Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

@article{Telenius1994SomaticAG,
  title={Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm},
  author={H{\aa}kan Telenius and B Kremer and Yigal Paul Goldberg and Jane Theilmann and Susan E. Andrew and Jutta Zeisler and Shelin Adam and Cheryl R. Greenberg and Elizabeth J. Ives and Lorne A Clarke and Michael R. Hayden},
  journal={Nature Genetics},
  year={1994},
  volume={6},
  pages={409-414}
}
Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat. We have analysed the CAG expansion in different tissues from 12 affected individuals. All tissues examined were found to display some repeat mosaicism, with the greatest levels detected in brain and sperm. Regions within the brain showing most obvious neuropathology, such as the basal ganglia and the cerebral cortex, displayed the greatest mosaicism, whereas the cerebellar cortex, which is seldom involved… 

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