title: Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.
abstract: In a family with early-onset Alzheimer disease (EOAD) from Spain we found a mutation in the presenilin 1 (PS1) gene that predicts a methionine-to-threonine change at the PS1 residue 139 (M139T). This mutation was previously reported in a independent French family. The age of onset of the disease was similar in the affected members from both families, suggesting a specific age of expression (range 47-50 years). The detection of the M139T mutation in an independent EOAD family strongly supports the pathogenicity of this mutation in familial Alzheimer disease (AD).
authors.affiliation: Genetics Service, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Villarroel 170, 08036, Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Queralt
authors.forename: M
authors.initials: M
authors.lastname: Ezquerra
authors.forename: M
authors.initials: M
authors.lastname: Castellví
authors.forename: A
authors.initials: A
authors.lastname: Lleó
authors.forename: R
authors.initials: R
authors.lastname: Blesa
authors.forename: R
authors.initials: R
authors.lastname: Oliva
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D053764:Presenilin-1; D013030:Spain / Q000453:epidemiology
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1