Objective: To determine if changes in levels of amyloid precursor prot
ein (APP) isoforms in periphery are associated with Alzheimer disease
and Down syndrome. Design: After subjects were grouped according to di
agnosis, APP isoform levels in platelets were compared. Setting: Unive
rsity medical center. Subjects: Ten patients who fulfilled diagnostic
criteria for probable Alzheimer disease, 22 healthy volunteers, and 7
elderly (mean age, 42.7 years) and 7 young (mean age, 19.0 years) pati
ents with Down syndrome. Main Outcome Measures: The levels of APP isof
orms were evaluated by means of Western blot analysis and immunostaini
ng of whole platelets. Results: The ratio between the 130- and the 106
- to 110-kd APP isoforms was markedly lower in patients with Alzheimer
disease and in elderly patients with Down syndrome than in control su
bjects. In young patients with Down syndrome, the ratio did not signif
icantly differ from that in control subjects. Conclusions: A consisten
t alteration in platelet APP isoforms has been found in Alzheimer dise
ase and Down syndrome. Further studies will determine whether this alt
eration could provide a peripheral biochemical marker of the disorder
and whether it could intervene in the pathogenesis of Alzheimer diseas
e.