title: Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
abstract: BACKGROUND
  Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S).
  
  
  METHODS
  Clinical information on the pedigree was collected directly from family members including affected members and their carers and also from hospital records.
  
  
  RESULTS
  Detailed clinical information was available on five members. All had an early age at onset with a median age of 52 (95% confidence interval (95% CI) 49.4-54.9). Age at onset varied between 49 and 56 years, with duration of illness varying between six years and 15 years. Myoclonus, depression, and psychosis were features of this pedigree; seizures were not reported.
  
  
  CONCLUSIONS
  PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent.
authors.affiliation: Dementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary's, London, UK.
authors.forename: R J
authors.initials: RJ
authors.lastname: Harvey
authors.forename: D
authors.initials: D
authors.lastname: Ellison
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: M
authors.initials: M
authors.lastname: Hutton
authors.forename: P K
authors.initials: PK
authors.lastname: Roques
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: N C
authors.initials: NC
authors.lastname: Fox
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D019943:Amino Acid Substitution / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D053764:Presenilin-1; D012189:Retrospective Studies; D012694:Serine / Q000235:genetics*; D011795:Surveys and Questionnaires
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D012694:Serine; D007930:Leucine