Background/Aims: Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer's disease (AD). Methods: 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. Results: 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. Conclusion: 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. Copyright (C) 2010 S. Karger AG, Basel
The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer's Disease / Talarico, Giuseppina; P., Piscopo; Gasparini, Marina; E., Salati; M., Pignatelli; Pietracupa, Sara; L., Malvezzi Campeggi; A., Crestini; S., Boschi; Lenzi, Gian Luigi; A., Confaloni; Bruno, Giuseppe. - In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. - ISSN 1420-8008. - 29:6(2010), pp. 484-490. [10.1159/000313541]
The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer's Disease
TALARICO, GIUSEPPINA;GASPARINI, Marina;PIETRACUPA, sara;LENZI, Gian Luigi;BRUNO, Giuseppe
2010
Abstract
Background/Aims: Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer's disease (AD). Methods: 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. Results: 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. Conclusion: 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. Copyright (C) 2010 S. Karger AG, BaselI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
