Behavior Genetics

, Volume 36, Issue 3, pp 405–415 | Cite as

Neuroanatomy of Down Syndrome in vivo: A Model of Preclinical Alzheimer’s Disease


Aging in Down syndrome (DS) is accompanied by neuropathological features of Alzheimer’s disease (AD). Therefore, DS has been proposed as a model to study predementia stages of AD. MRI-based measurement of grey matter atrophy is an in vivo surrogate marker of regional neuronal density. A range of neuroimaging studies have described the macroscopic neuroanatomy of DS. Recent studies using sensitive quantitative measures of region-specific atrophy based on high-resolution MRI suggest that age-related atrophy in DS resembles the pattern of brain atrophy in early stages of AD. The pattern of atrophy determined in predementia DS supports the notion that AD-type pathology leads to neuronal degeneration not only in allocortical, but also in neocortical brain areas before onset of clinical dementia. This has major implications for our understanding of the onset and progression of AD-type pathology both in DS and in sporadic AD.

Key words

 Alzheimer's disease  atrophy  cerebral cortex  down syndrome  morphometry  MRI 



We thank Dr. Michael Ewers (LMU Munich) for critical reading of the manuscript. Part of this work was supported by grants of the Medical Faculty of the Ludwig–Maximilian University (Munich, Germany) to S.J.T., of the Hirnliga e. V. (Nürmbrecht, Germany) to S.J.T. and H.H., and by the German Competency Network on Dementias (Kompetenznetz Demenzen) funded by the Bundesministerium für Bildung und Forschung (BMBF), Germany.


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© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  1. 1.Alzheimer Memorial Center and Geriatric Psychiatry Branch, Dementia and Neuroimaging Section, Department of PsychiatryLudwig–Maximilian UniversityMunichGermany
  2. 2.Alzheimer Memorial Center and Geriatric Psychiatry Branch, Dementia and Neuroimaging Section, Department of PsychiatryLudwig–Maximilian UniversityMunichGermany

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