A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

Presenilin-1 (PSEN1) mutations cause familial Alzheimer’s disease (FAD) characterized by early age of onset (AoO). Examination of a large kindred harboring the PSEN1-E280A mutation reveals a range of AoO spanning 30 years. The pathophysiological drivers and clinical impact of AoO variation in this p...

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Detalles Bibliográficos
Autores principales: Sepulveda-Falla, Diego, Chavez-Gutierrez, Lucia, Portelius, Erik, Vélez, Jorge I., Dujardin, Simon, Barrera-Ocampo, Alvaro, Dinkel, Felix, Hagel, Christian, Puig, Berta, Mastronardi, Claudio, Lopera, Francisco, Hyman, Bradley T., Blennow, Kaj, Arcos-Burgos, Mauricio, de Strooper, Bart, Glatzel, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847436/
https://www.ncbi.nlm.nih.gov/pubmed/33319314
http://dx.doi.org/10.1007/s00401-020-02249-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847436/
https://www.ncbi.nlm.nih.gov/pubmed/33319314
http://dx.doi.org/10.1007/s00401-020-02249-0

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