Article
The novel I213S mutation in PSEN1 gene is located in a hotspot codon associated with familial early-onset Alzheimer's disease.
Neurobiology of aging - 1 Apr 2022
Catania Marcella, Marti Alessandro, Rossi Giacomina, Fioretti Anna, Boiocchi Chiara, Ricci Martina, Gasparini Federico, Beltrami Daniela, Crepaldi Valeria, Redaelli Veronica, Giaccone Giorgio, Di Fede Giuseppe
Abstract excerpt
Mutations in presenilin 1 gene (PSEN1) are the most common causes of autosomal dominant early-onset Alzheimer's disease (EOAD). We report a novel PSEN1 mutation (I213S) that was discovered in an Italian patient with a family history of early-onset dementia, who developed a slowly progressive cognitive decline since the age of 40 years. Clinical investigations, including neuropsychological assessment, brain MRI...
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