Striatal dopamine transporter binding in adults with 22q11.2 copy number variants: a SPECT study
Abstract
Copy number variants at the 22q11.2 chromosomal locus, hemizygous 22q11.2 deletions or duplications, are associated with a broad spectrum of neuropsychiatric and other medical conditions. Individuals with a 22q11.2 deletion are at increased risk for developing early-onset Parkinson’s disease. The catechol-O-methyltransferase gene at 22q11.2 is involved in dopamine metabolism. While previous studies have examined several aspects of dopamine function in individuals with 22q11.2 copy number variants, striatal dopamine transporter availability, a regulator of synaptic dopamine, has not yet been systematically investigated. Therefore, dopamine transporter availability was quantified in nine adults with a 22q11.2 deletion, nine with a 22q11.2 duplication and eight controls using a brain-dedicated single-photon emission computed tomography (SPECT) system. Specific striatal binding ratios were calculated with the occipital lobe as the reference region. Permutation analysis of covariance controlling for age and sex showed significantly higher striatal dopamine transporter availability in adults with 22q11.2 deletions compared with those with duplications (P = 0.026, η2p = 0.30). No significant differences were observed between adults with 22q11.2 copy number variants and controls. These findings suggest distinct nigrostriatal dopaminergic profiles associated with 22q11.2 copy number variant status, which may play a role in shaping frequently occurring neurological and psychiatric phenotypes in these individuals.
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BibTeX
@article{spapens2026striatal,
title = {{Striatal dopamine transporter binding in adults with 22q11.2 copy number variants: a SPECT study}},
author = {Jeltje C C Spapens and Carmen F van Hooijdonk and Rik Schalbroeck and Amy L Sylvester and Erik Boot and Thérèse A M J van Amelsvoort and Claudia Vingerhoets and Jan Booij},
journal = {Brain Communications},
year = {2026},
month = oct,
doi = {10.1093/braincomms/fcag395},
url = {https://doi.org/10.1093/braincomms/fcag395},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Striatal dopamine transporter binding in adults with 22q11.2 copy number variants: a SPECT study
AU - Jeltje C C Spapens
AU - Carmen F van Hooijdonk
AU - Rik Schalbroeck
AU - Amy L Sylvester
AU - Erik Boot
AU - Thérèse A M J van Amelsvoort
AU - Claudia Vingerhoets
AU - Jan Booij
PY - 2026
DA - 2026/10/19
JO - Brain Communications
DO - 10.1093/braincomms/fcag395
UR - https://doi.org/10.1093/braincomms/fcag395
AB - Copy number variants at the 22q11.2 chromosomal locus, hemizygous 22q11.2 deletions or duplications, are associated with a broad spectrum of neuropsychiatric and other medical conditions. Individuals with a 22q11.2 deletion are at increased risk for developing early-onset Parkinson’s disease. The catechol-O-methyltransferase gene at 22q11.2 is involved in dopamine metabolism. While previous studies have examined several aspects of dopamine function in individuals with 22q11.2 copy number variants, striatal dopamine transporter availability, a regulator of synaptic dopamine, has not yet been systematically investigated. Therefore, dopamine transporter availability was quantified in nine adults with a 22q11.2 deletion, nine with a 22q11.2 duplication and eight controls using a brain-dedicated single-photon emission computed tomography (SPECT) system. Specific striatal binding ratios were calculated with the occipital lobe as the reference region. Permutation analysis of covariance controlling for age and sex showed significantly higher striatal dopamine transporter availability in adults with 22q11.2 deletions compared with those with duplications (P = 0.026, η2p = 0.30). No significant differences were observed between adults with 22q11.2 copy number variants and controls. These findings suggest distinct nigrostriatal dopaminergic profiles associated with 22q11.2 copy number variant status, which may play a role in shaping frequently occurring neurological and psychiatric phenotypes in these individuals.
SN - 2632-1297
ER -