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.
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 .
Which disease the London mutation involved in?
Which disease the London mutation involved in ?
Alzheimer's Disease AD
Alzheimer's Disease AD