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 2010 S. Karger AG, Basel.
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 2010 S. Karger AG, Basel.
Authors: Grace M Lloyd; Jorge A Trejo-Lopez; Yuxing Xia; Karen N McFarland; Sarah J Lincoln; Nilüfer Ertekin-Taner; Benoit I Giasson; Anthony T Yachnis; Stefan Prokop Journal: Acta Neuropathol Commun Date: 2020-03-12 Impact factor: 7.801
Authors: Celeste M Karch; Damián Hernández; Jen-Chyong Wang; Jacob Marsh; Alex W Hewitt; Simon Hsu; Joanne Norton; Denise Levitch; Tamara Donahue; Wendy Sigurdson; Bernardino Ghetti; Martin Farlow; Jasmeer Chhatwal; Sarah Berman; Carlos Cruchaga; John C Morris; Randall J Bateman; Alice Pébay; Alison M Goate Journal: Alzheimers Res Ther Date: 2018-07-25 Impact factor: 6.982