Aleksandra Tomić1, Federica Agosta2,3, Elisabetta Sarasso2,3, Marina Svetel1, Nikola Kresojević1, Andrea Fontana4, Elisa Canu2, Igor Petrović1, Vladimir S Kostić1, Massimo Filippi2,3,5. 1. Clinic of Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia. 2. Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. 3. Vita-Salute San Raffaele University, Milan, Italy. 4. Unit of Biostatistics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. 5. Neurology Unit and Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Abstract
BACKGROUND: The neural basis of task specificity in dystonia is still poorly understood. This study investigated gray and white matter (WM) brain alterations in patients with task-specific dystonia (TSD) and non-task-specific dystonia (NTSD). METHODS: Thirty-six patients with TSD (spasmodic dysphonia, writer's cramp), 61 patients with NTSD (blepharospasm, cervical dystonia), and 83 healthy controls underwent 3D T1-weighted and diffusion tensor magnetic resonance imaging (MRI). Whole brain cortical thickness and voxel-based morphometry; volumes of basal ganglia, thalamus, nucleus accumbens, amygdala, and hippocampus; and WM damage were assessed. Analysis of variance models were used to compare MRI measures between groups, adjusting for age and botulinum toxin (BoNT) treatment. RESULTS: The comparison between focal dystonia patients showed cortical thickness and gray matter (GM) volume differences (ie, decreased in NTSD, increased in TSD) in frontal, parietal, temporal, and occipital cortical regions; basal ganglia; thalamus; hippocampus; and amygdala. Cerebellar atrophy was found in NTSD patients relative to controls. WM damage was more severe and widespread in task-specific relative to NTSD patients. TSD patients receiving BoNT, relative to nontreated patients, had cortical thickening and increased GM volume in frontoparietal, temporal, and occipital regions. NTSD patients experiencing pain showed cortical thickening of areas involved in pain-inhibitory mechanisms. CONCLUSIONS: TSD and NTSD are characterized by opposite alterations of the main cortical and subcortical sensorimotor and cognitive-controlling brain structures, suggesting the possible presence of different pathophysiological and/or compensatory mechanisms underlying the complexity of the two clinical phenotypes of focal dystonia.
BACKGROUND: The neural basis of task specificity in dystonia is still poorly understood. This study investigated gray and white matter (WM) brain alterations in patients with task-specific dystonia (TSD) and non-task-specific dystonia (NTSD). METHODS: Thirty-six patients with TSD (spasmodic dysphonia, writer's cramp), 61 patients with NTSD (blepharospasm, cervical dystonia), and 83 healthy controls underwent 3D T1-weighted and diffusion tensor magnetic resonance imaging (MRI). Whole brain cortical thickness and voxel-based morphometry; volumes of basal ganglia, thalamus, nucleus accumbens, amygdala, and hippocampus; and WM damage were assessed. Analysis of variance models were used to compare MRI measures between groups, adjusting for age and botulinum toxin (BoNT) treatment. RESULTS: The comparison between focal dystoniapatients showed cortical thickness and gray matter (GM) volume differences (ie, decreased in NTSD, increased in TSD) in frontal, parietal, temporal, and occipital cortical regions; basal ganglia; thalamus; hippocampus; and amygdala. Cerebellar atrophy was found in NTSD patients relative to controls. WM damage was more severe and widespread in task-specific relative to NTSD patients. TSDpatients receiving BoNT, relative to nontreated patients, had cortical thickening and increased GM volume in frontoparietal, temporal, and occipital regions. NTSD patients experiencing pain showed cortical thickening of areas involved in pain-inhibitory mechanisms. CONCLUSIONS:TSD and NTSD are characterized by opposite alterations of the main cortical and subcortical sensorimotor and cognitive-controlling brain structures, suggesting the possible presence of different pathophysiological and/or compensatory mechanisms underlying the complexity of the two clinical phenotypes of focal dystonia.
Authors: Maggie Fagan; Laura Scorr; Doug Bernhardt; Ellen J Hess; Joel S Perlmutter; Carlos A Pardo; H A Jinnah Journal: Exp Neurol Date: 2021-08-28 Impact factor: 5.330
Authors: Kristina Simonyan; Stefan K Ehrlich; Richard Andersen; Jonathan Brumberg; Frank Guenther; Mark Hallett; Matthew A Howard; José Del R Millán; Richard B Reilly; Tanja Schultz; Davide Valeriani Journal: Mov Disord Date: 2022-08-10 Impact factor: 9.698
Authors: Aloysius Domingo; Rachita Yadav; Shivangi Shah; William T Hendriks; Serkan Erdin; Dadi Gao; Kathryn O'Keefe; Benjamin Currall; James F Gusella; Nutan Sharma; Laurie J Ozelius; Michelle E Ehrlich; Michael E Talkowski; D Cristopher Bragg Journal: Am J Hum Genet Date: 2021-10-20 Impact factor: 11.025