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Chapter 7 - Neurogenetics

Published online by Cambridge University Press:  12 March 2025

Niruj Agrawal
Affiliation:
St George's Hospital Medical School, University of London
Norman Poole
Affiliation:
South London and the Maudsley NHS Foundation Trust
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Summary

This chapter is divided into two sections. The first explains fundamental concepts in human genetics. Accounts of genetic findings involve concepts which can prove challenging. Terminology may be unfamiliar and some words have specialised meanings and may not always be used consistently. The first part aims to provide an overview of the key concepts. The subject matter is intrinsically dense and can be hard to take in, so the reader may wish to skim parts of this section and then refer back to it when necessary.

The second part shows how these concepts relate to a range of neuropsychiatric conditions. Before considering individual conditions, it is worth presenting some general principles which characterise the relationship between genetic variation and human disease, in particular in relationship to neuropsychiatric conditions. Modern research has impacted on how we think about this relationship, and so current accounts are somewhat different from what one finds in older sources.

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Publisher: Cambridge University Press
Print publication year: 2025

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References

Key References

Mitchell, K. Innate: How the Wiring of Our Brains Shapes Who We Are. Princeton University Press; 2018.Google Scholar
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MacDonald, M, Ambrose, C, Duyao, M, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 1993;72(6):971983. doi: 10.1016/0092-8674(93)90585-E.CrossRefGoogle Scholar
Tabrizi, SJ, Leavitt, BR, Landwehrmeyer, GB, et al. Targeting huntingtin expression in patients with Huntington’s disease. NEJM, 2019;380(24):23072316. doi: 10.1056/NEJMoa1900907.CrossRefGoogle ScholarPubMed
International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 2008;455(7210):237241.CrossRefGoogle Scholar
Ripke, S, Neale, BM, Corvin, A, et al. Biological insights from 108 schizophrenia-associated genetic loci. Nature, 2014;511(7510):421427. doi: 10.1038/nature13595.Google Scholar
Singh, T, Kurki, MI, Curtis, D, et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neuroscience, 2016; 19(4):571577. doi: 10.1038/nn.4267.CrossRefGoogle ScholarPubMed
Mukai, J, Cannavò, E, Crabtree, GW, et al. Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice. Neuron, 2019;104(3):471487.e12. doi: 10.1016/j.neuron.2019.09.014.CrossRefGoogle ScholarPubMed

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  • Neurogenetics
  • Edited by Niruj Agrawal, St George's Hospital Medical School, University of London, Norman Poole, South London and the Maudsley NHS Foundation Trust
  • Book: Essential Neuroscience for Psychiatrists
  • Online publication: 12 March 2025
  • Chapter DOI: https://doi.org/10.1017/9781911623083.009
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Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

  • Neurogenetics
  • Edited by Niruj Agrawal, St George's Hospital Medical School, University of London, Norman Poole, South London and the Maudsley NHS Foundation Trust
  • Book: Essential Neuroscience for Psychiatrists
  • Online publication: 12 March 2025
  • Chapter DOI: https://doi.org/10.1017/9781911623083.009
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Neurogenetics
  • Edited by Niruj Agrawal, St George's Hospital Medical School, University of London, Norman Poole, South London and the Maudsley NHS Foundation Trust
  • Book: Essential Neuroscience for Psychiatrists
  • Online publication: 12 March 2025
  • Chapter DOI: https://doi.org/10.1017/9781911623083.009
Available formats
×