The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer’s Disease

• Published in: Dementia and geriatric cognitive disorders 2010-07, Vol.29 (6), p.484-490
• Main Authors: Talarico, G., Piscopo, P., Gasparini, M., Salati, E., Pignatelli, M., Pietracupa, S., Malvezzi-Campeggi, L., Crestini, A., Boschi, S., Lenzi, G.L., Confaloni, A., Bruno, G.
• Format: Article
• Language: English
• Subjects: Aged; Alzheimer Disease - complications; Alzheimer Disease - genetics; Alzheimer Disease - pathology; Amyloid beta-Protein Precursor - genetics; Attention - physiology; Biological and medical sciences; Chromosomes, Human, Pair 21 - genetics; Cognition Disorders - diagnosis; Cognition Disorders - etiology; Cognition Disorders - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Early Diagnosis; Executive Function - physiology; Female; Humans; Male; Medical sciences; Middle Aged; Mutation, Missense; Neurology; Original Research Article; Pedigree; Vascular diseases and vascular malformations of the nervous system
• ISSN: 1420-8008; 1421-9824
• DOI: 10.1159/000313541

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.