title: Clinical presentation of early-onset Alzheimer's disease as a result of mutation in exon 12 of the PSEN-1 gene.
abstract: BACKGROUND
  Mutations in the gene for presenilin 1 (PSEN-1) cause familial, early-onset Alzheimer's disease (EOAD). Diagnosis of EOAD is often a challenge because of the high frequency of atypical presentations. Clinical manifestation of EOAD may vary depending on underlying mutation; specific genetic mutations influence development of specific clinical phenotypes; however, intrafamilial phenotypic heterogeneity has also been noted in some pedigrees.
  
  
  METHODS
  We report a case of a 36-year-old woman presenting with progressive behavioral disturbances, dementia, involuntary movements, pyramidal signs, epilepsy, and a family history of early-onset dementia accompanied by involuntary movements. On genetic testing, the mutation at codon 424 (Leu→Arg) in PSEN-1 gene was identified.
  
  
  CONCLUSIONS
  Our case describes a new phenotype of a known mutation of PSEN-1 at codon 424.
authors.affiliation: Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland aleksandra.klimkowicz@mp.pl.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Klimkowicz-Mrowiec
authors.affiliation: Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Bodzioch
authors.affiliation: Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Szczudlik
authors.affiliation: Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Slowik
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D020820:Dyskinesias / Q000209:etiology; D004827:Epilepsy / Q000209:etiology; D005091:Exons; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000209:etiology; D009154:Mutation; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1
keywords: Alzheimer’s disease; PS1; PSEN-1 gene mutation; mutation; phenotype; phenotype of codon 424 (Leu→Arg)