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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Int J Mol Sci
Hlavní autoři: Tortelli, Rosanna, Seripa, Davide, Zecca, Chiara, Dell’Abate, Maria Teresa, Bisceglia, Paola, Barulli, Maria Rosaria, De Blasi, Roberto, Logroscino, Giancarlo
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8230263/
https://ncbi.nlm.nih.gov/pubmed/34207526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22126215
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky