Neuronal aneuploidy in health and disease: a cytomic approach to understand the molecular individuality of neurons

Int J Mol Sci. 2009 Apr 15;10(4):1609-27. doi: 10.3390/ijms10041609.


Structural variation in the human genome is likely to be an important mechanism for neuronal diversity and brain disease. A combination of multiple different forms of aneuploid cells due to loss or gain of whole chromosomes giving rise to cellular diversity at the genomic level have been described in neurons of the normal and diseased adult human brain. Here, we describe recent advances in molecular neuropathology based on the combination of slide-based cytometry with molecular biological techniques that will contribute to the understanding of genetic neuronal heterogeneity in the CNS and its potential impact on Alzheimer's disease and age-related disorders.

Keywords: Alzheimer's disease; alu-repeats; cell cycle; cell death; chromosomal mosaicism; in situ hybridisation; laser capture microdissection; neurodegeneration; slide-based cytometry.

Publication types

  • Review

MeSH terms

  • Alzheimer Disease / pathology
  • Aneuploidy
  • Brain Diseases / pathology
  • Chromosomes / genetics
  • Chromosomes / metabolism
  • DNA / metabolism
  • Humans
  • Mosaicism
  • Neurons / pathology*


  • DNA