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Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome

  • Rajeev Krishnadas (a1), Sally-Ann Cooper (a1), Alice Nicol (a2), Sally Pimlott (a3), Sarita Soni (a1), Anthony J Holland (a4), Laura McArthur (a5) and Jonathan Cavanagh (a1)...

Summary

Prader–Willi syndrome (PWS) is a rare condition because of the deletion of paternal chromosomal material (del PWS), or a maternal uniparental disomy (mUPD PWS), at 15q11-13. Affective psychosis is more prevalent in mUPD PWS. We investigated the relationship between the two PWS genetic variants and brain-stem serotonin transporter (5-HTT) availability in adult humans. Mean brain-stem 5-HTT availability determined by [123I]-beta-CIT single photon emission tomography was lower in eight adults with mUPD PWS compared with nine adults with del PWS (mean difference −0.93, t = −2.85, P = 0.014). Our findings confirm an association between PWS genotype and brain-stem 5-HTT availability, implicating a maternally expressed/paternally imprinted gene, that is likely to account for the difference in psychiatric phenotypes between the PWS variants.

Declaration of interest

None.

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Copyright

Corresponding author

Correspondence: Rajeev Krishnadas, Institute of Neuroscience and Psychology, University of Glasgow, 58 Hillhead Street, Glasgow G12 8QB, UK. Email: rajeev.krishnadas@glasgow.ac.uk

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References

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Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome

  • Rajeev Krishnadas (a1), Sally-Ann Cooper (a1), Alice Nicol (a2), Sally Pimlott (a3), Sarita Soni (a1), Anthony J Holland (a4), Laura McArthur (a5) and Jonathan Cavanagh (a1)...

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Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome

  • Rajeev Krishnadas (a1), Sally-Ann Cooper (a1), Alice Nicol (a2), Sally Pimlott (a3), Sarita Soni (a1), Anthony J Holland (a4), Laura McArthur (a5) and Jonathan Cavanagh (a1)...
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