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Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
Journal of the Korean Neurological Association ; : 384-387, 2019.
Article in Korean | WPRIM | ID: wpr-766819
ABSTRACT
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prions / Cerebellar Ataxia / Gerstmann-Straussler-Scheinker Disease / Creutzfeldt-Jakob Syndrome / Prion Diseases / Dementia Limits: Humans Language: Korean Journal: Journal of the Korean Neurological Association Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prions / Cerebellar Ataxia / Gerstmann-Straussler-Scheinker Disease / Creutzfeldt-Jakob Syndrome / Prion Diseases / Dementia Limits: Humans Language: Korean Journal: Journal of the Korean Neurological Association Year: 2019 Type: Article