Functional Connectivity Networks in Asymptomatic and Symptomatic DYT1 Carriers

Abstract

Background: DYT1 mutation is characterized by focal to generalized dystonia and incomplete penetrance. To explore the complex perturbations in the different neu-ral networks and the mutual interactions among them, we studied symptomatic and asymptomatic DTY1 mutation carriers by resting-state functional MRI. Methods: A total of 7 symptomatic DYT1, 10 asymp-tomatic DYT1, and 26 healthy controls were consid-ered. Resting-state functional MRI (Oxford Centre for Functional MRI of the Brain) [FMRIB] Software Library) (FSL) MELODIC, dual regression, (as a toolbox of FSL, with Nets is referred to "networks") (FSLNets) (http:// fsl.fmrib.ox.ac.uk/fsl/fslwiki/FSLNets) was performed on 9 resting-state neural networks. Results: DYT1 mutation signature (symptomatic DYT1 and asymptomatic DYT1) was characterized by increased connectivity in the dorsal attention network and in the left fronto-parietal network. Functional corre-lates of symptomatic DYT1 patients (symptomatic DYT1 vs healthy controls) showed increased connec-tivity in the sensorimotor network. Discussion: This study argues that DYT1 dystonia is a network disorder, with crucial nodes in sensorymotor integration of posterior parietal structures. A better characterization of cortical networks involved in dysto-nia is crucial for possible neurophysiological therapeu-tic interventions. V C 2016 International Parkinson and Movement Disorder Society

Biased Visuospatial Attention in Cervical Dystonia

“…Abnormal hyper-activity of this neural network might explain our findings. Although idiopathic cervical dystonia has long been considered to be related to dysfunction of the basal ganglia, recent evidence also suggests the involvement of PPC (de Vries et al, 2012;Premi et al, 2016;Ricci et al, 2014) and cerebellum (Filip, Lungu, Shaw, Kasparek, & Bares, 2013;Kuoppamaki, Giunti, Quinn, Wood, & Bhatia, 2003;Perruchoud, Murray, Lefebvre, & Ionta, 2014;Prudente, Hess, & Jinnah, 2014) in its pathophysiology.…”

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review

“…Neuroimaging studies have helped to delineate metabolic and microstructural abnormalities in dystonia patients and gene carriers, and most of the findings point to a disturbed connectivity in the CSPTC and CbTC pathways as highlighted in the findings from functional neuroimaging studies in the reviewed studies as highlighted in Table 1, and can be summarized as (1) increased metabolic activity in the lentiform nucleus, supplementary motor area, and cerebellum in addition (Carbon et al., 2004; Carbon et al., 2008a,b; Eidelberg et al., 1998; Ghilardi et al., 2003), (2) reduced striatal GABA and dopamine receptors (Carbon & Eidelberg, 2009; Garibotto et al., 2011), and (3) abnormal cerebellothalamocortical pathway (Carbon et al., 2004; Carbon et al., 2008a,b; Carbon et al., 2011; Draganski et al., 2009; Premi et al., 2016; Sako et al., 2015; Vo et al., 2013)…”

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm

“…More recently, toolboxes and commercial deep brain stimulation software are incorporating personalized or normative diffusion MRI-based tractography to estimate locations of white matter motor pathways in relation to the simulation maps. These connectomic approaches to deep brain stimulation programming have been fueled by literature revealing abnormal structural and functional network connectivity in dystonia [57][58][59][60] and implicating specific neural pathways as predictors of outcome in deep brain stimulation for movement disorders. 61,62 Although these toolboxes are still research-based and have some limitations in pediatric clinical care, it is likely such programs will soon be used to optimize deep brain stimulation programming in children.…”