Quantitative susceptibility mapping of deep brain nuclei in 22q11.2 deletion syndrome.

ABSTRACT:

Background

22q11.2 Deletion Syndrome (22q11.2 DS) confers a high risk to dopamine-related disorders such as schizophrenia and Parkinson's disease. These disorders have recently been associated with abnormal iron concentrations in deep brain nuclei. In this study we hypothesized that abnormal iron concentrations may also appear in deep brain nuclei of individuals with 22q11.2 DS.

Methods

We analyzed iron concentrations in four dopamine-related nuclei (caudate, putamen, substantia nigra, and globus pallidus) of 32 individuals, including adolescents and adults, carriers of the 22q11.2 DS and 49 healthy controls. For all individuals, we characterized iron concentrations in each region by quantifying R2* values and using a recently developed technique called Quantitative Suscepti

SUBMITTER: Munoz N 

PROVIDER: S-EPMC12829479 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature