwangbo Jin
Kim Hyun-Sung
Lee Yun-Jung
Kim Yong-Sun
Jung Na-Yeon
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Abstract
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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-Straussler-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.
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KEYWORD
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Creutzfeldt-Jakob syndrome, Gerstmann-Straussler-Scheinker disease, Prions
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