Article
Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.
European journal of neurology - 1 Dec 2020
Scarioni M, Arighi A, Fenoglio C, Sorrentino F, Serpente M, Rotondo E, Mercurio M, Marotta G, Dijkstra A A, Pijnenburg Y A L, Scarpini E, Galimberti D
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in the PSEN1 gene are the most common cause of autosomal-dominant Alzheimer's disease and have been associated with the earliest disease onset. We describe an unusual presentation of the rare R377W PSEN1 mutation with a late age of onset, and we provide for the first time in vivo pathological evidence for this mutation. METHODS: A 71-year-old female patient with progressive...
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