Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

BACKGROUND: Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. CASE REPORT: A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clin...

Descripción completa

Detalles Bibliográficos
Autores principales: An, Seong Soo A., Bagyinszky, Eva, Kim, Hye Ryoun, Seok, Ju-Won, Shin, Hae-Won, Bae, SeunOh, Kim, SangYun, Youn, Young Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875656/
https://www.ncbi.nlm.nih.gov/pubmed/27206484
http://dx.doi.org/10.1186/s12883-016-0591-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875656/
https://www.ncbi.nlm.nih.gov/pubmed/27206484
http://dx.doi.org/10.1186/s12883-016-0591-6

Ejemplares similares