title: Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease.
abstract: BACKGROUND
  Both familial and sporadic Alzheimer's disease (AD) result in progressive cortical and subcortical atrophy. Familial autosomal dominant AD (FAD) allows us to study AD brain changes presymptomatically.
  
  
  METHODS
  33 subjects at risk for FAD (25 for PSEN1 and 8 for APP mutations; 22 mutation carriers and 11 controls) and 3 demented PSEN1 mutation carriers underwent T(1)-weighted MPRAGE 1.5T MRI. Using the hippocampal radial distance and cortical pattern matching techniques, we investigated the effects of carrier status and dementia diagnosis on cortical and hippocampal atrophy. All analyses were corrected for age and relative age (years to median age of disease onset in the family).
  
  
  RESULTS
  The dementia cases had pronounced cortical atrophy in the lateral and medial parietal, posterior cingulate and frontal cortices and hippocampal atrophy bilaterally relative to both nondemented carriers and controls. Nondemented carriers did not show significant cortical thinning or hippocampal atrophy relative to controls.
  
  
  CONCLUSIONS
  FAD is associated with thinning of the posterior association and frontal cortices and hippocampal atrophy. Larger sample sizes may be necessary to reliably identify cortical atrophy in presymptomatic carriers.
authors.affiliation: Mary S. Easton Center for Alzheimer's Disease Research, Department of Neurology, UCLA School of Medicine, Los Angeles, Calif., USA.
authors.forename: Liana G
authors.initials: LG
authors.lastname: Apostolova
authors.forename: Kristy S
authors.initials: KS
authors.lastname: Hwang
authors.forename: Luis D
authors.initials: LD
authors.lastname: Medina
authors.forename: Amity E
authors.initials: AE
authors.lastname: Green
authors.forename: Meredith N
authors.initials: MN
authors.lastname: Braskie
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Dutton
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Lai
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Geschwind
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Cummings
authors.forename: Paul M
authors.initials: PM
authors.lastname: Thompson
authors.forename: John M
authors.initials: JM
authors.lastname: Ringman
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology*; D001284:Atrophy; D016022:Case-Control Studies; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012016:Reference Values