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- W2010421361 abstract "Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer's disease (AD).We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation.All AD subjects showed a cognitive profile characterized by early impairment in long-term memory, shifting abilities and affective symptoms beginning in the fifth decade of life." @default.
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- W2010421361 date "2010-01-01" @default.
- W2010421361 modified "2023-10-17" @default.
- W2010421361 title "The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer’s Disease" @default.
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- W2010421361 doi "https://doi.org/10.1159/000313541" @default.
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