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Eckart Altenmüller - One of the best experts on this subject based on the ideXlab platform.
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psychodiagnostics classification of the yips phenomenon based on musician s Dystonia
Medicine and Science in Sports and Exercise, 2018Co-Authors: Christos I Ioannou, Martin K Klampfl, Babett H Lobinger, Markus Raab, Eckart AltenmüllerAbstract:Purpose: Similar to musician’s Focal Dystonia a task-specific phenomenon, known as yips has also been reported in professional athletes. Yips is usually described as Focal Dystonia, or choking under pressure, or as lying on a continuum between both. Based on the common occupational conditions across musicians and athletes, the present exploratory study aimed to investigate whether musicians diagnosed with Focal Dystonia and golfers affected with yips, can be similarly sub-classified based on their psychological profiles. Methods: Twenty healthy musicians, 20 musicians with Focal Dystonia, 20 healthy golfers and 20 yips-affected golfers went through a test battery including three psycho-diagnostic standardized questionnaires (the Competitive Trait Anxiety Inventory, the Frost’s Multidimensional Perfectionism Scale, and the Stress Coping Questionnaire), measuring trait cognitive and somatic anxiety, perfectionistic tendencies and different stress coping strategies. Results: Findings based on a clustering procedure suggest that similar to musician’s Dystonia, yips-affected golfers can be classified into those with and those without specific elevated perfectionistic, stress and anxiety traits. The roles of these different psychological profiles as possible triggering factors of the yips are discussed and compared to those of musician’s Dystonia. Conclusion: The current study suggests that the yips phenomenon might cover a broader range of different subtypes of movement disturbances than those already suggested in the literature. Finally a theoretical model, which explains the role of the different triggering factors in the discrimination of the different subtypes, is suggested. A better classification and understanding of the different subtypes of yips could lead to a more accurate diagnosis and to the design of more individualized treatment intervention.
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the impact of stress on motor performance in skilled musicians suffering from Focal Dystonia physiological and psychological characteristics
Neuropsychologia, 2016Co-Authors: Christos I Ioannou, Shinichi Furuya, Eckart AltenmüllerAbstract:Recent investigations have suggested that stress can modulate motor function. However, the impact of stress on motor performance of musicians suffering from Focal Dystonia (FDM) remains unknown. The current study assessed motor performance in 20 FDM patients and 16 healthy musicians (HM) before and under stress. Stress was manipulated using the Trier Social Stress Test (TSST). Motor performance was evaluated based on analysis of electromyographic (EMG) activity and temporal variability, while electrocardiography (ECG) and the level of free cortisol were used to test for objective alterations of the hypothalamic-pituitary-adrenal (HPA) axis. Finally, the psychological profiles of both groups were analyzed using three psycho-diagnostic standardized questionnaires. Results showed that patients' motor impairments did not change under acute stressful conditions. However, an increase in muscular co-contractions was observed, reflecting a physiological muscular response under stressful conditions. Psycho-diagnostic analysis revealed higher levels of psychological traits related to elevated anxiety, stress and perfectionism in 40% of the patients. Although the motor outcome between those patients and those with an opposing psychological profile did not differ, patients characterized by stressful and perfectionistic personalities had, on average, developed Dystonia about ten years earlier than the rest of the patients. The current study suggests that acute stress conditions may not have any direct impact on fine motor control of FDM patients. However psychological traits associated with increased stress, anxiety and perfectionism may have a long-lasting effect on the motor function of affected musicians, by promoting the acceleration or even the triggering of Dystonia.
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Focal Dystonia in musicians: An acquired musical disorder?
2015Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Performing music at a professional level requires the integration of multimodal sensory and motor information and precise monitoring of the performance via auditory feedback. In the context of western classical music, musicians are forced to reproduce highly controlled movements almost perfectly with a high reliability. These specialized sensory-motor skills are acquired during extensive training periods over many years, starting in early infancy and passing through stages of increasing physical and strategic complexities. The superior skills of musicians are mirrored in plastic adaptations of the brain on different time scales (for a review, see: Münte et al. 2002). There is a dark side to the increasing specialisation and prolonged training of modern musicians, namely loss of control and degradation of skilled hand movements, a disorder referred to as musicians’ cramp or Focal Dystonia. In our musicians ’ clinic, we have seen 360 professional musicians with Focal Dystonia during the last 10 years. The disorder presents as painless muscular incoordination or loss of voluntary motor control of highly trained movements while playing the instrument. According to new research data, Focal Dystonia may be caused by training induced cortical dysplasticity with pathological fusion of somatosensory representations in sensory or motor cortical regions. Considering 1) the historical advent of the disorder in the nineteenth century with rapidly increasing technical demands imposed on musicians, 2) the epidemiological data with repetitive and spatiotemporally precise physical activity as a risk factor, and 3) neurobiological findings of the blurring of somato-sensory representations, one is tempted to state that Focal Dystonia fi-nally marks the natural limits of a process of refinement of manual dexterity over a million years. However, a hereditary component seems to play a role, since according to a presently conducted neurogenetical study in more than 15 % of our patients, (non- musician) members of the family are afflicted with other forms of Focal Dystonia
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life satisfaction of musicians with Focal Dystonia
Occupational Medicine, 2015Co-Authors: Christoph Eich, Christos I Ioannou, Eckart AltenmüllerAbstract:Background Little is kno wn about the effects of musicians’ Dystonia (MD) on patients’ life satisfaction. Aims T o assess general life satisfaction in patients with MD with regard to their health and jobs, in relation to the duration and course of the condition. Methods W e asked patients with MD and a group of healthy musicians (controls) to complete a life satisfaction questionnaire. We analysed responses from those who had to change their profession and those who did not, and we assessed life satisfaction scores in relation to the duration and the course of the condition. Results Of the 642 pa tients contacted, 295 responded (46%). We excluded 52 amateur musicians and analysed a sample of 243 patients with MD. We contacted an unknown number of healthy musicians and 57 responded. We found no differences in life satisfaction between patients and controls or between patients who had to change their profession and those who did not and no correlations between life satisfaction and the duration or the course of the disease. Conclusions Musicians find a w ay to cope with Dystonia, irrespective of the course of the disease or a change of profession. Patients should be made aware of self-regulatory mechanisms and the probability of being able to cope and be supported in selecting their goals and achieving them.
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a model of task specific Focal Dystonia
Neural Networks, 2013Co-Authors: Eckart Altenmüller, Dieter MullerAbstract:Task-specific Focal Dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. The condition is most frequent in musicians. Until today, the aetiology of Focal hand Dystonia is not completely understood, but there is growing evidence for an abnormal cortical processing of sensory information, as well as degraded representation of motor functions. It was demonstrated that in the somatosensory cortex the topographical location of sensory inputs from individual fingers is corrupted. Occasionally, a change in sensory information of the hand may at least temporarily improve the condition. This phenomenon is called sensory trick. In this paper, we propose a model of encoding of sensory stimuli which could explain the task specificity of cortical representations of the fingers or other effectors in the context of Dystonia. In the framework of this model a sensory stimulus is encoded as a signal vector of higher dimension. A part of its components directly represents the sensory stimulus, while the remaining components describe the context. This model does not only account for the task specificity, but may also explain some characteristics of the retraining process in this disorder.
Kristina Simonyan - One of the best experts on this subject based on the ideXlab platform.
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the large scale structural connectome of task specific Focal Dystonia
Human Brain Mapping, 2020Co-Authors: Kristina Simonyan, Sandra HanekampAbstract:The emerging view of Dystonia is that of a large-scale functional network disorder, in which the communication is disrupted between sensorimotor cortical areas, basal ganglia, thalamus, and cerebellum. The structural underpinnings of functional alterations in Dystonia are, however, poorly understood. Notably, it is unclear whether structural changes form a larger-scale dystonic network or rather remain Focal to isolated brain regions, merely underlying their functional abnormalities. Using diffusion-weighted imaging and graph theoretical analysis, we examined inter-regional white matter connectivity of the whole-brain structural network in two different forms of task-specific Focal Dystonia, writer's cramp and laryngeal Dystonia, compared to healthy individuals. We show that, in addition to profoundly altered functional network in Focal Dystonia, its structural connectome is characterized by large-scale aberrations due to abnormal transfer of prefrontal and parietal nodes between neural communities and the reorganization of normal hub architecture, commonly involving the insula and superior frontal gyrus in patients compared to controls. Other prominent common changes involved the basal ganglia, parietal and cingulate cortical regions, whereas premotor and occipital abnormalities distinctly characterized the two forms of Dystonia. We propose a revised pathophysiological model of Focal Dystonia as a disorder of both functional and structural connectomes, where Dystonia form-specific abnormalities underlie the divergent mechanisms in the development of distinct clinical symptomatology. These findings may guide the development of novel therapeutic strategies directed at targeted neuromodulation of pathophysiological brain regions for the restoration of their structural and functional connectivity.
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top down alteration of functional connectivity within the sensorimotor network in Focal Dystonia
Neurology, 2019Co-Authors: Giovanni Battistella, Kristina SimonyanAbstract:Objectives To determine the directionality of regional interactions and influences of one region on another within the functionally abnormal sensorimotor network in isolated Focal Dystonia. Methods A total of 40 patients with spasmodic dysphonia with and without dystonic tremor of voice and 35 healthy controls participated in the study. Independent component analysis (ICA) of resting-state fMRI was used to identify 4 abnormally coupled brain regions within the functional sensorimotor network in all patients compared to controls. Follow-up spectral dynamic causal modeling (DCM) estimated regional effective connectivity between patients and controls and between patients with spasmodic dysphonia with and without dystonic tremor of voice to expand the understanding of symptomatologic variability associated with this disorder. Results ICA found abnormally reduced functional connectivity of the left inferior parietal cortex, putamen, and bilateral premotor cortex in all patients compared to controls, pointing to a largely overlapping pathophysiology of Focal Dystonia and dystonic tremor. DCM determined that the disruption of the sensorimotor network was both top-down, involving hyperexcitable parieto-putaminal influence, and interhemispheric, involving right-to-left hyperexcitable premotor coupling in all patients compared to controls. These regional alterations were associated with their abnormal self-inhibitory function when comparing patients with spasmodic dysphonia patients with and without dystonic tremor of voice. Conclusions Abnormal hyperexcitability of premotor-parietal-putaminal circuitry may be explained by altered information transfer between these regions due to underlying deficient connectivity. Identification of brain regions involved in processing of sensorimotor information in preparation for movement execution suggests that complex network disruption is staged well before the dystonic behavior is produced by the primary motor cortex.
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the direct basal ganglia pathway is hyperfunctional in Focal Dystonia
Brain, 2017Co-Authors: Kristina Simonyan, Azadeh Hamzehei Sichani, Hyun Jin Cho, Estee Rubienthomas, Mark HallettAbstract:See Fujita and Eidelberg (doi:10.1093/brain/awx305) for a scientific commentary on this article. Focal Dystonias are the most common type of isolated Dystonia. Although their causative pathophysiology remains unclear, it is thought to involve abnormal functioning of the basal ganglia-thalamo-cortical circuitry. We used high-resolution research tomography with the radioligand 11C-NNC-112 to examine striatal dopamine D1 receptor function in two independent groups of patients, writer’s cramp and laryngeal Dystonia, compared to healthy controls. We found that availability of dopamine D1 receptors was significantly increased in bilateral putamen by 19.6–22.5% in writer’s cramp and in right putamen and caudate nucleus by 24.6–26.8% in laryngeal Dystonia (all P ≤ 0.009). This suggests hyperactivity of the direct basal ganglia pathway in Focal Dystonia. Our findings paralleled abnormally decreased dopaminergic function via the indirect basal ganglia pathway and decreased symptom-induced phasic striatal dopamine release in writer’s cramp and laryngeal Dystonia. When examining topological distribution of dopamine D1 and D2 receptor abnormalities in these forms of Dystonia, we found abnormal separation of direct and indirect pathways within the striatum, with negligible, if any, overlap between the two pathways and with the regions of phasic dopamine release. However, despite topological disorganization of dopaminergic function, alterations of dopamine D1 and D2 receptors were somatotopically localized within the striatal hand and larynx representations in writer’s cramp and laryngeal Dystonia, respectively. This finding points to their direct relevance to disorder-characteristic clinical features. Increased D1 receptor availability showed significant negative correlations with Dystonia duration but not its severity, likely representing a developmental endophenotype of this disorder. In conclusion, a comprehensive pathophysiological mechanism of abnormal basal ganglia function in Focal Dystonia is built upon upregulated dopamine D1 receptors that abnormally increase excitation of the direct pathway, downregulated dopamine D2 receptors that abnormally decrease inhibition within the indirect pathway, and weakened nigro-striatal phasic dopamine release during symptomatic task performance. Collectively, these aberrations of striatal dopaminergic function underlie imbalance between direct and indirect basal ganglia pathways and lead to abnormal thalamo-motor-cortical hyperexcitability in Dystonia.
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isolated Focal Dystonia as a disorder of large scale functional networks
Cerebral Cortex, 2015Co-Authors: Giovanni Battistella, Pichet Termsarasab, Ritesh A Ramdhani, Stefan Fuertinger, Kristina SimonyanAbstract:Isolated Focal Dystonias are a group of disorders with diverse symptomatology but unknown pathophysiology. Although recent neuroimaging studies demonstrated regional changes in brain connectivity, it remains unclear whether Focal Dystonia may be considered a disorder of abnormal networks. We examined topology as well as the global and local features of large-scale functional brain networks across different forms of isolated Focal Dystonia, including patients with task-specific (TSD) and nontask-specific (NTSD) Dystonias. Compared with healthy participants, all patients showed altered network architecture characterized by abnormal expansion or shrinkage of neural communities, such as breakdown of basal ganglia-cerebellar community, loss of a pivotal region of information transfer (hub) in the premotor cortex, and pronounced connectivity reduction within the sensorimotor and frontoparietal regions. TSD were further characterized by significant connectivity changes in the primary sensorimotor and inferior parietal cortices and abnormal hub formation in insula and superior temporal cortex, whereas NTSD exhibited abnormal strength and number of regional connections. We suggest that isolated Focal Dystonias likely represent a disorder of large-scale functional networks, where abnormal regional interactions contribute to network-wide functional alterations and may underline the pathophysiology of isolated Focal Dystonia. Distinct symptomatology in TSD and NTSD may be linked to disorder-specific network aberrations.
Hans-christian Jabusch - One of the best experts on this subject based on the ideXlab platform.
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Focal Dystonia in musicians: An acquired musical disorder?
2015Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Performing music at a professional level requires the integration of multimodal sensory and motor information and precise monitoring of the performance via auditory feedback. In the context of western classical music, musicians are forced to reproduce highly controlled movements almost perfectly with a high reliability. These specialized sensory-motor skills are acquired during extensive training periods over many years, starting in early infancy and passing through stages of increasing physical and strategic complexities. The superior skills of musicians are mirrored in plastic adaptations of the brain on different time scales (for a review, see: Münte et al. 2002). There is a dark side to the increasing specialisation and prolonged training of modern musicians, namely loss of control and degradation of skilled hand movements, a disorder referred to as musicians’ cramp or Focal Dystonia. In our musicians ’ clinic, we have seen 360 professional musicians with Focal Dystonia during the last 10 years. The disorder presents as painless muscular incoordination or loss of voluntary motor control of highly trained movements while playing the instrument. According to new research data, Focal Dystonia may be caused by training induced cortical dysplasticity with pathological fusion of somatosensory representations in sensory or motor cortical regions. Considering 1) the historical advent of the disorder in the nineteenth century with rapidly increasing technical demands imposed on musicians, 2) the epidemiological data with repetitive and spatiotemporally precise physical activity as a risk factor, and 3) neurobiological findings of the blurring of somato-sensory representations, one is tempted to state that Focal Dystonia fi-nally marks the natural limits of a process of refinement of manual dexterity over a million years. However, a hereditary component seems to play a role, since according to a presently conducted neurogenetical study in more than 15 % of our patients, (non- musician) members of the family are afflicted with other forms of Focal Dystonia
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Focal Dystonia in musicians phenomenology pathophysiology and triggering factors
European Journal of Neurology, 2010Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Background: Musician’s Dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately, 1% of all professional musicians are affected. The pathophysiology of the disorder is still unclear. Findings include: (i) reduced inhibition in different levels of the central nervous system, (ii) maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia and (iii) alterations in sensorimotor processing. Methods: Review of the literature. Results: Epidemiological data demonstrated a higher risk for those musicians who play instruments requiring maximal fine-motor skills. For instruments where workload differs across hands, Focal Dystonia appears more often in the more intensely used hand. In psychological studies, musicians with Dystonia had more perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioural factors may be involved in the etiology of musician’s Dystonia. Hereditary factors may play a greater role than previously assumed. Conclusions: We propose a heuristic model that may explain the relatively high incidence of Focal Dystonia in musicians. This model assumes the coactions between a predominantly genetically determined predisposition and intrinsic and extrinsic triggering factors.
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Focal Dystonia in musicians phenomenology pathophysiology triggering factors and treatment
Medical Problems of Performing Artists, 2010Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Musician’s Dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1% of all professional musicians develop musician’s Dystonia, and in many cases, the disorder terminates the careers of affected musicians. The pathophysiology of the disorder is not completely clarified. Findings include 1) reduced inhibition at different levels of the central nervous system, 2) maladaptive plasticity and altered sensory perception, and 3) alterations in sensorimotor integration. Epidemiological data demonstrate a higher risk for those musicians who play instruments requiring maximal fine-motor skills. For instruments where workload differs across hands, Focal Dystonia appears more often in the more intensely used hand. In psychological studies, musicians with Dystonia have more anxiety and perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioral factors may be involved in the etiology of musician’s Dystonia. Preliminary findings also suggest a genetic contribution to Focal task-specific Dystonia with phenotypic variations including musician’s Dystonia. Treatment options include pharmacological interventions, such as trihexyphenidyl or botulinum toxin-A, as well as retraining programs and ergonomic changes in the instrument. Patient-tailored treatment strategies may significantly improve the situation of musicians with Focal Dystonia. Positive results after retraining and unmonitored technical exercises underline the benefit of an active involvement of patients in the treatment process. Only a minority of musicians, however, return to normal motor control using the currently available therapies. Med Probl Perform Art 2010; 25:3–9.
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Focal Dystonia in musicians phenomenology pathophysiology triggering factors and treatment
Medical Problems of Performing Artists, 2010Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Musician's Dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1% of all professional musicians develop musician's Dystonia, and in many cases, the disorder terminates the careers of affected musicians. The pathophysiology of the disorder is not completely clarified. Findings include 1) reduced inhibition at different levels of the central nervous system, 2) maladaptive plasticity and altered sensory perception, and 3) alterations in sensorimotor integration. Epidemiological data demonstrate a higher risk for those musicians who play instruments requiring maximal fine-motor skills. For instruments where workload differs across hands, Focal Dystonia appears more often in the more intensely used hand. In psychological studies, musicians with Dystonia have more anxiety and perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioral factors may be involved in the etiology of musician's Dystonia. Preliminary findings also suggest a genetic contribution to Focal task-specific Dystonia with phenotypic variations including musician's Dystonia. Treatment options include pharmacological interventions, such as trihexyphenidyl or botulinum toxin-A, as well as retraining programs and ergonomic changes in the instrument. Patient-tailored treatment strategies may significantly improve the situation of musicians with Focal Dystonia. Positive results after retraining and unmonitored technical exercises underline the benefit of an active involvement of patients in the treatment process. Only a minority of musicians, however, return to normal motor control using the currently available therapies.
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Focal Dystonia in musicians an acquired musical disorder
2006Co-Authors: Eckart Altenmüller, Hans-christian JabuschAbstract:Performing music at a professional level requires the integration of multimodal sensory and motor information and precise monitoring of the performance via auditory feedback. In the context of western classical music, musicians are forced to reproduce highly controlled movements almost perfectly with a high reliability. These specialized sensory-motor skills are acquired during extensive training periods over many years, starting in early infancy and passing through stages of increasing physical and strategic complexities. The superior skills of musicians are mirrored in plastic adaptations of the brain on different time scales (for a review, see: Munte et al. 2002). There is a dark side to the increasing specialisation and prolonged training of modern musicians, namely loss of control and degradation of skilled hand movements, a disorder referred to as musicians’ cramp or Focal Dystonia. In our musicians’ clinic, we have seen 360 professional musicians with Focal Dystonia during the last 10 years. The disorder presents as painless muscular incoordination or loss of voluntary motor control of highly trained movements while playing the instrument. According to new research data, Focal Dystonia may be caused by training induced cortical dysplasticity with pathological fusion of somatosensory representations in sensory or motor cortical regions. Considering 1) the historical advent of the disorder in the nineteenth century with rapidly increasing technical demands imposed on musicians, 2) the epidemiological data with repetitive and spatiotemporally precise physical activity as a risk factor, and 3) neurobiological findings of the blurring of somato-sensory representations, one is tempted to state that Focal Dystonia finally marks the natural limits of a process of refinement of manual dexterity over a million years. However, a hereditary component seems to play a role, since according to a presently conducted neurogenetical study in more than 15% of our patients, (non- musician) members of the family are afflicted with other forms of Focal Dystonia. References Munte TF, Altenmuller E, Jancke L. The musician’s brain as a model of neuroplasticity. Nature Reviews Neuroscience, 3, 473-478 (2002)
Giovanni Abbruzzese - One of the best experts on this subject based on the ideXlab platform.
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Focal Dystonia in musicians linking motor symptoms to somatosensory dysfunction
Frontiers in Human Neuroscience, 2013Co-Authors: Juergen Konczak, Giovanni AbbruzzeseAbstract:Musician’s Dystonia (MD) is a neurological motor disorder characterized by involuntary contractions of those muscles involved in the play of a musical instrument. It is task-specific and initially only impairs the voluntary control of highly practiced musical motor skills. MD can lead to a severe decrement in a musician’s ability to perform. While the etiology and the neurological pathomechanism of the disease remain unknown, it is known that MD like others forms of Focal Dystonia is associated with somatosensory deficits, specifically a decreased precision of tactile and proprioceptive perception. The sensory component of the disease becomes also evident by the patients’ use “sensory tricks” such as touching dystonic muscles to alleviate motor symptoms. The central premise of this paper is that the motor symptoms of MD have a somatosensory origin and are not fully explained as a problem of motor execution. We outline how altered proprioceptive feedback ultimately leads to a loss of voluntary motor control and propose two scenarios that explain why sensory tricks are effective. Sensory tricks are effective, because the sensorimotor system either recruits neural resources normally involved in tactile-proprioceptive (sensory) integration, or utilizes a fully functioning motor efference copy mechanism to align experienced with expected sensory feedback. We argue that an enhanced understanding of how a primary sensory deficit interacts with mechanisms of sensorimotor integration in musician’s Dystonia provides helpful insights for the design of more effective behavioral therapies.
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quality of sleep in primary Focal Dystonia a case control study
European Journal of Neurology, 2010Co-Authors: Laura Avanzino, Giovanni Defazio, Davide Martino, Roberta Marchese, Maria Stella Aniello, Brigida Minafra, M Superbo, Giovanni AbbruzzeseAbstract:Background: Sleep disturbances are common in patients with movement disorders. Evaluating quality of sleep is of primary importance because of the effect that nocturnal and daytime sleep abnormalities exert on general health status. However, quality of sleep has never been addressed in detail in patients with Dystonia. The aim of this case–control study was to analyse quality of sleep in patients with the two most common forms of primary Focal Dystonia, blepharospasm (BSP) and cervical Dystonia (CD). Methods: We evaluated quality of sleep (Pittsburgh Sleep Quality Index, PSQI) and excessive daytime sleepiness (Epworth Sleepiness Scale, ESS) in 98 patients with Focal adult-onset Dystonia (52 with BSP; 46 with CD) and in a group of 56 age-and gendermatched healthy subjects. The Beck Depression Inventory (BDI) was used for the evaluation of depressive symptomatology. Results: Quality of sleep was impaired (significantly higher PSQI scores) in both groups of patients. However, differences in PSQI scores between patients with CD and control subjects were partly confounded by BDI scores, whereas differences in PSQI scores between patients with BSP and control subjects were not influenced by BDI. Excessive daytime sleepiness was not significantly more frequent than in control subjects in either patients with BSP or patients with CD. Conclusions: This study suggests that the assessment and treatment of insomniarelated complaints should be considered in global management plans of patients with Focal Dystonia, particularly in those affected by BSP.
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long term assessment of the risk of spread in primary late onset Focal Dystonia
Journal of Neurology Neurosurgery and Psychiatry, 2008Co-Authors: Giovanni Abbruzzese, Laura Avanzino, Alfredo Berardelli, Davide Martino, Roberta Marchese, P Girlanda, Francesca Morgante, Carlo Colosimo, Giovanni DefazioAbstract:Background: Primary late-onset Focal Dystonias may spread over time to adjacent body regions, but differences in the risk of spread over time among the various Focal forms and the influence of age at Dystonia onset on the risk of spread are not well established. Methods: Patients presenting with primary late-onset Focal blepharospasm (BSP, n = 124), cervical Dystonia (CD, n = 73) and Focal hand Dystonia (FHD, n = 24) with 10 years or more of disease duration (mean ± SD, 15.3 (SD 4.9) years) were included in the study. The relationship between demographic/clinical variables and spread of Dystonia was assessed by Kaplan–Meier survival curves and Cox proportional hazard regression models. Results: Patients starting with BSP, CD and FHD had similar age, sex and disease duration. Age at Dystonia onset, age at initial spread and the risk of initial spread were significantly higher, whereas time elapsing from onset to initial spread was significantly lower in the BSP group than in those with onset in the neck or in the upper extremities. Conversely, these parameters were similar in the CD and FHD groups. The greater risk of spread in the BSP group was mainly evident in the first 5 years of history; thereafter, it declined and became similar to that of patients with CD/FHD. The difference in the risk of initial spread by site of onset was partly confounded by age at Dystonia onset. Site of and age at Dystonia onset, and age at first spread, were not significant predictors of the risk of a second spread. Conclusion: This study adds new insights into the phenomenon of spread of primary late-onset Focal Dystonia and provides the framework for future studies aimed at an indepth investigation of the mechanism(s) of spread.
Brian Berman - One of the best experts on this subject based on the ideXlab platform.
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risk of spread in adult onset isolated Focal Dystonia a prospective international cohort study
Journal of Neurology Neurosurgery and Psychiatry, 2020Co-Authors: Brian Berman, Scott A Norris, Johanna Junker, Stefan Sillau, Christopher Groth, Sarah Pirio Richardson, Norbert Bruggemann, Pinky Agarwal, Richard L Barbano, Alberto J EspayAbstract:Objective Isolated Focal Dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner. Furthermore, body regions at risk for spread and the clinical factors associated with spread risk are not well characterised. We sought here to prospectively characterise risk of spread in recently diagnosed adult-onset isolated Focal Dystonia patients. Methods Patients enrolled in the Dystonia Coalition with isolated Dystonia affecting only the neck, upper face, hand or larynx at onset of symptoms were included. Timing of follow-up visits was based on a sliding scale depending on symptom onset and ranged from 1 to 4 years. Descriptive statistics, Kaplan-Meier survival curves and Cox proportional hazard regression models were used to assess clinical characteristics associated with Dystonia spread. Results 487 enrolled participants (68.3% women; mean age: 55.6±12.2 years) met our inclusion/exclusion criteria. Spread was observed in 50% of blepharospasm, 8% of cervical Dystonia, 17% of hand Dystonia and 16% of laryngeal Dystonia cases. Most common regions for first spread were the oromandibular region (42.2%) and neck (22.4%) for blepharospasm, hand (3.5%) for cervical Dystonia and neck for hand (12.8%) and laryngeal (15.8%) Dystonia. Increased spread risk was associated with a positive family history (HR=2.18, p=0.012) and self-reported alcohol responsiveness (HR=2.59, p=0.009). Conclusions Initial body region affected in isolated Focal Dystonia has differential risk and patterns of spread. Genetic factors likely influence the risk of spread. These findings can aid clinical prognostication and inform future investigations into potential disease-modifying treatments.
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Isolated Focal Dystonia phenotypes are associated with distinct patterns of altered microstructure.
NeuroImage. Clinical, 2018Co-Authors: Brian Berman, Stefan Sillau, Justin M. Honce, Erica Shelton, Lidia NagaeAbstract:Abstract Objective Isolated adult-onset Focal Dystonia is considered a network disorder with disturbances to the motor basal ganglia and cerebellar circuits playing a pathophysiological role, but why specific body regions become affected remains unknown. We aimed to use diffusion tensor imaging to determine if the two most common phenotypes of Focal Dystonia are associated with distinguishing microstructural changes affecting the motor network. Methods Fifteen blepharospasm patients, 20 cervical Dystonia patients, and 30 age- and sex-matched healthy controls were recruited. Maps of fractional anisotropy and mean diffusivity were analyzed using a voxel-based approach and an automated region-of-interest technique to evaluate deep gray matter nuclei. Correlations between diffusion measures and Dystonia severity were tested, and post hoc discriminant analyses were conducted. Results Voxel-based analyses revealed significantly reduced fractional anisotropy in the right cerebellum and increased mean diffusivity in the left caudate of cervical Dystonia patients compared to controls, as well as lower fractional anisotropy in the right cerebellum in cervical Dystonia patients relative to blepharospasm patients. In addition to reduced fractional anisotropy in the bilateral caudate nucleus of cervical Dystonia patients relative to controls and blepharospasm patients, region-of-interest analyses revealed significantly reduced fractional anisotropy in the right globus pallidus internus and left red nucleus of blepharospasm patients compared to both controls and cervical Dystonia patients. Diffusivity measures in the red nucleus of blepharospasm patients correlated with disease severity. In a three-group discriminant analysis, participants were correctly classified with only modest reliability (67–75%), but in a two-group discriminant analysis, patients could be distinguished from each other with high reliability (83–100%). Conclusions Different Focal Dystonia phenotypes are associated with distinct patterns of altered microstructure within constituent regions of basal ganglia and cerebellar circuits.
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psychiatric associations of adult onset Focal Dystonia phenotypes
Journal of Neurology Neurosurgery and Psychiatry, 2017Co-Authors: Brian Berman, Joseph Jankovic, Joel S Perlmutter, Johanna Junker, Erika Shelton, Stefan Sillau, H A Jinnah, Alberto J Espay, Marie Vidailhet, Cecilia BonnetAbstract:Background Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset Focal Dystonias. Whether the body region affected when this type of Dystonia first presents is associated with the severity of these neuropsychiatric symptoms is unknown. Objectives The aim of this study was to determine whether depression, anxiety and social anxiety vary by Dystonia onset site and evaluate whether pain and Dystonia severity account for any differences. Methods Patients with isolated Focal Dystonia evaluated within 5 years from symptom onset, enrolled in the Natural History Project of the Dystonia Coalition, were included in the analysis. Individual onset sites were grouped into five body regions: cervical, laryngeal, limb, lower cranial and upper cranial. Neuropsychiatric symptoms were rated using the Beck Depression Inventory, Hospital Anxiety and Depression Scale and Liebowitz Social Anxiety Scale. Pain was estimated using the 36-Item Short Form Survey. Results Four hundred and seventy-eight subjects met our inclusion criteria. High levels of depression, anxiety and social anxiety occurred in all groups; however, the severity of anxiety and social anxiety symptoms varied by onset site group. The most pronounced differences were higher anxiety in cervical and laryngeal, lower anxiety in upper cranial and higher social anxiety in laryngeal. Increases in pain were associated with worse neuropsychiatric symptom scores within all groups. Higher anxiety and social anxiety in laryngeal and lower anxiety in upper cranial persisted after correcting for pain and Dystonia severity. Conclusion Anxiety and social anxiety severity vary by onset site of Focal Dystonia, and this variation is not explained by differences in pain and Dystonia severity.