title: Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
abstract: 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.
authors.affiliation: Department of Biochemistry, Born Bunge Foundation, University of Antwerp (UIA), Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Hendriks
authors.forename: C M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: P
authors.initials: P
authors.lastname: Cras
authors.forename: M
authors.initials: M
authors.lastname: Cruts
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
authors.forename: F
authors.initials: F
authors.lastname: van Harskamp
authors.forename: A
authors.initials: A
authors.lastname: Warren
authors.forename: M G
authors.initials: MG
authors.lastname: McInnis
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon