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Br J Psychiatry. 2018 Jan;212(1):57-58. doi: 10.1192/bjp.2017.7.

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

Author information

1
Institute of Health and Wellbeing,University of Glasgow,Glasgow,UK.
2
Institute of Neurological Sciences,Southern General Hospital,Glasgow,UK.
3
West of Scotland Radionuclide Dispensary,Greater Glasgow and Clyde NHS Trust,Glasgow,UK.
4
Department of Psychiatry,University of Cambridge,Cambridge,UK.
5
(deceased).

Abstract

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.

PMID:
29433608
DOI:
10.1192/bjp.2017.7
[Indexed for MEDLINE]

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