The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer's Disease
| Autor: | Annamaria Confaloni, Emanuela Salati, S. Boschi, Giuseppina Talarico, Gian Luigi Lenzi, Paola Piscopo, Lorenzo Malvezzi-Campeggi, S. Pietracupa, Marco Pignatelli, Marina Gasparini, Alessio Crestini, Giuseppe Bruno |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Male
Chromosomes Human Pair 21 Cognitive Neuroscience Mutation Missense Disease alzheimer's disease behavior val717ile early-onset alzheimer's disease Amyloid beta-Protein Precursor Executive Function Alzheimer Disease Amyloid precursor protein medicine Missense mutation Humans Early-onset Alzheimer's disease Attention Sibling Aged Genetics biology Middle Aged medicine.disease Pedigree Psychiatry and Mental health Early Diagnosis Mutation (genetic algorithm) biology.protein Female Geriatrics and Gerontology Alzheimer's disease Psychology Cognition Disorders Neuroscience Executive dysfunction |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|