Cargando…
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease
Background: A novel prion variant, PRNP p.Tyr225Cys (c.674A>G; p.Y225C), was identified in an atypical Creutzfeldt–Jakob disease (CJD) patient. The patient had a 5-year history of progressive cognitive impairment with speech and gait disturbances. From the basic neurological examination at his fi...
Autores principales: | Bagyinszky, Eva, Yang, YoungSoon, Giau, Vo Van, Youn, Young Chul, An, Seong Soo A, Kim, SangYun |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683949/ https://www.ncbi.nlm.nih.gov/pubmed/31447551 http://dx.doi.org/10.2147/CIA.S210909 |
Ejemplares similares
-
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
por: Bagyinszky, Eva, et al.
Publicado: (2018) -
Neurosyphilis Mimicking Creutzfeldt-Jakob Disease
por: Jang, Jae-Won, et al.
Publicado: (2016) -
Familial Creutzfeldt-Jakob Disease with M232R Mutation Progressed Slowly like Alzheimer's Disease
por: Lee, SulKi, et al.
Publicado: (2017) -
Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease
por: Xiao, Xiangzhu, et al.
Publicado: (2014) -
Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare
por: Nihat, Akin, et al.
Publicado: (2018)