title: A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.
abstract: In a case of familial early onset Alzheimer's disease, a mutation was detected in exon 7 of the presenilin 1 gene at codon 226 with a resultant amino acid change from leucine (CTC) to arginine (CGC) (L226R). This is a novel finding, yet is consistent with the previously reported mutations at codons 222, 229, 233 and 237 in transmembrane domain 5 which show a helical alignment of mutations in this domain. We conclude that the cause of Alzheimer's disease in this patient is an authentic PS1 gene abnormality responsible for the patient's early onset Alzheimer's disease.
authors.affiliation: Department of Neurology, Center for Aging and Developmental Biology, University of Rochester Medical Center, 601 Elmwood Avenue, P.O. Box 645, NY 14642, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Coleman
authors.forename: Roger
authors.initials: R
authors.lastname: Kurlan
authors.forename: Richard
authors.initials: R
authors.lastname: Crook
authors.forename: John
authors.initials: J
authors.lastname: Werner
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1