Article
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.
Neuroreport - 8 Jul 1996
Campion D, Brice A, Dumanchin C, Puel M, Baulac M, De La Sayette V, Hannequin D, Duyckaerts C, Michon A, Martin C, Moreau V, Penet C, Martinez M, Clerget-Darpoux F, Agid Y, Frebourg T
Abstract excerpt
We have identified a novel Alzheimer's disease family in which affected subjects had a very young age of onset (range 29-35 years). Neuropathological confirmation of the diagnosis was obtained for one patient. Molecular analysis shows that within this family the disease results from a missense mu...
Topics
- Adult
- Age of Onset
- Alzheimer Disease
- Humans
- Membrane Proteins
- Mutation
- Presenilin-1