Uncovering basal ganglia changes in TSC with DTI

Self-injurious behavior (SIB) occurs in 10-41% of individuals with tuberous sclerosis complex (TSC). SIB can result in tissue damage or loss and has no cure. Although the pathophysiology of SIB is unknown, abnormalities in the basal ganglia are associated with features of TSC. Given this association, Tanjala Gipson, MD, and colleagues used magnetic resonance imaging and diffusion tensor imaging (DTI) to identify a relationship between basal ganglia changes and SIB. The authors compared DTI findings between children with TSC and SIB and those with TSC without SIB.

Children with TSC and SIB exhibited significant volume reductions in the bilateral globus pallidus and caudate nucleus. Moreover, fractional anisotropy was significantly lower in the bilateral globus pallidus and left caudate in these children. Based on these findings, DTI is a potential biomarker for SIB in TSC. In the future, treatments targeting the basal ganglia may provide relief from SIB.

T.T. Gipson, A. Poretti, S.A. Kelley, K.A. Carson, M.V. Johnston, and T.A.G.M. Huisman. Characterization of the basal ganglia using diffusion tensor imaging in children with self-injurious behavior and tuberous sclerosis complex, Journal of Neuroimaging, Volume 29, May 2019, Pages 506-511, https://doi.org/10.1111/jon.12628