title: A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.
abstract: This study reports a novel presenilin 1 (PS1) gene mutation in a Japanese family with Alzheimer's disease (AD). Two patients developed progressive memory disorder with disorientation around 50 years of age and showed myoclonus with frequent tonic-clonic seizures several years later. Direct sequencing of the proband's PS1 gene revealed a novel mis-sense mutation (leucine-to-valine at residue 250 (L250V)). This mutation was found in both patients, but not in a normal family member or normal Japanese control subjects. Thus, L250V is a novel PS1 gene mutation responsible for familial AD (FAD) in Japan.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan. furuya@neuro.med.kyushu-u.ac.jp
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Furuya
authors.forename: Minoru
authors.initials: M
authors.lastname: Yasuda
authors.forename: Ken-jiro
authors.initials: KJ
authors.lastname: Terasawa
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Tanaka
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Kira
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Ohyagi
mesh_terms: D000544:Alzheimer Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019943:Amino Acid Substitution; D001057:Apolipoproteins E / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008569:Memory Disorders / Q000209:etiology; D008875:Middle Aged; D009154:Mutation; D009207:Myoclonus / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D053764:Presenilin-1; D012640:Seizures / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1