Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
- Author:
Sun Hye JUNG
1
;
Song Hwa CHAE
;
Jin HWANGBO
;
Hyun Sung KIM
;
Yun Jung LEE
;
Yong Sun KIM
;
Na Yeon JUNG
Author Information
- Publication Type:Case Report
- Keywords: Creutzfeldt-Jakob syndrome; Gerstmann-Straussler-Scheinker disease; Prions
- MeSH: Cerebellar Ataxia; Creutzfeldt-Jakob Syndrome; Dementia; Gerstmann-Straussler-Scheinker Disease; Humans; Prion Diseases; Prions
- From:Journal of the Korean Neurological Association 2019;37(4):384-387
- CountryRepublic of Korea
- Language:Korean
- 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.
