title: A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
abstract: Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated with mutations of the presenilin 1 gene (PSEN1). We report a pedigree of FAD-SP due to a novel missense mutation of PSEN1 (Y154N). The symptoms of the proband were characterized by presenile dementia in her 40s, preceded by spastic paraparesis in her 30s, whereas the mother of the proband presented with spastic paraparesis in her 40s, followed by symptoms of dementia in her mid 60s. The mutation was found only in the proband, and not in a normal family member, normal Japanese control subjects, patients with sporadic Alzheimer's disease or patients with familial spastic paraparesis without dementia. Thus, Y154N is a novel PSEN1 mutation responsible for FAD-SP of Japanese origin.
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishimachi, Yonago-shi 689-8504, Japan.
authors.forename: Sayoko
authors.initials: S
authors.lastname: Hattori
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakuma
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Wakutani
authors.forename: Kenji
authors.initials: K
authors.lastname: Wada
authors.forename: Masaru
authors.initials: M
authors.lastname: Shimoda
authors.forename: Katsuya
authors.initials: K
authors.lastname: Urakami
authors.forename: Hisanori
authors.initials: H
authors.lastname: Kowa
authors.forename: Kenji
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D000544:Alzheimer Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001216:Asparagine / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020336:Paraparesis, Spastic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D053764:Presenilin-1; D014443:Tyrosine / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D014443:Tyrosine; D001216:Asparagine