Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.,European Journal of Neurology

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Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.
European Journal of Neurology ( IF 5.1 ) Pub Date : 2020-09-07 , DOI: 10.1111/ene.14506
M Scarioni _{1,

2,

3,

4} , A Arighi _{1,

2} , C Fenoglio _{1,

2} , F Sorrentino _{1,

2} , M Serpente _{1,

2} , E Rotondo _{1,

2} , M Mercurio _{1,

2} , G Marotta ₁ , A A Dijkstra ₃ , Y A L Pijnenburg ₄ , E Scarpini _{1,

2} , D Galimberti _{1,

2}

Affiliation

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.

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