Focal Dystonia and the Stress Network: The Role of Stress Vulnerability and Adverse Childhood Experiences in the Development of Musician's Dystonia.

Musician's dystonia is often described as a neurological disorder, resulting from reduced inhibition in the basal ganglia and the cerebellum and dysfunctional cortical plasticity. However, several studies over the last decades support the hypothesis that psychological factors play an important role in the aetiology of dystonia, contradicting its classification as "purely neurological". Especially adverse childhood experiences (ACEs) such as neglect, maltreatment, or household dysfunction may influence the sensorimotor system, additionally to the impact they have on psychological traits. They are known to alter limbic networks, such as the amygdala, the hippocampus, and the stress response via the hypothalamus-pituitary-adrenal (HPA) axis and might also affect the cortico-striatal-thalamo-cortical loop that is vital for correct motor movement learning. Especially a higher activity of the basolateral amygdala could be important by increasing the consolidation of dysfunctional motor memories in stressful situations.Therefore, this chapter explores how musician's dystonia might be a result of dysfunctional stress-coping mechanisms, additionally to the already established neurological alterations.

Comprehensive analysis of non-motor symptoms and their association with quality of life in Writer's cramp.

OBJECTIVE: Limited studies have focused on non-motor symptoms (NMS) in patients with Writer's cramp (WC). The current study aimed to examine the frequency of NMS and their association with health-related quality of life (HR-QoL) in patients with WC. METHODS: A total of 80 patients with WC and 69 healthy controls (HCs) were enrolled. Motor symptoms was assessed by Burke-Fahn-Marsden dystonia rating scale and NMS was evaluated through several specific scales, including Hamilton depression rating scale-24 items (HDRS-24), Hamilton anxiety rating scale, Epworth sleepiness scale, Pittsburgh sleep quality index, fatigue severity scale (FSS), numerical rating scale for pain, and Montreal cognitive assessment. The HR-QoL was assessed using 36-item short form health survey (SF-36), which can be divided into physical component summary (PCS) and mental component summary (MCS). Multiple linear regression was used to analysis the association between each NMS and HR-QoL. RESULTS: The patients presented more symptoms of depression, anxiety, poor quality of sleep, excessive daytime sleepiness, and fatigue than the HCs. The most frequent NMS in patients with WC was anxiety (51.25%) and depression (46.25%) symptoms. We found that motor symptoms had no association with HR-QoL. Higher scores of HDRS-24 were associated with lower scores of SF-36 in PCS and MCS. Meantime, higher scores of FSS were significantly associated with lower scores of SF-36 in MCS. CONCLUSION: The NMS was prevalent in patients with WC, with frequent anxiety and depression symptoms. Depression symptoms and fatigue had a strongly negative impact on HR-QoL and deserve attention in clinic practice.

Perception of yips among professional Japanese golfers: perspectives from a network modelled approach.

'Yips' in golf is a complex spectrum of anxiety and movement-disorder that affects competitive sporting performance. With unclear etiology and high prevalence documented in western literature, the perception and management of this psycho-neuromuscular problem among Japanese elite golfers is unknown. The objective of this study was to explore factors associated with yips, investigate the performance deficits and the strategies implemented to prevent yips. We surveyed approx. 1300 professional golfers on their golfing habits, anxiety and musculoskeletal problems, kinematic deficits, changes in training and their outcomes. Statistical procedures included multiple logistic regression and network analysis. 35% of the respondents had experienced yips in their career, their odds increasing proportionally to their golfing experience. Regardless of musculoskeletal symptoms, about 57% of all yips-golfers attributed their symptoms to psychological causes. Network analysis highlighted characteristic movement patterns, i.e. slowing, forceful or freezing of movement for putting, approach and teeing shots respectively. Golfers' self-administered strategies to relieve yips were mostly inconsequential. Within the limits of our self-reported survey, most golfers perceived yips as a psychological phenomenon despite evidence pointing to a movement-disorder. While self-administered interventions were satisfactory at best, it may be imperative to sensitize golfers from a movement-disorder standpoint for early management of the problem.

Cognition in children and young adults with myoclonus dystonia - A case control study.

INTRODUCTION: In adult patients with myoclonus dystonia (MD), cognitive deficits regarding information processing speed and executive functioning have been demonstrated, but it is unclear whether cognition is also affected in young MD patients. The present study investigates cognition in young MD patients and the role of an SGCE mutation. METHODS: In this case control study 20 young MD patients (9 children (5.75-12.58 years) and 11 adolescents/young adults (13.5-25.42 years)) were included and compared to an age-, IQ- and gender-matched healthy control group (n = 40). Within the patient group, we compared patients with (n = 12) and without (n = 8) an SGCE mutation (SGCE+/-). All participants completed neuropsychological tests for memory, attention/processing speed, executive functioning, social cognition and language. RESULTS: Overall, patients performed in the (low) average range, comparable to healthy controls. Only on a semantic fluency test, patients scored significantly lower. SGCE + patients had lower emotion recognition scores (a social cognition test) compared to SGCE-patients. CONCLUSION: We could not demonstrate cognitive deficits as found in adult MD patients in our younger group. Patients performed on the same level as healthy controls, with only a small difference in semantic fluency. We did not find executive deficits that were manifest in adult SGCE + patients, but we did find an association of an SGCE mutation and lower scores on a social cognition test. Similar to executive functioning, social cognition is a prefrontally regulated function, but had not been tested in adult MD. Hence, social cognition may precede executive problems in adulthood, suggesting growing into deficit.

Modulation of sensorimotor cortical oscillations in athletes with yips.

The yips, an involuntary movement impediment that affects performance in skilled athletes, is commonly described as a form of task-specific focal dystonia or as a disorder lying on a continuum with focal dystonia at one end (neurological) and chocking under pressure at the other (psychological). However, its etiology has been remained to be elucidated. In order to understand sensorimotor cortical activity associated with this movement disorder, we examined electroencephalographic oscillations over the bilateral sensorimotor areas during a precision force task in athletes with yips, and compared them with age-, sex-, and years of experience-matched controls. Alpha-band event-related desynchronization (ERD), that occurs during movement execution, was greater in athlete with yips as compared to controls when increasing force output to match a target but not when adjusting the force at around the target. Event-related synchronization that occurs after movement termination was also greater in athletes with yips. There was no significant difference in task performance between groups. The enhanced ERD is suggested to be attributed to dysfunction of inhibitory system or increased allocation of attention to the body part used during the task. Our findings indicate that sensorimotor cortical oscillatory response is increased during movement initiation in athletes with yips.

Non-Motor Manifestations in Idiopathic Dystonia with Focal Onset - A Pilot Study.

Recent studies emphasize an increased prevalence of non-motor symptoms in idiopathic dystonia with focal onset (IDFO), but their pathophysiological relationship is not clear. We aimed to identify the prevalence of depression and neurocognitive impairment in a group of patients with idiopathic dystonia with focal onset and their impact on the patients' quality of life. This study represents a component of an ongoing research project - GENDYS. From the database of this project, we selected 48 patients 56.62+/-14.16 years old who have been examined clinically and using specific scales: Patient Health Questionnaire-9 (for depression), Montreal Cognitive Assessment - MoCA (for cognitive impairment), and a 5-degree analog scale for subjective perception of the severity of the disease. We conducted a descriptive cross-sectional study on patients with depression and cognition evaluated by the above-mentioned scales. We also performed a nested case-control analysis on 20 IDFO patients with and without at least moderate depression matched for age and gender; the cut-offs for depression were PHQ-9 score ≥10 and PHQ9 <5, for the depression group and the control group, respectively. The cut-off for MoCA was 26 points. 22 IDFO patients (46%) had depression; 54.5% of IDFO patients with depression had cognitive impairment, indicating a slight trend of increased cognitive impairment in those with depression compared to those without; the perception of the severity of disease was the greatest in patients with depression. Depression is more prevalent in patients with IDFO and is associated with a worse perception of the disease severity.

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.

OBJECTIVES: Non-motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on health-related quality of life (HRQoL). However, the prevalence of NMS and their association with dystonia are still unclear. The aim of our study was to assess the prevalence of depression, anxiety, fatigue, apathy, pain, sleep problems, and excessive daytime sleepiness (EDS) in CD using different evaluation approaches and to explore their association with HRQoL relative to that of motor symptoms. MATERIALS AND METHODS: We enrolled 102 Slovak patients with CD. The severity of both motor and non-motor symptoms was assessed using validated scales. HRQoL was determined by the 36-item Short Form Health Survey (SF-36). Association of NMS with poor HRQoL was assessed using multiple regressions. RESULTS: The most frequent NMS in our sample were sleep impairment (67.3%), anxiety (65.5%), general and physical fatigue (57.5% and 52.9%, respectively), depression (47.1%), mental fatigue (31.4%), apathy (30.4%), reduced activity (29.4%), EDS (20.2%), and reduced motivation (18.6%). Univariate analysis showed that NMS, but not motor symptoms, were significantly linked to poor HRQoL, with EDS being most commonly associated with poor HRQoL, followed by disrupted sleep, depression, and fatigue. CONCLUSIONS: The prevalence of NMS among patients with CD is high, and some NMS are strongly associated with poor HRQoL, while motor impairment was not associated with the severity of NMS or poor HRQoL. Actively diagnosing and treating NMS should therefore be a routine part of the clinical management of patients with CD.

Fixed-Life or Rechargeable Battery for Deep Brain Stimulation: A Prospective Long-Term Study of Patient's Preferences.

INTRODUCTION: Deep brain stimulation (DBS) is an established treatment for movement disorders. We have previously shown that in our practice, the majority of adult patients prefer fixed-life implantable pulse generators (IPGs), although rechargeable batteries are increasingly used. The aim of this study was to evaluate patients' long-term satisfaction with their choice of battery and factors that influence their decision. METHODS: Thirty patients with DBS were given a questionnaire to assess long-term satisfaction and experience with the type of battery they had chosen. RESULTS: Twenty-six patients completed the survey. The mean age was 67.7 ± 7.3 years, and mean follow-up was 18.0 ± 7.2 months. The indications for DBS were Parkinson's disease (76.9%), tremor (11.5%) and dystonia (11.5%). Eleven patients (42.5%) had chosen the rechargeable battery. All patients were still happy with their choices and would not change the type of battery if they had the chance to do so. However, in patients who chose the fixed-life battery, concern about the size of battery rose from 6.7% pre-operatively to 60% on long-term post-operative follow-up. In patients who chose the rechargeable battery, concern about the need to recharge the battery did not change, remaining low postoperatively. Interestingly, even though the main reason cited for choosing the fixed-life battery was the convenience and concern about forgetting to recharge the battery, patients who had chosen a rechargeable IPG did not experience this problem. CONCLUSION: Patients and caregivers should be involved in the choice of battery, as each type of IPG has its own advantages and disadvantages. Long-term evaluation of patient's experience and satisfaction with battery of choice revealed that size of the IPG, need for further replacement surgeries and need for recharging remain matters of major concern. Although preoperatively often underestimated, the size of the battery seems to be an important factor in long-term satisfaction.

An examination of the neurocognitive profile and base rate of performance impairment in primary dystonia.

BACKGROUND: Primary dystonia has been traditionally viewed as a motor disorder. However, non-motor symptoms are frequently present and significantly quality of life. Neuropsychiatric and cognitive symptoms have been identified, but prior studies have been limited in sample size and lack of control groups. This study examined the neurocognitive profile of a sample of persons with primary dystonia (PWD) as compared to demographically matched healthy control group. METHODS: A cognitive test battery was administered to 25 PWD who presented for pre-surgical candidacy evaluation for deep brain stimulation surgery. The test battery domains included global cognitive function, attention, expressive language, visuospatial skills, memory, and executive functioning. Twenty-five age, gender, education-matched healthy control participants were compared to the PWD. RESULTS: Compared to demographically matched healthy controls, PWD performed worse on measures of global cognitive function, attention, memory, and conceptualization. Based on normative comparison, a large portion of PWD were impaired on tasks of executive functioning and expressive language. Over 80% of the PWD showed impairment on at least one neurocognitive measure and over 60% showed impairment on 3 or more tests. CONCLUSIONS: Neurocognitive deficits were prevalent among our PWD sample. These impairments were present across a broad range of cognitive domains. Given the degree of cognitive impairment found in this study, our results have implications for health care providers with providing interventions to PWD.

Internal Versus External Frame of Reference in Functional Movement Disorders.

OBJECTIVE: The purpose of this study was to determine whether patients with functional movement disorders (FMDs) differ in their internal versus external locus of control (LOC) and whether LOC in these patients affected disease severity, quality of life, and functional impairment compared with control subjects with degenerative (Parkinson's disease) and nondegenerative (focal dystonia) neurological conditions. METHODS: A total of 156 patients with FMD (N=45), Parkinson's disease (N=64), and focal dystonia (N=47) were recruited between June 2015 and August 2017. The authors administered the general Levenson Multidimensional LOC (LOC-G) and health-specific Multidimensional Health LOC (LOC-H) scales. An internal LOC was represented similarly in both scales: the external LOC included "chance" and "powerful others" in the LOC-G measure and chance, "other people," and "doctors" in the LOC-H measure. Quality of life, functional impairment, and FMD severity were assessed. One-way analysis of variance and adjusted logistic regressions were used, as well as ordinary least-squares between and within groups, respectively. RESULTS: Patients with FMD had lower external chance LOC-G scores compared with patients in the Parkinson's disease group (odds ratio=0.90, p=0.03) and higher internal (odds ratio=1.22, p=0.01) and lower external (odds ratio=0.77, p=0.02) doctors LOC-H scores compared with patients in the focal dystonia group. External powerful others LOC-G score was associated with functional impairment (regression coefficient=-0.04, p=0.02). There were no effects of LOC on quality of life or disease severity. CONCLUSIONS: Patients with FMD exhibited high "within our control" internal general and health-specific frame of reference. LOC had no influence on quality of life or disease severity in this patient population.

Caregiver burden and health-related quality of life in idiopathic dystonia patients under botulinum toxin treatment: a cross-sectional study.

Dystonia is a chronic movement disorder that is associated with a reduction in health-related quality of life (HR-QoL) and restriction of activities of daily living. Botulinum neurotoxin (BT) improves disease-specific HR-QoL by reducing abnormal movements, postures, and pain. We examined the burden of the corresponding primary caregiver as a potential important factor for disease management and HR-QoL of dystonia patients under treatment with BT. 114 patients with focal, segmental, or generalized dystonia were recruited, together with 93 corresponding caregivers, whose burden was investigated using the Caregiver Burden Inventory. In addition, all participants were assessed for cognitive impairment, depression, anxiety, alexithymia, and HR-QoL. Only a small proportion of caregivers suffered from caregiver burden. Despite BT therapy, patients' HR-QoL was decreased compared to the age-matched general German population. Psychological symptoms, notably anxiety, and depression correlated significantly with reduced HR-QoL. Our data imply that caregiver burden emerged to be an issue in subgroups of dystonia patients. Furthermore, HR-QoL of dystonia patients is reduced even under optimized BT treatment in a specialized center.

[Personality traits of Japanese patients with focal dystonia-Variable classification by affected body part and occupation].

We administered the Revised Neo Personality Inventory (NEO-PI-R) to 92 Japanese patients with focal dystonia and analyzed the relation of their personality traits, affected body parts, and occupations using a decision tree method. Results show that participants' personality traits were related to their occupation rather than the body part. Occupational dystonia patients including musicians exhibited neurotic tendencies and a high level of anxiety. Moreover, patients with occupational upper limb dystonia had realistic thinking patterns. Patients with musicians' dystonia were open about their emotional experiences: both positive and negative.

How different aspects of motor dysfunction influence day-to-day function in huntington's disease.

PURPOSE: This study examined the relationships between different aspects of motor dysfunction (chorea, dystonia, rigidity, incoordination, oculomotor dysfunction, dysarthria, and gait difficulties) and functional status in persons with Huntington's disease. METHODS: A total of 527 persons with Huntington's disease completed the Unified Huntington's Disease Rating Scale motor, total functional capacity, and functional assessments. RESULTS: Confirmatory factor analysis indicated that a 4-factor model provided a better model fit than the existing 5-factor model. Exploratory factor analysis identified the following 4 factors from the motor scale: dystonia, chorea, rigidity, and a general motor factor. Regression indicated that dystonia (ß = -0.47 and -0.79) and rigidity (ß = -0.28 and -0.59) had strong associations with function, whereas chorea had modest correlations (ß = -0.16 and -0.15). CONCLUSIONS: Dystonia and rigidity have stronger relationships with functional status than chorea in persons with Huntington's disease. The findings underscore the need for further research regarding the effects of dystonia and rigidity on functioning. © 2019 International Parkinson and Movement Disorder Society.

Effect of constant-current pallidal deep brain stimulation for primary dystonia on cognition, mood and quality of life: Results from a prospective pilot trial.

OBJECTIVE: Knowledge on the effects of DBS on cognitive functions is limited and no data exists on the effects of constant-current DBS (CC-GPi-DBS), which appears to prevail over constant-voltage stimulation. Our aim was to prospectively assess the effect of Constant-Current-GPi-DBS, using an 8-contact lead, on cognition, mood and quality of life. PATIENTS AND METHODS: Ten patients aged 27-49 underwent prospective neuropsychological assessment using dedicated tests. Various cognitive domains (intelligence, executive functions, memory, attention, visuo-spatial perception, verbal intelligence) as well as emotional state and quality of life were examined preoperatively and 1, 6 and 12 months after continuous constant-current DBS. RESULTS: Patients performed preoperatively below average on information processing speed, phonemic verbal fluency and working memory. At 6-months there was an improvement in phonemic verbal fluency (p < .05), which was retained at 12-months postoperatively (p = .05). Results also showed marginal improvement in the Trail Making-A test (p = .051) and the Stroop colour-word test (p < .05). Despite improvement in Quality of Life (Physical and Mental Component improved by 32.42% and 29.46% respectively), patients showed no discernible change in anxiety and depression status. CONCLUSIONS: CC-GPi-DBS for primary dystonia has no discernible negative impact on cognition and mood. If anything, we noted an improvement of certain cognitive functions.

The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia.

Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. All subjects completed the following questionnaires: Beck Depression Inventory, Beck Anxiety Inventory, Social Phobia Inventory, Apathy Scale, Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Brief Pain Scale, and the World Health Organization Quality of Life brief scale. Results: The patients presented more symptoms of depression, anxiety, and apathy than the control subjects. They also reported worse quality of sleep and more pain complaints. Patients with blepharospasm were the most symptomatic subgroup. The patients had worse quality of life, and the presence of pain and symptoms of apathy and depression were the main influences for these findings, but not the severity of motor symptoms. Discussion: Patients with dystonia, especially those with blepharospasm, showed higher prevalence of symptoms of depression, anxiety, apathy, worse quality of sleep, and pain. These symptoms had a negative impact on their quality of life.

Quality of life in idiopathic dystonia: a systematic review.

OBJECTIVE: Dystonia is characterised by sustained muscular contractions frequently producing repetitive, twisting and patterned movements. The primary aim of this systematic review was to establish how quality of life (QoL) is affected in idiopathic focal, multifocal and segmental dystonia. This review aimed to evaluate variations in QoL between different subtypes of dystonia, identify the determinants of QoL and assess the effects of different treatments on QoL. METHODOLOGY: A systematic computer-based literature search was conducted using the PubMed database to search for papers on QoL in idiopathic focal, segmental, multifocal and generalized dystonia. We identified 75 studies meeting our inclusion criteria. Information was extracted regarding prevalence, demographics and response to treatment where indicated. RESULTS: This review revealed QoL to be a significant yet often overlooked issue in idiopathic dystonia. Data consistently showed that dystonia has a negative effect on QoL in patients compared to healthy controls, when measured using disease-specific and generic QoL measures. The majority of studies (n = 25) involved patients with cervical dystonia, followed by benign-essential blepharospasm (n = 10). Along with the beneficial effect to the dystonia symptoms, treatment using Botulinum Toxin and Deep Brain Stimulation is also effective in improving overall QoL across the majority of subtypes. CONCLUSION: The findings demonstrate that patients' QoL should routinely be assessed and monitored, as this may affect subsequent management. Further research will allow for more robust management of factors contributing to impaired QoL, aside from the physical defects found in dystonia.

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.

BACKGROUND: Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia. METHODS: Consecutive myoclonus-dystonia patients with ε-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external movement disorder specialist. Social adjustment, cognition, and mood were evaluated. RESULTS: Nine patients (5 women) with long-term GPi-DBS (8.7 ± 3.1 years) were included. There was significant improvement in the composite myoclonus score (94.1% ± 4% improvement; P = 0.008). Dystonia severity was also markedly improved (71.4% ± 28.33% improvement; P = 0.008) as well as motor disability (88.3% ± 20% improvement; P = 0.008) and abnormal involuntary movement score (71.1% ± 15.0% improvement; P = 0.008). No patients experienced postoperative speech or gait problems or any permanent adverse effects. Eight of the 9 patients had fully enhanced social adjustment and personal achievement, with little or no mood or behavioral disorders. CONCLUSIONS: GPi-DBS seems to be a safe and efficacious treatment for medically refractory ɛ-sarcoglycan myoclonus-dystonia, with sustained motor benefit, good quality of life, and social adjustment in long-term follow-up. © 2018 International Parkinson and Movement Disorder Society.

Psychodiagnostics: Classification of the Yips Phenomenon based on Musician's Dystonia.

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 subclassified 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 with those of musician's dystonia. CONCLUSIONS: 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.

Personality profiles are different in musician's dystonia and other isolated focal dystonias.

Psychological abnormalities have been reported in patients with musician's dystonia. To further differentiate these abnormalities, we evaluated personality traits in musician's dystonia and compared them to those in other isolated focal dystonias. Therefore patients with musician's dystonia (n = 101) and other isolated focal dystonias (n = 85) underwent the Neuroticism Extraversion Openness Five-Factor Inventory (NEO-FFI). Women with musician's dystonia had higher NEO-FFI neuroticism scores, and men significantly higher openness scores compared to women and men with other isolated focal dystonias, respectively. There were negative correlations in men with musician's dystonia between duration of dystonia and the NEO-FFI openness and extraversion scores and between age and extraversion scores. Women with other isolated focal dystonias showed correlations between age and agreeableness and conscientiousness scores. Patients with musician's dystonia are characterized by a specific personality profile with increased neuroticism and openness compared to other isolated focal dystonias. Whether this profile can be traced back to specific underlying disease mechanisms should be further investigated.

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard.