Brain Structural Changes in Focal Dystonia—What About Task Specificity? A Multimodal <scp>MRI</scp> Study

Tomić, Aleksandra; Sarasso, Elisabetta; Svetel, Marina; Kresojević, Nikola; Fontana, Andrea; Canu, Elisa; Petrović, Igor; Kostić, Vladimir; Filippi, Massimo

doi:10.1002/mds.28304

Cited by 38 publications

(37 citation statements)

References 58 publications

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“…retrospectively analysed 1,215 normal elderly individuals and found that albuminuria was associated with brain cortical thinning, whereas frontal and occipital regions were the most related regions, implying that albuminuria may directly cause neuronal toxicity and eventually result in TH alterations [38] . Alterations of TH have also been reported in dystonia, voice tremor, Parkinson's disease, depression, schizophrenia, attention deficit hyperactivity disorder, and insomnia [39] , [40] , [41] , [42] . Our estimates indicate that albuminuria causally reduces global TH.…”

Section: Discussionmentioning

confidence: 94%

Kidney damage causally affects the brain cortical structure: A Mendelian randomization study

et al. 2021

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Background Alterations in the brain cortical structures of patients with chronic kidney disease (CKD) have been reported; however, the cause has not been determined yet. Herein, we used Mendelian randomization (MR) to reveal the causal effect of kidney damage on brain cortical structure. Methods Genome-wide association studies summary data of estimated glomerular filtration rate (eGFR) in 480,698 participants from the CKDGen Consortium were used to identify genetically predicted eGFR. Data from 567,460 individuals from the CKDGen Consortium were used to assess genetically determined CKD; 302,687 participants from the UK Biobank were used to evaluate genetically predicted albuminuria. Further, data from 51,665 patients from the ENIGMA Consortium were used to assess the relationship between genetic predisposition and reduced eGFR, CKD, and progressive albuminuria with alterations in cortical thickness (TH) or surficial area (SA) of the brain. Magnetic resonance imaging was used to measure the SA and TH globally and in 34 functional regions. Inverse-variance weighted was used as the primary estimate whereas MR Pleiotropy RESidual Sum and Outlier, MR-Egger and weighted median were used to detect heterogeneity and pleiotropy. Findings At the global level, albuminuria decreased TH (β = −0.07 mm, 95% CI: −0.12 mm to −0.02 mm, P = 0.004); at the functional level, albuminuria reduced TH of pars opercularis gyrus without global weighted (β = −0.11 mm, 95% CI: −0.16 mm to −0.07 mm, P = 3.74×10 −6 ). No pleiotropy was detected. Interpretation Kidney damage causally influences the cortex structure which suggests the existence of a kidney-brain axis. Funding This study was supported by the Science and Technology Planning Project of Guangdong Province (Grant No. 2020A1515111119 and 2017B020227007), the National Key Research and Development Program of China (Grant No. 2018YFA0902803), the National Natural Science Foundation of China (Grant No. 81825016, 81961128027, 81772719, 81772728), the Key Areas Research and Development Program of Guangdong (Grant No. 2018B010109006), Guangdong Special Support Program (2017TX04R246), Grant KLB09001 from the Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, and Grants from the Guangdong Science and Technology Department (2020B1212060018).

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Section: Discussionmentioning

confidence: 94%

Kidney damage causally affects the brain cortical structure: A Mendelian randomization study

et al. 2021

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“…The interplay between basal ganglia and cerebellum highlights that the cerebellum is a potential treatment target for dystonia (Tewari et al 2017). An unmet need in dystonia research is the uncertainty whether these new concepts apply to all or only a subgroup of dystonias (Tomic et al 2020). Other poorly understood aspects are the insufficient mapping of non-motor signs and the changes in non-motor-related circuits due to dystonia.…”

Section: Discussionmentioning

confidence: 99%

Contemporary functional neuroanatomy and pathophysiology of dystonia

Brüggemann

2021

J Neural Transm

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Dystonia is a disabling movement disorder characterized by abnormal postures or patterned and repetitive movements due to co-contraction of muscles in proximity to muscles desired for a certain movement. Important and well-established pathophysiological concepts are the impairment of sensorimotor integration, a loss of inhibitory control on several levels of the central nervous system and changes in synaptic plasticity. These mechanisms collectively contribute to an impairment of the gating function of the basal ganglia which results in an insufficient suppression of noisy activity and an excessive activation of cortical areas. In addition to this traditional view, a plethora of animal, genetic, imaging and electrophysiological studies highlight the role of the (1) cerebellum, (2) the cerebello-thalamic connection and (3) the functional interplay between basal ganglia and the cerebellum in the pathophysiology of dystonia. Another emerging topic is the better understanding of the microarchitecture of the striatum and its implications for dystonia. The striosomes are of particular interest as they likely control the dopamine release via inhibitory striato-nigral projections. Striosomal dysfunction has been implicated in hyperkinetic movement disorders including dystonia. This review will provide a comprehensive overview about the current understanding of the functional neuroanatomy and pathophysiology of dystonia and aims to move the traditional view of a ‘basal ganglia disorder’ to a network perspective with a dynamic interplay between cortex, basal ganglia, thalamus, brainstem and cerebellum.

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“…The mechanism behind the psychiatric features may relate to changes within a network involving the amygdala. Recently, by voxel based morphometry, patients with task specific dystonias showed enlarged amygdala volumes 16 . The amygdala is crucial in emotional regulation and alterations in amygdala volume has been linked with major depressive disorder 17 .…”

Section: Discussionmentioning

confidence: 99%

Reliability of DNMSQuest as a Screening Tool for Mood Disorders in Cervical Dystonia

Rafee

Ndukwe

O’Riordan

et al. 2021

Movement Disord Clin Pract

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Background The high prevalence of mood disorders in cervical dystonia, often unaddressed in botulinum toxin clinics, is a major factor in impaired quality of life. There is a clear need for a brief screening method for identifying these disorders; the Dystonia non‐motor symptoms questionnaire (DNMSQuest) has been proposed as such. Objective We aimed to assess the practical utility of the DNMSQuest and compare it with validated rating scales for anxiety, depression and quality of life. Methods In 88 patients with cervical dystonia, we compared results from the DNMSQuest with mood rating scales [Beck Anxiety Inventory (BAI), Beck Depression Index (BDI‐II) and Hospital Anxiety and Depression Scale (HADS)], quality of life measures [European Quality of Life (EQOL) and European Quality of Life Visual Analogue Scale (EQOLVAS)] and with assessments of dystonia severity [Cervical Dystonia Impact Profile‐58 (CDIP58) and Toronto Western Rating Scale for Spasmodic Torticollis (TWSTRS)]. Results Using a cut off score on the DNMSQuest of 5, we noted that DNMSQuest had a sensitivity of 85% for detecting anxiety and depression using the BAI and BDI‐II, and 76% and 78% for anxiety and depression respectively using the HADS. The DNMSQuest correlated strongly with BAI (ρ = 0.715), BDI‐II (ρ = 0.658), HADS‐Anxiety (ρ = 0.616), HADS‐Depression (ρ = 0.706), EQOL (ρ = 0.653) and CDIP‐58 (ρ = 0.665). Conclusion The DNMSQuest is a brief, sensitive and non‐specific instrument for identifying patients that warrant further review for anxiety and depression and can easily be implemented in a neurologist‐run botulinum toxin clinic.

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Brain Structural Changes in Focal Dystonia—What About Task Specificity? A Multimodal MRI Study

Cited by 38 publications

References 58 publications

Kidney damage causally affects the brain cortical structure: A Mendelian randomization study

Kidney damage causally affects the brain cortical structure: A Mendelian randomization study

Contemporary functional neuroanatomy and pathophysiology of dystonia

Reliability of DNMSQuest as a Screening Tool for Mood Disorders in Cervical Dystonia

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