Neuroimaging Applications in Dystonia

Abstract

Dystonia is a neurological disorder characterized by involuntary, repetitive movements. Although the precise mechanisms of dystonia development remain unknown, the diversity of its clinical phenotypes is thought to be associated with multifactorial pathophysiology, which is linked not only to alterations of brain organization, but also environmental stressors and gene mutations. This chapter will present an overview of the pathophysiology of isolated dystonia through the lens of applications of major neuroimaging methodologies, with links to genetics and environmental factors that play a prominent role in symptom manifestation.

A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

“…All of these identified brain regions have been previously reported to exhibit structural or functional alterations in different forms of dystonia (recent review in ref. 18 ). The pathophysiological relevance of this biomarker is reflected in its high generalizability for accurate diagnosis of dystonia across the phenotypical spectrum of this disorder, as described below.…”

“…The performance and generalizability of DystoniaNet in delivering a highly accurate diagnosis across different forms of dystonia without any additional requirements for dystonia form-specific model retraining is based on its capability to identify the common features of disorder pathophysiology ( 18 ). Specifically, the biomarker components that were automatically learned by DystoniaNet as most informative for discriminating the disorder have been previously demonstrated to be aberrant in patients with dystonia.…”

“…Much of the challenges associated with the development of a diagnostic biomarker for isolated dystonia have been historically related to its unclear pathophysiology. Recent advances in brain imaging methodologies and analytical techniques have allowed the identification of widespread alterations of brain structure and function in this disorder, involving not only the basal ganglia and cerebellum but also higher-order motor and associative cortical regions ( 18 ). Different forms of dystonia have been characterized by similarities in large-scale disorganization of gray and white matter architecture, including abnormal distribution of influential regions of information transfer (hubs) in prefrontal, parietal, occipital cortices and thalamus and reduced connectivity of the sensorimotor and frontoparietal regions ( 19 – 23 ).…”

Nonmotor symptoms in dystonia: Pathophysiological implications

“…[ 9 ] Latest voxel-based neuroimaging indicates the increased volume in the putamen, sensorimotor cortex, cerebellum, and thalamus in sporadic dystonia. [ 10 ] Diffusion tensor imaging shows increased fractional anisotropy in the fiber tracts connecting the basal ganglia, cortex, and cerebellum. [ 10 ] As an overview, the cortico-striatal-thalamic-cortical circuit seems to be most obviously involved in these cases.…”

“…[ 10 ] Diffusion tensor imaging shows increased fractional anisotropy in the fiber tracts connecting the basal ganglia, cortex, and cerebellum. [ 10 ] As an overview, the cortico-striatal-thalamic-cortical circuit seems to be most obviously involved in these cases. Nevertheless, as it is seen with almost all pathways of the human brain, this frontostriatal circuit is interconnected with the circuits that are related to sleep, cognition, perception, reward processing, and other neuropsychiatric domains.…”