Several families with an early-onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the beta-amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.

0 (Amyloid beta-Protein Precursor), 0 (Codon), Adult, Alzheimer Disease/genetics, Amyloid beta-Protein Precursor/*genetics, Cerebral Amyloid Angiopathy/genetics, Cerebral Hemorrhage/*genetics, Codon/genetics, DNA Mutational Analysis, Dementia/*genetics, Female, Human, Linkage (Genetics), Male, Middle Aged, Pedigree, Point Mutation, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S.
hdl.handle.net/1765/5803
Nature Genetics
Erasmus MC: University Medical Center Rotterdam

Hendriks, L, van Duijn, C.M, Cras, P, Cruts, M, Van Hul, W, van Harskamp, F, … Hofman, A. (1992). Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nature Genetics, 1, 218–221. Retrieved from http://hdl.handle.net/1765/5803