Disruption in cerebellar and basal ganglia networks during a visuospatial task in cervical dystonia

Filip, Pavel; Gallea, Cécile; Lehericy, Stéphane; Bertasi, Eric; Popa, Traian; Mareček, Radek; Lungu, Ovidiu; Kašpárek, Tomáš; Vaníček, Jiří; Bareš, Martin

doi:10.1002/mds.26930

Cited by 81 publications

(63 citation statements)

References 73 publications

(92 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Nevertheless, it is an intriguing observation, as cerebellar lobule VI has been found to be involved not only in human sensorimotor integration and movement control in functional imaging but also direct cortical stimulation studies . Beyond that, atrophy of lobule VI, respectively, lobule VIIa has been reported in PD and early onset Huntington disease, whereas fMRI hypo‐metabolism in lobule VI has been reported in both dystonia and the parkinsonian variant of multiple system atrophy and in a motor timing trial in PD .…”

Section: Discussionmentioning

confidence: 99%

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

et al. 2017

View full text Add to dashboard Cite

Background: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce. Objective: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders. Methods: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n = 50), the prevalence and clinical presentation of video‐documented movement disorders was assessed. Voxel‐based morphometry from high‐resolution MRI was employed to compare cerebral and cerebellar gray matter volume between mitochondrial disease patients with and without movement disorders and healthy controls. Results: Of the 50 (30%) patients with genetically confirmed mitochondrial disease, 15 presented with hypokinesia (parkinsonism 3/15), hyperkinesia (dystonia 5/15, myoclonus 3/15, chorea 2/15), and ataxia (3/15). In 3 patients, mitochondrial disease presented as adult‐onset isolated dystonia. In comparison to healthy controls and mitochondrial disease patients without movement disorders, patients with hypo‐ and hyperkinetic movement disorders had significantly more cerebellar atrophy and an atrophy pattern predominantly involving cerebellar lobules VI and VII. Conclusion: This series provides clinical, genetic, volumetric imaging, and histologic data that indicate major involvement of the cerebellum in mitochondrial disease when it presents with hyper‐ and hypokinetic movement disorders. As a working hypothesis addressing the particular vulnerability of the cerebellum to energy deficiency, this adds substantially to the pathophysiological understanding of movement disorders in mitochondrial disease. Furthermore, it provides evidence that mitochondrial disease can present as adult‐onset isolated dystonia. © 2017 International Parkinson and Movement Disorder Society

show abstract

Section: Discussionmentioning

confidence: 99%

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Many of the genetic diseases reviewed here encompass complex phenotypes due to neurodegeneration of multiple systems and structures, including the alteration of both basal ganglia and cerebellum, which may explain the occurrence of dystonia in the setting of ataxia and other neurological features. There is growing evidence of an important role of the cerebellar dysfunction in dystonia . Animal models of generalized dystonia showed abnormal cerebellar activity, and dystonia can be independent of the basal ganglia and can be alleviated or abolished by inactivation of the cerebellum .…”

Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

View full text Add to dashboard Cite

Background Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever‐expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia‐ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico‐radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia‐ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia‐ataxia syndromes.

show abstract

“…2A). In addition, these studies revealed that gray matter changes in focal dystonias further extend to the other divisions of the basal ganglia, most commonly including caudate nucleus and globus pallidus, as well as thalamus and cerebellum (Delmaire et al, 2005; Draganski et al, 2003; Egger et al, 2007; Filip et al, 2017; Obermann et al, 2007; Pantano et al, 2011; Simonyan & Ludlow, 2012; Waugh et al, 2016; Zeuner et al, 2015). More importantly, structural alterations were shown to involve some of the key cortical regions, responsible for sensorimotor processing, integration and motor execution, such as frontoparietal, supplementary motor and primary sensorimotor areas (Delmaire et al, 2005; Draganski et al, 2003; Egger et al, 2007; Garraux et al, 2004; Granert, Peller, Jabusch, et al, 2011; Horovitz, Gallea, Najee-Ullah, & Hallett, 2013; Martino et al, 2011; Pantano et al, 2011; Ramdhani et al, 2014; Simonyan & Ludlow, 2012).…”

Section: Structural Neuroimaging Of Dystoniamentioning

confidence: 97%

Neuroimaging Applications in Dystonia

Simonyan

2018

International Review of Neurobiology

View full text Add to dashboard Cite

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.

show abstract

Disruption in cerebellar and basal ganglia networks during a visuospatial task in cervical dystonia

Abstract: This promotes the view that dystonia results from miscommunication between the basal ganglia and cerebellar loops, thus providing new insights into the brain regions essential for the development of cervical dystonia. © 2017 International Parkinson and Movement Disorder Society.

Cited by 81 publications

References 73 publications

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Neuroimaging Applications in Dystonia

Contact Info

Product

Resources

About