E. Almqvist et al., SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE)IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE, Journal of neural transmission. Parkinson's disease and dementia section, 6(2), 1993, pp. 151-156
Screening for the APP 717 Val --> Ile mutation in the amyloid precurso
r protein (APP) gene in 34 Swedish families with familial Alzheimer's
disease (FAD), 16 sporadic cases of Alzheimer's disease and five patie
nts with Down's syndrome (DS) failed to identify further cases of the
mutation. These results suggests that the mutation is rare among Swedi
sh families with Alzheimer's disease. In addition, we summarize presen
t reports of the frequency of the mutation.