A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family

Mutations in the PSEN1 gene are the most common cause of autosomal dominant Alzheimer’s disease, and are characterized by a high phenotype variability. This study describes a five-generation family, with a prevalent late-onset of the disease and a high frequency of depression, in which a new missens...

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Detalles Bibliográficos
Autores principales: Tortelli, Rosanna, Seripa, Davide, Zecca, Chiara, Dell’Abate, Maria Teresa, Bisceglia, Paola, Barulli, Maria Rosaria, De Blasi, Roberto, Logroscino, Giancarlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230263/
https://www.ncbi.nlm.nih.gov/pubmed/34207526
http://dx.doi.org/10.3390/ijms22126215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230263/
https://www.ncbi.nlm.nih.gov/pubmed/34207526
http://dx.doi.org/10.3390/ijms22126215

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