SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE)IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE

Citation
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
Citations number
21
Categorie Soggetti
Clinical Neurology
ISSN journal
09363076
Volume
6
Issue
2
Year of publication
1993
Pages
151 - 156
Database
ISI
SICI code
0936-3076(1993)6:2<151:SOAPPG>2.0.ZU;2-N
Abstract
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.