Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
BACKGROUND
Early-onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.


OBJECTIVE
The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.


METHODS
This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre-clinical prodrome and clinical course of a patient with EOFAD.


RESULTS
A previously undescribed G206V mutation in PS1 was found in the proband.


CONCLUSIONS
The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features.
Goldman
Jill S
JS
UCSF Memory and Aging Center, San Francisco, CA 94143, USA. jgoldman@memory.ucsf.edu
Reed
Bruce
B
Gearhart
Rosalie
R
Kramer
Joel H
JH
Miller
Bruce L
BL
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1