title: Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
abstract: We analyzed 12 families with autosomal dominant early-onset Alzheimer' s disease (EOAD)for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410 including six novel mutations, were identified in eight families. Cosegregation of the mutations with EOAD was confirmed in three families, one including 36 affected individuals. This study underlines the great allelic heterogeneity and the large distribution of the mutations within the PSNLI coding region. Our results support the notion that PSNLI is the major gene involved in autosomal dominant EOAD.
authors.affiliation: Laboratorie de Génétique Moléculaire, CHU de Rouen, France.
authors.forename: D
authors.initials: D
authors.lastname: Campion
authors.forename: J M
authors.initials: JM
authors.lastname: Flaman
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: D
authors.initials: D
authors.lastname: Hannequin
authors.forename: B
authors.initials: B
authors.lastname: Dubois
authors.forename: C
authors.initials: C
authors.lastname: Martin
authors.forename: V
authors.initials: V
authors.lastname: Moreau
authors.forename: F
authors.initials: F
authors.lastname: Charbonnier
authors.forename: O
authors.initials: O
authors.lastname: Didierjean
authors.forename: S
authors.initials: S
authors.lastname: Tardieu
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002461:Cell Line, Transformed; D004247:DNA; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA