Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
Journal of the Korean Neurological Association
;
: 384-387, 2019.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Príons
/
Ataxia Cerebelar
/
Doença de Gerstmann-Straussler-Scheinker
/
Síndrome de Creutzfeldt-Jakob
/
Doenças Priônicas
/
Demência
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2019
Tipo de documento:
Artigo
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