Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease

Liana G. Apostolova, Kristy S. Hwang, Luis D. Medina, Amity E. Green, Meredith N. Braskie, Rebecca A. Dutton, Jeffrey Lai, Daniel H. Geschwind, Jeffrey L. Cummings, Paul M. Thompson, John M. Ringman

Research output: Contribution to journalArticle

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)118-125
Number of pages8
JournalDementia and Geriatric Cognitive Disorders
Issue number2
StatePublished - Oct 1 2011



  • Amyloid precursor protein
  • Cortical atrophy
  • Familial Alzheimer's disease
  • Familial autosomal dominant Alzheimer's disease
  • Hippocampal atrophy
  • Mutation carriers
  • Presenilin

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Cognitive Neuroscience
  • Psychiatry and Mental health

Cite this

Apostolova, L. G., Hwang, K. S., Medina, L. D., Green, A. E., Braskie, M. N., Dutton, R. A., Lai, J., Geschwind, D. H., Cummings, J. L., Thompson, P. M., & Ringman, J. M. (2011). Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease. Dementia and Geriatric Cognitive Disorders, 32(2), 118-125.