A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.
Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. Most patients diagnosed with posterior cortical atrophy will finally develop a typical Alzhei...
Guardado en:
Autores principales: | Emilia J Sitek, Ewa Narożańska, Beata Pepłońska, Sławomir Filipek, Anna Barczak, Maria Styczyńska, Krzysztof Mlynarczyk, Bogna Brockhuis, Erik Portelius, Dorota Religa, Maria Barcikowska, Jarosław Sławek, Cezary Żekanowski |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2013
|
Materias: | |
Acceso en línea: | https://doaj.org/article/97b85122553d461a86a5788abdf22207 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?
por: Katarzyna Gaweda-Walerych, et al.
Publicado: (2021) -
A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function.
por: Abhinaya Iyer, et al.
Publicado: (2013) -
Presenilin/γ-secretase regulates neurexin processing at synapses.
por: Carlos A Saura, et al.
Publicado: (2011) -
Presenilin 2 overexpression is associated with apoptosis in Neuro2a cells
por: Kumar Ashish, et al.
Publicado: (2016) -
Presenilin-mediated cleavage of APP regulates synaptotagmin-7 and presynaptic plasticity
por: Gaël Barthet, et al.
Publicado: (2018)