Article
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
Neurobiology of aging - 1 Oct 2014
Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Lunnon Katie, Al-Sarraj Safa, Brown Kristelle S, Medway Chirstopher, Lord Jenny, Turton James, Mann David, Snowden Julie, Neary David, Harris Jeniffer, Bras Jose, Morgan Kevin, Powell John F, Singleton Andrew, Hardy John
Abstract excerpt
Early-onset Alzheimer's disease (EOAD) represents 1%-2% of the Alzheimer's disease (AD) cases, and it is generally characterized by a positive family history and a rapidly progressive symptomatology. Rare coding and fully penetrant variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the only causative mutations reported for autosomal dominant AD. Thus, in this study we...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Cohort Studies
- Diagnosis, Differential
- Exome
- Female