title: Molecular mapping of Alzheimer-type dementia in Down's syndrome.
abstract: Previous research has hypothesized an association between Alzheimer's disease and the amyloid precursor protein (APP) gene found on chromosome 21. We report the case of a 78-year-old woman with Down's syndrome with partial trisomy 21 [46,XX,rec(21)dup q, inv(21) (p12q22.1)]. No evidence of Alzheimer's disease was found on neuropsychological, magnetic resonance imaging, and neuropathological assessment. The gene sequence for APP was present in only two copies. This case further supports the hypothesis that Alzheimer's disease is associated with trisomy for proximal chromosome 21q, including the APP gene.
authors.affiliation: Department of Psychiatry, University of Birmingham, United Kingdom.
authors.forename: V P
authors.initials: VP
authors.lastname: Prasher
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: A M
authors.initials: AM
authors.lastname: Kessling
authors.forename: E M
authors.initials: EM
authors.lastname: Fisher
authors.forename: R J
authors.initials: RJ
authors.lastname: West
authors.forename: P C
authors.initials: PC
authors.lastname: Barber
authors.forename: A C
authors.initials: AC
authors.lastname: Butler
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001921:Brain / Q000473:pathology; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D018628:Gene Dosage; D006801:Humans
chemical_list: D016564:Amyloid beta-Protein Precursor