Article
Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.
Brain : a journal of neurology - 1 May 2000
Janssen J C, Hall M, Fox N C, Harvey R J, Beck J, Dickinson A, Campbell T, Collinge J, Lantos P L, Cipolotti L, Stevens J M, Rossor M N
Abstract excerpt
We describe 21 affected individuals from a kindred with early-onset autosomal dominant familial Alzheimer's disease caused by an intronic presenilin-1 mutation (in intron 4). Mean age at onset of symptoms was 37.4 years [95% confidence interval (CI): 36.6-38.2 years], mean age at death was 44.7 years (95% CI: 43.1-46.3 years) and mean duration of illness was 7.3 years (95% CI: 5.9-8.7 years). Myoclonus and...
Topics
- Adult
- Age of Onset
- Alzheimer Disease
- Apolipoproteins E
- Brain
- Confidence Intervals
- Female
- Humans
- Introns
- Magnetic Resonance Imaging
- Male
- Membrane Proteins
- Middle Aged
- Mutation