There is increasing evidence for genetic heterogeneity in Alzheimer di
sease. A longitudinal clinical and imaging study had been established
in order to determine whether specific phenotypic profiles are present
in aetiologically distinct familial Alzheimer disease (FAD) pedigrees
. [F-18]fluorodeoxyglucose positron emission tomography has been used
in conjunction with statistical parametric mapping to determine the re
lative distribution of hypometabolism. A parietotemporal deficit has b
een observed in individuals from both amyloid precursor protein mutati
on and chromosome 14 linked FAD families. Preliminary data from asympt
omatic individuals at risk of FAD shows similar, although a less exten
sive pattern of deficit.