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Background: Spontaneous shoulder-girdle pain and scapular winging/dyskinesis can be caused by several neuromuscular disorders identifiable by electrodiagnostic studies (EDX). We describe a group of adolescent athletes with this clinical presentation but normal EDX, followed by later development of neurogenic thoracic outlet syndrome (NTOS)., Methods: We identified patients referred for evaluation of NTOS that had a history of chronic atraumatic shoulder-girdle pain, scapular winging/dyskinesis, and normal EDX. Each was refractory to conservative management and underwent supraclavicular decompression and brachial plexus neurolysis for NTOS. Functional disability was quantified by Quick Disabilities of the Arm, Shoulder, and Hand (QuickDASH) scores., Results: There were 5 female patients with a mean age at symptom onset of 14.2 ± 0.4 years, including spontaneous severe pain in the shoulder, scapula, and arm, along with prominent scapular winging/dyskinesis, and normal EDX. Symptoms had persisted for 18.9 ± 4.0 months prior to referral, with pronounced upper extremity disability (mean QuickDASH, 54.6 ± 6.9). By 3 months after surgical treatment for NTOS, all 5 patients experienced near-complete symptom resolution, including scapular winging/dyskinesis, with markedly improved function (mean QuickDASH, 2.2 ± 1.3) and a return to normal activity., Conclusions: A subset of patients with chronic atraumatic shoulder-girdle pain, scapular winging/dyskinesis, and normal EDX may develop dynamic brachial plexus compression characteristic of NTOS, exhibiting an ischemic "Sunderland-zero" nerve conduction block for which surgical decompression can result in rapid and substantial clinical improvement. The presence of surgically treatable NTOS should be considered for selected patients with long-standing scapular winging/dyskinesis who fail conservative management., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Chorea is a hyperkinetic movement disorder characterised by involuntary, brief, random and irregular contractions. Acquired chorea can present acutely or subacutely and may be asymmetrical or unilateral. A detailed history and examination are crucial to identify triggering factors and underlying cause. In this case, a woman in her late 70s presented with progressively increasing involuntary movements in her right upper and lower limbs, triggered by active movements but ceasing with rest. Her medical history included a transient ischaemic attack (TIA) 3 years prior. Examination revealed choreoathetoid movements on the right side, occasionally manifesting as ballismus, which disappeared with rest. MRI showed small areas of restricted diffusion in the left parietal lobe suggestive of a microbleed, and carotid duplex ultrasonography revealed significant stenosis in the left carotid artery. The differential diagnosis included secondary paroxysmal kinesigenic dyskinesia and limb-shaking TIA/haemodynamic factors. In this report, we discuss both these differentials and how to approach., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: A 19-year-old female patient presented at 2 years of age with dysarthria, incoherent speech, and unsteady ambulation. She is prone to leaning backward when walking and has involuntary movements of the whole body. Besides, she has poor numeracy skills. She has been diagnosed with Wilson's disease (WD) in China and Japan., Objective: The objective of this study was to further clarify the diagnosis of this patient., Methods: The patient and her parents were detected with whole-exome sequencing., Results: Based on the genetic test results, genetic analyses, and clinical manifestations, a diagnosis of WD in this patient was ruled out. The patient was eventually diagnosed with neurodevelopmental disorder with involuntary movements., Conclusions: This study reinterprets the genetic test results of a young female patient and leads to reflections on the genetic diagnostic criteria for WD: the Leipzig score is suitable for the diagnosis of most WD patients, and the genetic testing section of the score is of great diagnostic value. However, in some special cases, the proband and their first-degree relatives should further complete cosegregation analysis to determine the origin of the lesion gene and to verify the reliability of the genetic test. In addition, this study suggests that further improving the scoring rules of the gene testing part of the Leipzig scoring system may be more helpful in achieving an accurate diagnosis of WD. © 2024 International Parkinson and Movement Disorder Society., (© 2024 International Parkinson and Movement Disorder Society.)

The term "dyskinesia" has often been used interchangeably with "winging," leading to ambiguity in the literature. To address this, the broader term "scapulothoracic abnormal motion (STAM)" was introduced to describe any abnormal position or movement of the scapula on the chest, resulting in pain and dysfunction. Scapulothoracic abnormal motion has a wide range of causes, including musculoskeletal imbalances such as pectoralis minor hyperactivity, neurological impairments such as long thoracic nerve palsy, and genetic conditions like facioscapulohumeral muscular dystrophy (FSHD). This review aims to identify the different causes and classifications of STAM and to propose a detailed treatment algorithm specifically designed to manage these conditions effectively.

Introduction: Alterations of scapular kinematics are generically reported as scapular dyskinesis (SD), and are a nonspecific response to various shoulder pathologies. The most widely used classification is Kibler's (K), which is, however, characterized by poor sensitivity. To overcome this limit, using a 3D motion analysis system, we identified a specific pattern for each type of SD according to Kibler., Materials and Methods: We analyzed 34 patients with a total of 68 shoulders who came to our observation for shoulder pain. All patients underwent clinical examination, video-recording and motion analysis with SHoW Motion 3D kinematic tracking system (SM). Three independent observers classified SD into K types I, II and III. Only patients with concordant classification among the 3 operators were studied to identify a characteristic graphic pattern by type of SD., Results: Typical patterns emerged from the examination with SM. K. type 1 consists of decreased or reversed posterior tilt and increased protraction in flexion-extension (FE) in early degrees of motion. K. type 2 consists of increased protraction and marked reversal of lateral rotation in abduction-adduction (Ab-Ad) in early degrees of movement. K. type 3 has been subdivided into two subgroups: K. type 3-A, composed of patients with massive rotator cuff lesions, shows an increase in all scapular movements in both FE and Ab-Ad. K. type 3-B, composed of patients with scapular stiffness and/or impingement, presents a slight increase in posterior tilt and lateral rotation in the final grades of FE and Ab-Ad., Conclusions: The SM system allows reproducible dynamic analyses with low intra- and intra- operator variability. In our study, we demonstrated its applicability in the classification of SD. It also provides an objective and quantitative assessment of motor pattern alteration that is essential in the follow-up of patients to evaluate the effectiveness of rehabilitation and/or surgical treatment. LEVEL OF EVIDENCE 3: According to "The Oxford 2011 Levels of Evidence"., (© 2024. The Author(s).)

The role of scapular dyskinesis as a risk factor of shoulder injury has been largely discussed. However, most studies have focused on symptomatic patients and less is known on the asymptomatic dyskinetic scapula. Removing the confounding effects of the pathologies could contribute to better characterize the scapula dyskinesis. As muscle properties (strength, fatigue, nerve injury …) have been identified as causative factors of scapular dyskinesis, this study focuses specifically on characterizing the protractor and retractor muscles of the dyskinetic scapula. Thirteen asymptomatic dyskinetic volunteers were compared to eleven asymptomatic non-dyskinetic control volunteers. Muscle characteristics were evaluated in terms of maximal strength, fatigue resistance and electromyographic activity during a functional closed-chained task. The results did not identify kinematic or muscle activity significant differences between the dyskinetic and the control group even in fatigue conditions. However, the results demonstrated that protractors vs. retractors fatigue resistance ratios were imbalanced (<0.8) in the dyskinetic group and significantly lower than in the non-dyskinetic one. Our study suggests that that strength imbalances are not necessarily related to the presence of pain at the shoulder joint. These results demonstrated the importance to complete the clinical assessments of the scapula with strength evaluations even for asymptomatic sport practitioners., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Context: Scapular dyskinesis is a shoulder dysfunction that can be asymptomatic or associated with pain or weakness. Reduced strength and fatigue resistance of the scapular protractor and retractor muscles that stabilize the scapula might contribute to dyskinesis., Objectives: To determine the strength and fatigue resistance profiles of participants with symptomatic or asymptomatic scapular dyskinesis and compare them with healthy control (HC) individuals using isokinetic assessment., Design: Cross-sectional study., Setting: University hospital., Patients or Other Participants: Twenty HC individuals and 21 overhead athletes with symptomatic (n = 10) or asymptomatic (n = 11) scapular dyskinesis., Main Outcome Measure(s): Strength (peak torque, maximum work), fatigue resistance (total work), and protraction:retraction ratios measured during a closed chain isokinetic protocol (40 repetitions in concentric mode at 24.4 cm/s)., Results: The scapular protractors' strength and fatigue resistance were higher (P < .01) in HC individuals (peak torque = 5.0 ± 0.9 N/kg, maximum work = 2.4 ± 0.5 J/kg, total work = 72.4 ± 0.6 J/kg) than in asymptomatic (peak torque = 3.4 ± 0.7 N/kg, maximum work = 1.7 ± 0.4 J/kg, total work = 50.0 ± 13.7 J/kg) or symptomatic (peak torque = 3.8 ± 0.6 N/kg, maximum work = 1.8 ± 0.3 J/kg, total work = 58.1 ± 12.9 J/kg) dyskinetic participants. The symptomatic dyskinetic group presented the highest retractor strength and fatigue resistance (P < .01) values (peak torque = 5.2 ± 0.6 N/kg, maximum work = 2.9 ± 0.8 J/kg, total work = 87.7 ± 22.7 J/kg), followed by the HC individuals (peak torque = 4.7 ± 1.0 N/kg, maximum work = 2.1 ± 0.5 J/kg, total work = 65.3 ± 17.9 J/kg) and the asymptomatic dyskinetic participants (peak torque = 3.9 ± 1.0 N/kg, maximum work = 1.9 ± 0.6 J/kg, total work = 58.6 ± 18.5 J/kg). The protraction:retraction ratios showed a gradual decrease (P < .001) from the HC individuals (1.1) to the asymptomatic (0.9) and symptomatic (0.7) dyskinetic participants., Conclusions: Scapular dyskinesis is characterized by weaker scapular protractors and reduced agonist:antagonist ratios, especially when patients are symptomatic. Targeting the scapular protractors to achieve a better balance of scapular musculature in rehabilitation and strengthening programs may improve shoulder symptoms and function, but more interventional studies are required., (© by the National Athletic Trainers’ Association, Inc.)

Objective: Understanding how the main scapular muscles behave in overhead athletes with scapular dyskinesis (SD)., Design: Systematic Review., Setting: Electronic searches were performed in Pubmed (MedLine), Embase, CINAHL, and SPORTDiscus databases., Participants: Overhead athletes with SD., Main Outcome Measures: Electromyographic activity of the upper (UT), middle (MT), and lower (LT) trapezius, and serratus anterior (SA)., Results: Eight studies were included in this review. The UT activity showed a tended to increase its activity mainly during tasks over 90° compared to 45°. SA activity had similar behavior, mainly during isometric tasks. The MT also increased its activity mainly in tasks with overhead angulations when compared to lower angulations. The LT activation tended to decrease its EMG activity at angulations below 60° in overhead athletes with SD., Conclusions: The EMG behaviour of UT and SA for non-athletes appears to differ from what has already been described in the literature. The MT seems to be the most neglected muscle for scapular stabilization in overhead athletes with SD. The decrease in LT activity suggests that this may have implications for the performance of these athletes., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

To improve the initiation and speed of intended action, one of the crucial mechanisms is suppressing unwanted movements that interfere with goal-directed behavior, which is observed relatively aberrant in Parkinson's disease patients. Recent research has highlighted that dopamine deficits in Parkinson's disease predominantly occur in the caudal lateral part of the substantia nigra pars compacta (SNc) in human patients. We previously found two parallel circuits within the basal ganglia, primarily divided into circuits mediated by the rostral medial part and caudal lateral part of the SNc dopamine neurons. We have further discovered that the indirect pathway in caudal basal ganglia circuits, facilitated by the caudal lateral part of the SNc dopamine neurons, plays a critical role in suppressing unnecessary involuntary movements when animals perform voluntary goal-directed actions. We thus explored recent research in humans and non-human primates focusing on the distinct functions and networks of the caudal lateral part of the SNc dopamine neurons to elucidate the mechanisms involved in the impairment of suppressing involuntary movements in Parkinson's disease patients., (Published by Elsevier Ltd.)

Introduction: Scapular dyskinesis is prevalent among asymptomatic athletes, particularly those involved in overhead activities, and can significantly impact their neuromuscular control. These changes may impair upper extremity function and strength, elevating the risk of injury. Therefore, it is imperative to investigate how scapular dyskinesis affects shoulder proprioception, upper extremity dynamic stability, and hand grip strength in overhead athletes. This study compared these parameters between overhead athletes with and without scapular dyskinesis., Methods: The study included twenty asymptomatic professional overhead athletes with scapular dyskinesis and twenty without scapular dyskinesis, identified using the lateral scapular slide test. In this cross-sectional study, shoulder active joint position sense, serving as shoulder proprioception, was measured using an isokinetic dynamometer. Upper extremity dynamic stability and hand grip strength were evaluated using an upper quarter modified star excursion balance test (UQ-mSEBT) and a handheld dynamometer., Results: The study found that the shoulder active joint position sense was significantly lower in the scapular dyskinesis group compared to the group without scapular dyskinesis (P External Rotation  = 0.003, P Internal Rotation < 0.001, and P Forward Flexion  = 0.002). However, the two groups had no significant differences in UQ-mSEBT and hand grip strength scores., Conclusions: The results showed that scapular dyskinesis could affect the sense of shoulder active joint position among asymptomatic overhead athletes. However, it did not affect their upper extremity dynamic stability and hand grip strength., Competing Interests: Declaration of competing interest Declarations of interest: none., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

In Parkinson's disease, imbalances between 'antikinetic' and 'prokinetic' patterns of neuronal oscillatory activity are related to motor dysfunction. Invasive brain recordings from the motor network have suggested that medical or surgical therapy can promote a prokinetic state by inducing narrowband gamma rhythms (65-90 Hz). Excessive narrowband gamma in the motor cortex promotes dyskinesia in rodent models, but the relationship between narrowband gamma and dyskinesia in humans has not been well established. To assess this relationship, we used a sensing-enabled deep brain stimulator system, attached to both motor cortex and basal ganglia (subthalamic or pallidal) leads, paired with wearable devices that continuously tracked motor signs in the contralateral upper limbs. We recorded 984 h of multisite field potentials in 30 hemispheres of 16 subjects with Parkinson's disease (2/16 female, mean age 57 ± 12 years) while at home on usual antiparkinsonian medications. Recordings were done 2-4 weeks after implantation, prior to starting therapeutic stimulation. Narrowband gamma was detected in the precentral gyrus, subthalamic nucleus or both structures on at least one side of 92% of subjects with a clinical history of dyskinesia. Narrowband gamma was not detected in the globus pallidus. Narrowband gamma spectral power in both structures co-fluctuated similarly with contralateral wearable dyskinesia scores (mean correlation coefficient of ρ = 0.48 with a range of 0.12-0.82 for cortex, ρ = 0.53 with a range of 0.5-0.77 for subthalamic nucleus). Stratification analysis showed the correlations were not driven by outlier values, and narrowband gamma could distinguish 'on' periods with dyskinesia from 'on' periods without dyskinesia. Time lag comparisons confirmed that gamma oscillations herald dyskinesia onset without a time lag in either structure when using 2-min epochs. A linear model incorporating the three oscillatory bands (beta, theta/alpha and narrowband gamma) increased the predictive power of dyskinesia for several subject hemispheres. We further identified spectrally distinct oscillations in the low gamma range (40-60 Hz) in three subjects, but the relationship of low gamma oscillations to dyskinesia was variable. Our findings support the hypothesis that excessive oscillatory activity at 65-90 Hz in the motor network tracks with dyskinesia similarly across both structures, without a detectable time lag. This rhythm may serve as a promising control signal for closed-loop deep brain stimulation using either cortical or subthalamic detection., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Objective: Scapular dyskinesis is one of the causes of shoulder disorders and involves muscle weakness in the serratus anterior. This study investigated whether motor unit (MU) recruitment and firing property, which are important for muscle exertion, have altered in serratus anterior of the individuals with scapular dyskinesis., Methods: Asymptomatic adults with (SD) and without (control) scapular dyskinesis were analyzed. Surface electromyography (sEMG) waveforms were collected at submaximal voluntary contraction of the serratus anterior. The sEMG waveform was decomposed into MU action potential amplitude (MUAP AMP ), mean firing rate (MFR), and recruitment threshold. MUs were divided into low, moderate, and high thresholds, and MU recruitment and firing properties of the groups were compared., Results: High-threshold MUAP AMP was significantly smaller in the SD group than in the control group. The control group also exhibited recruitment properties that reflected the size principle, however, the SD group did not. Furthermore, the SD group had a lower MFR than the control group., Conclusions: Individuals with scapular dyskinesis exhibit altered MU recruitment properties and lower firing rates of the serratus anterior; this may be detrimental to muscle performance. Thus, it may be necessary to improve the neural drive of the serratus anterior when correcting scapular dyskinesis., Competing Interests: The authors have no conflict of interest.

Motor symptoms such as tremor and bradykinesia can develop concurrently in Parkinson's disease; thus, the ideal home monitoring system should be capable of tracking symptoms continuously despite background noise from daily activities. The goal of this study is to demonstrate the feasibility of detecting symptom episodes in a free-living scenario, providing a higher level of interpretability to aid AI-powered decision-making. Machine learning models trained on wearable sensor data from scripted activities performed by participants in the lab and clinician ratings of the video recordings of these tasks identified tremor, bradykinesia, and dyskinesia in the supervised lab environment with a balanced accuracy of 83%, 75%, and 81%, respectively, when compared to the clinician ratings. The performance of the same models when evaluated on data from subjects performing unscripted activities unsupervised in their own homes achieved a balanced accuracy of 63%, 63%, and 67%, respectively, in comparison to self-assessment patient diaries, further highlighting their limitations. The ankle-worn sensor was found to be advantageous for the detection of dyskinesias but did not show an added benefit for tremor and bradykinesia detection here.

Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by biphasic seizures and white matter lesions with reduced diffusion, which are often accompanied by involuntary movements. The neurological outcomes of AESD vary from normal to mild or severe sequelae, including intellectual disability, paralysis, and epilepsy. The present study aimed to clarify the prognostic factors of AESD, including involuntary movements., Methods: We enrolled 29 patients with AESD admitted to Tottori University Hospital from 1991 to 2020 and retrospectively analyzed their clinical data. Neurological outcomes were assessed by the Pediatric Cerebral Performance Category score and cerebral paralysis as neurological sequelae., Results: Of the 29 patients, 12 had favorable outcomes and 17 had unfavorable outcomes. Univariate analysis revealed that the presence of underlying diseases, a decline in Glasgow Coma Scale (GCS) score 12-24 h after early seizures, and involuntary movements were associated with unfavorable outcomes. In multivariate analysis, a decline in GCS score and involuntary movements were associated with unfavorable outcomes. The sensitivities and specificities of underlying diseases, a decline of ≥ 3 points in GCS score 12-24 h after early seizures, and involuntary movements for unfavorable outcomes were 53% and 92%, 92% and 65%, and 59% and 92%, respectively., Conclusions: The appearance of involuntary movements may be associated with unfavorable outcomes of AESD. The prognostic factors identified herein are comparable with previously known prognostic factors of consciousness disturbances after early seizures., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Aim: To outline the development and examine the content and construct validity of a new tool, the Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS), which measures the impact of dyskinesia on everyday activities in children with cerebral palsy (CP)., Method: D-FIS content was informed by a systematic review of dyskinesia outcome measures, in collaboration with children with dyskinetic CP, parents, caregivers, and expert clinicians. The D-FIS uses parent proxy to rate impact of dyskinesia on everyday activities. Construct validity was determined by examining internal consistency; known groups validity with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS), and Eating and Drinking Ability Classification System (EDACS); and convergent validity with the Barry-Albright Dystonia Scale (BADS)., Results: Fifty-seven parents of children (29 males, 28 females, mean [SD] age 11y 8mo [4y 4mo], range 2y 6mo-18y) completed the D-FIS. Correlation between D-FIS and GMFCS was r=0.86 (95% confidence interval [CI]: 0.77-0.91, p<0.001); MACS r=0.84 (95% CI: 0.73-0.90, p<0.001); CFCS r=0.80 (95% CI: 0.67-0.88, p<0.001); and EDACS r=0.78 (95% CI: 0.66-0.87). Correlation between D-FIS and BADS was r=0.77 (95% CI: 0.64-0.86, p<0.001). Cronbach's alpha was 0.96., Interpretation: The D-FIS demonstrates good construct validity and high internal consistency. The D-FIS will be useful for identifying priorities for intervention. It adds to the measurement tool kit for children with dyskinetic CP by addressing functional impact of dyskinetic movements and postures. What this paper adds The Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS) assesses the perceived impact of dyskinesia on daily activities in children with cerebral palsy (CP). The D-FIS demonstrates good construct validity and high internal consistency. The D-FIS is a clinically feasible, family-centred tool that fills a current gap in the dyskinetic CP assessment toolkit., (© 2021 Mac Keith Press.)

Objectives: The objective of this study is to describe the mechanism of damage to subcortical structures in chronic kidney disease (CKD) and to describe the range of movement disorders associated with CKD., Materials and Methods: We have reviewed the Medline literature up to January of 2020 using key words movement disorders and chronic kidney disease. The reviewed articles were studied for mechanisms of subcortical damage in CKD as well as type of the reported movements, their frequency and updated treatment., Results: The search revealed 183 articles most of them dealing with restless legs syndrome. The damage to basal ganglia in CKD resulted from several mechanisms including accumulation of nitro tyrosine caused by reactive oxygen species and action of uremic toxins leading to endothelial damage and dysfunction of blood-brain barrier. Involuntary movements in CKD include restless legs syndrome (RLS), myoclonus, asterixis, dystonia, chorea, tremor, and Parkinsonism., Conclusions: Chronic kidney disease can cause several abnormal involuntary movements via damaging basal ganglia and subcortical structures. The most common movement disorders in CKD are RLS, myoclonus and asterixis. Restless legs syndrome and myoclonus when severe, need and respond to treatment. Movement disorders in CKD improve with improvement of kidney function., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: To examine specific symptom progression patterns and possible disease staging in Parkinson disease clinical subtypes., Methods: We recently identified Parkinson disease clinical subtypes based on comprehensive behavioral evaluations, "Motor Only," "Psychiatric & Motor," and "Cognitive & Motor," which differed in dementia and mortality rates. Parkinson disease participants ("Motor Only": n = 61, "Psychiatric & Motor": n = 17, "Cognitive & Motor": n = 70) and controls (n = 55) completed longitudinal, comprehensive motor, cognitive, and psychiatric evaluations (average follow-up = 4.6 years). Hierarchical linear modeling examined group differences in symptom progression. A three-way interaction among time, group, and symptom duration (or baseline age, separately) was incorporated to examine disease stages., Results: All three subtypes increased in motor dysfunction compared to controls. The "Motor Only" subtype did not show significant cognitive or psychiatric changes compared to the other two subtypes. The "Cognitive & Motor" subtype's cognitive dysfunction at baseline further declined compared to the other two subtypes, while also increasing in psychiatric symptoms. The "Psychiatric & Motor" subtype's elevated psychiatric symptoms at baseline remained steady or improved over time, with mild, steady decline in cognition. The pattern of behavioral changes and analyses for disease staging yielded no evidence for sequential disease stages., Interpretation: Parkinson disease clinical subtypes progress in clear, temporally distinct patterns from one another, particularly in cognitive and psychiatric features. This highlights the importance of comprehensive clinical examinations as the order of symptom presentation impacts clinical prognosis., (© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Respiratory complaints are not uncommon in patients with Parkinson's disease (PD). While many are explained by pulmonary and cardiovascular problems unrelated to PD, secondary effects of PD, such as kyphoscoliosis, respiratory muscle rigidity, repeated pneumonias, or side effects of medication such as dyskinesias, there is a small group of patients with paroxysmal dyspnea for whom neither anxiety or other explanation has been found. This Point of View was written to call attention to this neglected, uncommon, but very distressing symptom., (Copyright © 2021. Published by Elsevier Ltd.)

The aim of the study was to assess the factors associated with periodic limb movements during sleep (PLMS) among obstructive sleep apnea syndrome (OSAS) patients and identify the role of PLMS in patients with OSAS. 303 adult patients with OSAS were included in the study. All patients completed physical examination, Epworth sleepiness scale (ESS), and polysomnography. Diagnosis of PLMS was made if the periodic leg movements index (PLMI) was ≥ 15. Chi-square test, ANOVA, univariate and multivariate logistic regression analyses were conducted to identify factors associated with PLMS among OSAS patients. Statistical analyses were performed with SPSS 26.0 for mac. Statistically significant difference was considered if P value < 0 .05. Among the 303 adult patients with OSAS, 98 patients had significant PLMS and the other 205 had no significant PLMS. Compared with OSAS patients without PLMS, OSAS patient with PLMS were older, had shorter REM duration and greater apnea-hypopnea index (AHI) (P < 0.05). The study suggests that PLMS is a matter of concern among patients with OSAS. A better understanding of the role of PLMS among OSAS patients could be useful in better recognition, intervention and treatment of OSAS., (© 2021. The Author(s).)

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy, and causes severe developmental disability and lifelong motor, behavioral, and autonomic symptoms including oculogyric crises (OGC), sleep disorder, and mood disturbance. We investigated the safety and efficacy of delivery of a viral vector expressing AADC (AAV2-hAADC) to the midbrain in children with AADC deficiency (ClinicalTrials.gov Identifier NCT02852213). Seven (7) children, aged 4-9 years underwent convection-enhanced delivery (CED) of AAV2-hAADC to the bilateral substantia nigra (SN) and ventral tegmental area (VTA) (total infusion volume: 80 µL per hemisphere) in 2 dose cohorts: 1.3 × 10 11 vg (n = 3), and 4.2 × 10 11 vg (n = 4). Primary aims were to demonstrate the safety of the procedure and document biomarker evidence of restoration of brain AADC activity. Secondary aims were to assess clinical improvement in symptoms and motor function. Direct bilateral infusion of AAV2-hAADC was safe, well-tolerated and achieved target coverage of 98% and 70% of the SN and VTA, respectively. Dopamine metabolism was increased in all subjects and FDOPA uptake was enhanced within the midbrain and the striatum. OGC resolved completely in 6 of 7 subjects by Month 3 post-surgery. Twelve (12) months after surgery, 6/7 subjects gained normal head control and 4/7 could sit independently. At 18 months, 2 subjects could walk with 2-hand support. Both the primary and secondary endpoints of the study were met. Midbrain gene delivery in children with AADC deficiency is feasible and safe, and leads to clinical improvements in symptoms and motor function., (© 2021. The Author(s).)

Apraxia of speech is a motor disorder characterized by the impaired ability to coordinate the sequential articulatory movements necessary to produce speech. The critical cortical area(s) involved in speech apraxia remain controversial because many of the previously reported cases had additional aphasic impairments, preventing localization of the specific cortical circuit necessary for the somatomotor execution of speech. Four patients with "pure speech apraxia" (i.e., who had no aphasic and orofacial motor impairments) are reported here. The critical lesion in all four patients involved, in the left hemisphere, the precentral gyrus of the insula (gyrus brevis III) and, to a lesser extent, the nearby areas with which it is strongly connected: the adjacent subcentral opercular cortex (part of secondary somatosensory cortex) and the most inferior part of the central sulcus where the orofacial musculature is represented. There was no damage to rostrally adjacent Broca's area in the inferior frontal gyrus. The present study demonstrates the critical circuit for the coordination of complex articulatory movements prior to and during the execution of the motor speech plans. Importantly, this specific cortical circuit is different from those that relate to the cognitive aspects of language production (e.g., Broca's area on the inferior frontal gyrus)., (© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: We aimed to study the clinical, etiologic, and radiological characteristics in children with dyskinetic cerebral palsy (DCP) and to compare the etiologic subtypes of hyperbilirubinemia and perinatal asphyxia., Methods: This is a cross-sectional, observational study that enrolled consecutive children with DCP, aged one to 14 years., Results: Sixty-five children with DCP were evaluated. Most children were boys (77%, n = 50), and term gestation (80%, n = 52). Presenting concerns were global developmental delay (97%, n = 63) and involuntary movements (60%, n = 39). Hyperbilirubinemia (66%, n = 43) and perinatal asphyxia (29%, n = 19) were the most important causes. The majority (83%, n = 54) of children were severely disabled (level V and IV). The hyperbilirubinemia group had significant motor delay (63% vs 37%, P = 0.03) and upward gaze palsy (69.7% vs 31.5%, P = 0.005) when compared with the perinatal asphyxia group. Hyperbilirubinemia significantly involved pallidi (86% vs 10% P = 0.0001) and subthalamic nucleus (26% vs none, P = 0.01), whereas asphyxia significantly involved the putamen (58% vs none, P = 0.0001), thalamus (63% vs none, P = 0.0001), and periventricular white matter (79% vs 19%, P = 0.0001)., Conclusions: DCP is the dominant type of cerebral palsy seen in term-born babies with severe dystonia, developmental delay, and motor impairment. Hyperbilirubinemia is the major cause of DCP in the study. Hyperbilirubinemia is associated with motor delay, upward gaze palsy, prominent dystonia, and involvement of globus pallidi and subthalamic nuclei., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Parkinson disease (PD) and other related diseases with α-synuclein pathology are associated with a long prodromal or preclinical stage of disease. Predictive models based on diagnosis of idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) make it possible to identify people in the prodromal stage of synucleinopathy who have a high probability of future disease and provide an opportunity to implement neuroprotective therapies. However, rehabilitation providers may be unaware of iRBD and the motor abnormalities that indicate early motor system dysfunction related to α-synuclein pathology. Furthermore, there is no existing rehabilitation framework to guide early interventions for people with iRBD. The purpose of this work is to (1) review extrapyramidal signs of motor system dysfunction in people with iRBD and (2) propose a framework for early protective or preventive therapies in prodromal synucleinopathy using iRBD as a predictive marker. Longitudinal and cross-sectional studies indicate that the earliest emerging motor deficits in iRBD are bradykinesia, deficits performing activities of daily living, and abnormalities in speech, gait, and posture. These deficits may emerge up to 12 years before a diagnosis of synucleinopathy. The proposed rehabilitation framework for iRBD includes early exercise-based interventions of aerobic exercise, progressive resistance training, and multimodal exercise with rehabilitation consultations to address exercise prescription, progression, and monitoring. This rehabilitation framework may be used to implement neuroprotective, multidisciplinary, and proactive clinical care in people with a high likelihood of conversion to PD, dementia with Lewy bodies, or multiple systems atrophy.

Dyskinesia is a serious complication of Parkinson's disease during levodopa (L-DOPA) treatment. The pathophysiology of L-DOPA-induced dyskinesia (LID) is complex and not fully illuminated. At present, treatment of dyskinesia is quite limited. Recent studies demonstrated neuroinflammation plays an important role in development of LID. Thus, inhibition of neuroinflammation might open a new avenue for LID treatment. Resveratrol (RES) is the most well-known polyphenolic stilbenoid and verified to possess a large variety of biological activities. DA neurotoxicity was assessed via behavior test and DA neuronal quantification. The movement disorders of dyskinesia were detected by the abnormal involuntary movements scores analysis. Effects of RES on glial cells-elicited neuroinflammation were also explored. Data showed that RES attenuated dyskinesia induced by L-DOPA without affecting L-DOPA's anti-parkinsonian effects. Furthermore, RES generated neuroprotection against long term treatment of L-DOPA-induced DA neuronal damage. Meanwhile, RES reduced protein expression of dyskinesia molecular markers, ΔFOS B and ERK, in the striatum. Also, there was a strong negative correlation between DA system damage and ΔFOS B level in the striatum. In addition, RES inhibited microglia and astroglia activation in substantia nigra and subsequent inflammatory responses in the striatum during L-DOPA treatment. RES alleviates dyskinesia induced by L-DOPA and these beneficial effects are closely associated with protection against DA neuronal damage and inhibition of glial cells-mediated neuroinflammatory reactions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Zheng, Fan, Li, Li, Sheng and Zhang.)

Purpose: To determine whether the development of levodopa-induced dyskinesia (LID) in Parkinson disease (PD) specifically relates to dopaminergic depletion in sensorimotor-related subregions of the striatum., Methods: Our primary study sample consisted of 185 locally recruited PD patients, of which 73 (40%) developed LID. Retrospective 123I-FP-CIT SPECT data were used to quantify the specific dopamine transporter (DAT) binding ratio within distinct functionally defined striatal subregions related to limbic, executive, and sensorimotor systems. Regional DAT levels were contrasted between patients who developed LID (PD + LID) and those who did not (PD-LID) using analysis of covariance models controlled for demographic and clinical features. For validation of the findings and assessment of the evolution of LID-associated DAT changes from an early disease stage, we also studied serial 123I-FP-CIT SPECT data from 343 de novo PD patients enrolled in the Parkinson Progression Marker's Initiative using mixed linear model analysis., Results: Compared with PD-LID, DAT level reductions in PD + LID patients were most pronounced in the sensorimotor striatal subregion (F = 5.99, P = 0.016) and also significant in the executive-related subregion (F = 5.30, P = 0.023). In the Parkinson Progression Marker's Initiative cohort, DAT levels in PD + LID (n = 161, 47%) were only significantly reduced compared with PD-LID in the sensorimotor striatal subregion (t = -2.05, P = 0.041), and this difference was already present at baseline and remained largely constant over time., Conclusion: Measuring DAT depletion in functionally defined sensorimotor-related striatal regions of interest may provide a more sensitive tool to detect LID-associated dopaminergic changes at an early disease stage and could improve individual prognosis of this common clinical complication in PD., Competing Interests: Conflicts of interest and sources of funding: This work was supported by the Instituto de Salud Carlos III-Fondo Europeo de Desarrollo Regional (ISCIII-FEDER) (PI14/01823, PI16/01575, PI18/01898, PI19/01576), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía (CVI-02526, CTS-7685), the Consejería de Salud y Bienestar Social de la Junta de Andalucía (PI-0471-2013, PE-0210-2018, PI-0459-2018, PE-0186-2019), and the Fundación Alicia Koplowitz. M.A.L.-E. is supported by VI-PPIT-US from the University of Seville (USE-19094-G). M.J.G. is supported by the “Miguel Servet” program (CP19/00031), J.F.M.-R. is supported by the “Sara Borrell” program (CD13/00229) and VI-PPIT-US from the University of Seville (USE-18817-A), S.J. by the “Juan Rodés” program (B-0007-2019), and D.M.-G. by the “Río Hortega” program (CM18/00142)., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Introduction: Functional brain imaging has shown alterations in the basal ganglia, cortex and cerebellum in Parkinson's disease patients. However, few functional imaging studies have tested how these changes evolve over time. Our study aimed to test the longitudinal progression of movement-related functional activity in Parkinson's disease patients., Methods: At baseline, 48 Parkinson's disease patients and 16 healthy controls underwent structural and functional magnetic resonance imaging during a joystick motor task. Patients had repeated imaging after 18-months (n = 42) and 36-months (n = 32). T-tests compared functional responses between Parkinson's disease patients and controls, and linear mixed effects models examined longitudinal differences within Parkinson's disease. Correlations of motor-activity with bradykinesia, rigidity and tremor were undertaken. All contrasts used whole-brain analyses, thresholded at Z > 3.1 with a cluster-wise P < 0.05., Results: Baseline activation was significantly greater in patients than controls across contralateral parietal and occipital regions, ipsilateral precentral gyrus and thalamus. Longitudinally, patients showed significant increases in cerebellar activity at successive visits following baseline. Task-related activity also increased in the contralateral motor, parietal and temporal areas at 36 months compared to baseline, however this was reduced when controlling for motor task performance., Conclusion: We have shown that there are changes over time in the blood-activation level dependent response of patients with Parkinson's disease undertaking a simple motor task. These changes are observed primarily in the ipsilateral cerebellum and may be compensatory in nature., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objective: To explore the effects of low-frequency repetitive transcranial magnetic stimulation (LF rTMS) on cortico-striatal-cerebellar resting state functional connectivity in Parkinson's disease (PD), with and without dyskinesias., Methods: Because there is increasing evidence of an involvement of the pre-supplementary motor area (pre-SMA) in the pathophysiology of levodopa induced dyskinesias, we targeted the right pre-SMA with LF rTMS in 17 PD patients. We explored the effects of one sham-controlled LF rTMS session on resting state functional connectivity of interconnected brain regions by using functional MRI, and how it is modified by levodopa. The clinical effect on motor function and dyskinesias was documented., Results: As expected, one LF rTMS session did not alleviate dyskinesias. However, real, and not sham LF rTMS significantly increased the functional connectivity with the right putamen in patients with dyskinesias. In patients without dyskinesias, the real LF rTMS session significantly decreased functional connectivity in the right putamen and the cerebellum. We found no effects on functional connectivity after levodopa ingestion., Conclusion: One session of 1 Hz rTMS has opposing effects on pre-SMA functional connectivity depending on the PD patients' dyskinesia state., Significance: Patients dyskinesias state determines the way LF rTMS affects functional connectivity in late stage PD., (Copyright © 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.)

A 30-year-old man presented with a two-year history of involuntary movements in the face and mouth. Movements progressively worsened during the previous six months. Born from non-consanguineous parents, he had normal developmental milestones and his past medical history was unremarkable. The patient did not take any medication or had a history of illicit drug use. Family history was positive for unsteady gait of unknown cause. Neurological examination disclosed isolated orofacial dystonia affecting the face, particularly his mouth and eyes, resembling Meige's syndrome. Dystonic closure of eyelids and dystonic contractions of orbicularis oris and platysma were particularly visible while patient was talking. The Montreal Cognitive Assessment score was 30. There were no other movement disorders or other abnormalities in neurological examination. Of note, cerebellar examination as well as gait assessment were normal., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Background: Sensorimotor abnormalities precede and predict the onset of psychosis. Despite the practical utility of sensorimotor abnormalities for early identification, prediction, and individualized medicine applications, there is currently no dedicated self-report instrument designed to capture these important behaviors. The current study assessed and validated a questionnaire designed for use in individuals at clinical high-risk for psychosis (CHR)., Methods: The current study included both exploratory (n = 3009) and validation (n = 439) analytic datasets-that included individuals identified as meeting criteria for a CHR syndrome (n = 84)-who completed the novel Sensorimotor Abnormalities and Psychosis-Risk (SMAP-R) Scale, clinical interviews and a finger-tapping task. The structure of the scale and reliability of items were consistent across 2 analytic datasets. The resulting scales were assessed for discriminant validity across CHR, community sample non-psychiatric volunteer, and clinical groups., Results: The scale showed a consistent structure across 2 analytic datasets subscale structure. The resultant subscale structure was consistent with conceptual models of sensorimotor pathology in psychosis (coordination and dyskinesia) in both the exploratory and the validation analytic dataset. Further, these subscales showed discriminant, predictive, and convergent validity. The sensorimotor abnormality scales discriminated CHR from community sample non-psychiatric controls and clinical samples. Finally, these subscales predicted to risk calculator scores and showed convergent validity with sensorimotor performance on a finger-tapping task., Conclusion: The SMAP-R scale demonstrated good internal, discriminant, predictive, and convergent validity, and subscales mapped on to conceptually relevant sensorimotor circuits. Features of the scale may facilitate widespread incorporation of sensorimotor screening into psychosis-risk research and practice., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Neurological soft signs (NSS) are well documented in individuals with schizophrenia (SZ), yet so far, the relationship between NSS and specific symptom expression is unclear. We studied 76 SZ patients using magnetic resonance imaging (MRI) to determine associations between NSS, positive symptoms, gray matter volume (GMV), and neural activity at rest. SZ patients were hypothesis-driven stratified according to the presence or absence of auditory verbal hallucinations (AVH; n = 34 without vs 42 with AVH) according to the Brief Psychiatric Rating Scale. Structural MRI data were analyzed using voxel-based morphometry, whereas intrinsic neural activity was investigated using regional homogeneity (ReHo) measures. Using ANCOVA, AVH patients showed significantly higher NSS in motor and integrative functions (IF) compared with non-hallucinating (nAVH) patients. Partial correlation revealed that NSS IF were positively associated with AVH symptom severity in AVH patients. Such associations were not confirmed for delusions. In region-of-interest ANCOVAs comprising the left middle and superior temporal gyri, right paracentral lobule, and right inferior parietal lobule (IPL) structure and function, significant differences between AVH and nAVH subgroups were not detected. In a binary logistic regression model, IF scores and right IPL ReHo were significant predictors of AVH. These data suggest significant interrelationships between sensorimotor integration abilities, brain structure and function, and AVH symptom expression., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Scapular focused exercise interventions are frequently used to treat individuals with shoulder pain. However, evidence for changes in scapular motion after intervention is limited., Objective: To compare the effects of scapular movement training versus standardized exercises for individuals with shoulder pain., Methods: This will be a single-blinded randomized controlled trial. Sixty-four individuals with shoulder pain for at least 3 months, scapular dyskinesis, and a positive scapular assistance test will be randomly allocated to one of two groups: Scapular Movement Training (group 1) and Standardized Exercises (group 2). Group 1 will receive education about scapular position and movement, and be trained to modify the scapular movement pattern. Group 2 will perform stretching and strengthening exercises. Both groups will be treated twice a week for eight weeks. Three-dimensional scapular kinematics and muscle activity of the serratus anterior and upper, middle, and lower trapezius during elevation and lowering of the arm will be assessed at baseline and after 8 weeks of treatment. Pain intensity, function, fear avoidance beliefs, and kinesiophobia will be assessed at baseline and after 4 and 8 weeks of treatment, and 4 weeks after the end of treatment., Conclusions: The results of this study may contribute to a better understanding of the efficacy of scapular focused treatments for individuals with shoulder pain., Clinical Trial Registration: NCT03528499., (Copyright © 2020 Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia. Publicado por Elsevier España, S.L.U. All rights reserved.)

To evaluate movement quality of upper limb (UL) prosthesis users, performance-based outcome measures have been developed that examine the normalcy of movement as compared to a person with a sound, intact hand. However, the broad definition of "normal movement" and the subjective nature of scoring can make it difficult to know which areas of the body to evaluate, and the expected magnitude of deviation from normative movement. To provide a more robust approach to characterizing movement differences, the goals of this work are to identify degrees of freedom (DOFs) that will inform abnormal movement for several tasks using unsupervised machine learning (clustering methods) and elucidate the variations in movement approach across two upper-limb prosthesis devices with varying DOFs as compared to healthy controls. 24 participants with no UL disability or impairment were recruited for this study and trained on the use of a body-powered bypass (n = 6) or the DEKA limb bypass (n = 6) prosthetic devices or included as normative controls. 3D motion capture data were collected from all participants as they performed the Jebsen-Taylor Hand Function Test (JHFT) and targeted Box and Blocks Test (tBBT). Range of Motion, peak angle, angular path length, mean angle, peak angular velocity, and number of zero crossings were calculated from joint angle data for the right/left elbows, right/left shoulders, torso, and neck and fed into a K-means clustering algorithm. Results show right shoulder and torso DOFs to be most informative in distinguishing between bypass user and norm group movement. The JHFT page turning task and the seated tBBT elicit movements from bypass users that are most distinctive from the norm group. Results can be used to inform the development of movement quality scoring methodology for UL performance-based outcome measures. Identifying tasks across two different devices with known variations in movement can inform the best tasks to perform in a rehabilitation setting that challenge the prosthesis user's ability to achieve normative movement., Competing Interests: The authors have declared that no competing interests exist.

Objective: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis., Methods: We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants., Results: The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm persistence in one-half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one-third of all cases paroxysms of fast activity with electrodecrement. ALG13-related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one-third of the cases, whereas purposeful hand use was sparse or completely absent. Hand stereotypies and dyskinetic movements including dystonia or choreoathetosis were relatively frequent. Verbal communication skills were absent or poor, and eye contact and pursuit were often impaired., Significance: X-linked ALG13-related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation., (© 2021 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Minor neurological signs are subtle deficits in sensory integration, motor coordination, and sequencing of complex motor acts present in excess in the early stages of psychosis. Still, it remains unclear whether at least some of these signs represent trait or state markers for psychosis and whether they are markers of long-term disease outcome of clinical utility. We examined the relationship between neurological function at illness onset assessed with the Neurological Evaluation Scale and subsequent illness course in 233 patients from AESOP-10 (Aetiology and Ethnicity in Schizophrenia and Other Psychoses), a 10-year follow-up study of a population-based cohort of individuals recruited at the time of their first episode of psychosis in the United Kingdom. In 56 of these patients, we also explored changes in neurological function over time. We included a group of 172 individuals without psychosis as controls. After 10 years, 147 (63%) patients had developed a non-remitting course of illness, and 86 (37%) a remitting course. Already at first presentation, patients who developed a non-remitting course had significantly more primary, motor coordination, and total signs than both remitting patients and healthy controls. While Motor Coordination signs did not change over time, rates of Primary, Sensory Integration, and Total signs increased, independently of illness course type. These findings suggest that motor coordination problems could be a useful early, quick, and easily detectable marker of subsequent clinical outcome. With other motor abnormalities, a measure of motor incoordination could contribute to the identification of the most vulnerable individuals, who could benefit from targeted and more assertive treatment approaches., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.)

Rationale: Stiff-person syndrome (SPS) is a rare neurological immune disorder characterized by progressive axial and proximal limb muscle rigidity, stiffness, and painful muscle spasms. Amphiphysin antibodies are positive in approximately 5% of SPS patients. To date, there have been no relevant reports on involuntary movement in cases of SPS with amphiphysin antibodies., Patient Concerns: We describe the case of a 69-year-old man with a 2-year history of progressive stiffness in the neck, bilateral shoulders, and chest muscles, and a more-than-a-year history of dyspnea accompanied by mandibular involuntary movement. The patient was a vegetarian and had good health in the past. The family's medical history was unremarkable., Diagnoses: He was diagnosed with SPS based on the progressive muscle stiffness, the amphiphysin antibody seropositivity, the continuous motor activity on electromyography, and the effective treatment with benzodiazepines., Interventions: The patient was orally administered clonazepam and baclofen, and corticosteroid IV followed by prednisone orally., Outcomes: In the hospital, after treatment with methylprednisolone, clonazepam, and baclofen, the patient's rigidity, stiffness, and dyspnea significantly improved. The involuntary movement of the mandible persisted throughout the treatment process. Currently, under oral treatment with baclofen and clonazepam, the patient's symptoms of muscle stiffness and dyspnea exist, and follow-up is continued., Lessons: We report a rare and novel case of involuntary movement in SPS with amphiphysin antibodies. The present report explores the relationship between SPS and involuntary movement and expands the spectrum of clinical manifestations of SPS., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose: Aim of this study is to establish an objective and easily applicable method that will allow clinicians to quantitatively assess scapular dyskinesis during clinical examination using a computer tablet software. Hypothesis is that dyskinetic scapulae present greater motion-deviation from the thoracic wall-compared to the non-dyskinetic ones and that the software will be able to record those differences., Methods: Twenty-five patients and 19 healthy individuals were clinically evaluated for the presence of dyskinesis or not. According to the clinical diagnosis, the observations were divided into three groups; A. Dyskinetic scapulae with symptoms (n = 25), B. Contralateral non-dyskinetic scapulae without symptoms (n = 25), C. Healthy control scapulae (n = 38). Then, all individuals were tested using a tablet with the PIVOT™ image-based analysis software (PIVOT, Impellia, Pittsburgh, PA, USA). The motion produced by the scapula medial border and inferior angle deviation from the thoracic wall was recorded., Results: The deviation of the medial border and inferior angle of the scapula from the thoracic wall was 24.6 ± 7.3 mm in Group A, 14.7 ± 4.9 mm in Group B, and 12.4 ± 5.2 mm in Group C. The motion recorded in the dyskinetic scapulae group was significantly greater than both the contralateral non-dyskinetic scapulae group (p < 0.01) and the healthy control scapulae group (p < 0.01)., Conclusion: The PIVOT™ software was efficient to detect significant differences in the motion between dyskinetic and non-dyskinetic scapulae. This system can support the clinical diagnosis of dyskinesis with a numeric value, which not only contributes to scapula dyskinesis grading but also to the evaluation of the progress and efficacy of the applied treatment, thus providing a feedback to the clinician and the patient., Level of Evidence: IV, laboratory study.

In Parkinson's disease, striatal dopamine depletion produces profound alterations in the neural activity of the cortico-basal ganglia motor loop, leading to dysfunctional motor output and parkinsonism. A key regulator of motor output is the balance between excitation and inhibition in the primary motor cortex, which can be assessed in humans with transcranial magnetic stimulation techniques. Despite decades of research, the functional state of cortical inhibition in Parkinson's disease remains uncertain. Towards resolving this issue, we applied paired-pulse transcranial magnetic stimulation protocols in 166 patients with Parkinson's disease (57 levodopa-naïve, 50 non-dyskinetic, 59 dyskinetic) and 40 healthy controls (age-matched with the levodopa-naïve group). All patients were studied OFF medication. All analyses were performed with fully automatic procedures to avoid confirmation bias, and we systematically considered and excluded several potential confounding factors such as age, gender, resting motor threshold, EMG background activity and amplitude of the motor evoked potential elicited by the single-pulse test stimuli. Our results show that short-interval intracortical inhibition is decreased in Parkinson's disease compared to controls. This reduction of intracortical inhibition was obtained with relatively low-intensity conditioning stimuli (80% of the resting motor threshold) and was not associated with any significant increase in short-interval intracortical facilitation or intracortical facilitation with the same low-intensity conditioning stimuli, supporting the involvement of cortical inhibitory circuits. Short-interval intracortical inhibition was similarly reduced in levodopa-naïve, non-dyskinetic and dyskinetic patients. Importantly, intracortical inhibition was reduced compared to control subjects also on the less affected side (n = 145), even in de novo drug-naïve patients in whom the less affected side was minimally symptomatic (lateralized Unified Parkinson's Disease Rating Scale part III = 0 or 1, n = 23). These results suggest that cortical disinhibition is a very early, possibly prodromal feature of Parkinson's disease., (© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Direct current cardioversion (DCCV) is one of the basic methods for restoring sinus rhythm (SR) in patients with atrial fibrillation (AF). Left atrial (LA) strain is one of the parameters used to assess the risk of AF recurrence following DCCV. Assessing the strain also allows for the detection of segmental disorders of LA wall contractility, including dispersion or dyskinesia. In the present study, we determined the predictive value of LA wall dyskinesia in assessing the risk of AF recurrence after DCCV. We performed a comprehensive echocardiography in 89 patients with persistent AF following successful DCCV. We assessed the strain and strain rate in the reservoir (r), conduit, and contractile (ct) phases by using speckle tracking echocardiography. Dyskinesia was diagnosed when the strain rate of any segment of the LA wall displayed positive values during contraction. After 12 months, 47.2% of patients maintained SR. Patients who maintained SR had a significantly lower LA strain (LAS)r assessed in the apical 4-chamber view (4c) (11.38 ± 4.63 vs 14.54 ± 5.11; P = .004) and 2-chamber view (2c) (11.05 ± 4.1 vs 14.93 ± 6.82%; P = .006), LASct4c (2.51 ± 2.3 vs 5.09 ± 3.29%; P < .001), LASct2c (3.6 ± 2.98 vs 5.67 ± 4.23%; P = .008), peak strain rate (pLASR) ct4c (0.36 ± 0.24 s vs 0.62 ± 0.4; P < .001) and pLASRct2c (0.49 ± 0.30 vs 0.79 ± 0.53 s; P = .01). LA dyskinesia was observed less frequently in the 4c view in patients who maintained SR (59.57 vs 17.5%; P < .001). Multivariable logistic regression showed that the LASct4c (odds ratio (OR) 0.78; 95%CI 0.63-0.97; P = .027) and LA dyskinesia observed in the 4c view (OR 3.53; 95%CI 1.16-10.76; P = .027) were significant independent predictors of AF recurrence at 12 months. We conclude that LA dyskinesia observed in the 4c view and LASct4c are independent risk factors for AF recurrence following DCCV.

Objective: Whereas functional symptoms are common in Parkinson's disease (PD), a parkinsonian syndrome may occasionally reflect a pure functional disorder (also named functional parkinsonism [FP]). This review aimed to decipher these entities to clarify the link between functional manifestations and PD., Methods: Following the PRISMA guidelines, the authors performed a systematic literature search of the PubMed and Science Direct databases for the period 1988 to December 2018 to identify studies of patients with either FP or PD associated with functional neurological symptoms., Results: From the 844 articles screened, 22 were retained, including 12 studies of functional neurological symptoms in PD and 16 studies of FP. The studies of functional symptoms in PD included 121 patients-57% were women, and the mean age was 61.3 years. Psychiatric history (mostly depression) and exposure to triggering stressors were frequent: 60% and 82.5%, respectively. The most common symptom was tremor (33.8%), most often located on the side most affected by PD (50%). Studies of FP included a total of 120 patients-62% were women, and the mean age was 50.7 years. The first FP symptoms appeared on average 5 years before diagnosis, with an abrupt onset in half the cases; 67.6% had a psychiatric history, and 46.8% were exposed to triggering stressors, such as physical injury, stress at work, or loss of family or friends., Conclusions: Findings suggest a possible relationship between PD and FP. Clinicians should keep in mind the possibility of functional symptoms in PD patients.

Upper crossed syndrome (UCS) refers to the altered muscle activations and movement patterns in scapulae along with some abnormal alignment in the upper quarter, which may contribute to the dysfunction of the cervicothoracic and glenohumeral joints. The present study aimed to investigate the effectiveness of a comprehensive corrective exercise program (CCEP) and subsequent detraining on alignment, muscle activation, and movement pattern in men with the UCS. This randomized controlled trial included 24 men. The intervention group conducted CCEP (8 weeks), followed by four weeks of detraining and the control group maintained normal daily activities. Electromyography of selected muscles, scapular dyskinesis test, head, shoulder, and thoracic spine angle were measured at baseline, post-test, and follow-up. There were significant differences for Group x time interaction and also for within-group from pre-test to post-test and follow-up in all outcomes. Also, significant differences were observed in three outcomes at post-test and follow-up between the CCEP and control group in favor of the CCEP. In Conclusion, the present study demonstrates that the CCEP for individuals with UCS is feasible and effective, improving muscle activation imbalance, movement patterns, and alignment. Importantly, these improvements were maintained after four weeks of detraining, suggesting lasting neuromuscular re-training adaptations.

Competing Interests: Competing interests: None declared.

Objective: To analyse autoantibody status in a well-defined European multicentre cohort of patients with epilepsy of unknown aetiology and to validate the recently proposed Antibody Prevalence in Epilepsy (APE2) and Response to ImmunoTherapy in Epilepsy (RITE2) scores., Methods: We retrospectively collected clinical and paraclinical data of 92 patients referred to the Neurology Units of Verona and Salzburg between January 2014 and July 2019 with new-onset epilepsy, status epilepticus or chronic epilepsy of unknown aetiology. Fixed and live cell-based assays, tissue-based assays, immunoblot, and live rat hippocampal cell cultures were performed in paired serum/cerebrospinal fluid (CSF) to detect antineuronal and antiglial antibodies. The APE2 and RITE2 scores were then calculated and compared with clinical and laboratory data., Results: Autoantibodies were detected in 29/92 patients (31.5%), with multiple positivity observed in 6/29 cases. The APE2 score (median 5, range 1-15) significantly correlated with antibody positivity (p=0.014), especially for the presence of neuropsychiatric symptoms (p<0.01), movement disorders (p<0.01), dysautonomia (p=0.03), faciobrachial dyskinesias (p=0.03) and cancer history (p<0.01). Status epilepticus was significantly more frequent in antibody-negative patients (p<0.01). Among the items of the RITE2 score, early initiation of immunotherapy correlated with a good treatment response (p=0.001), whereas a cancer history was significantly more common among non-responders (p<0.01). Persistence of neuropsychiatric symptoms and seizures correlated with antiepileptic maintenance after at least 1 year., Conclusions: This is the first study that independently validates the APE2 and RITE2 scores and includes the largest cohort of patients whose paired serum and CSF samples have been tested for autoantibodies possibly associated with autoimmune epilepsy., Competing Interests: Competing interests: SB, RD, GC, FM, GZ, TZ, MT, GV, MC, FarR, LDT, CZ, GTM, FS, FrR, ET, SalM and RH: report no disclosures. SF received support for attending scientific meetings by Shire, Sanofi Genzyme and Euroimmun. SarM received support for attending scientific meetings by Merck and Euroimmun and received speaker honoraria from Biogen., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Scapular dyskinesis (SD) has been associated with shoulder soft-tissue tightness as well scapular muscle strength and/or activation deficits. Inadequate development of the trapezius muscle (trapezius dysplasia) is a relatively rare condition inconsistently associated with shoulder dysfunction., Case Description: a 24-year old male complaining of left scapular area pain associated with SD and scapular muscle weakness was noted to present with a smaller ipsilateral lower trapezius (LT). Further inquiry including electromyography, rehabilitative ultrasound imaging (RUSI) and magnetic resonance imaging ruled out nerve palsy and demonstrated a hypoplastic left LT. This led to a greater emphasis on serratus anterior (SA) training along with the addition of neuromuscular electrical stimulation of the LT., Outcomes: Following 12 sessions over a 5-month period the patient reported no pain or functional deficits, and was able to resume all recreational activities. The patient's subjective shoulder value increased from 55% to 80%, and LT strength was markedly improved., Discussion: Scapular muscle dysplasia may represent a less recognized cause of SD. A more thorough inspection of scapular muscle shape and orientation, possibly augmented by RUSI may be indicated in patients presenting with SD. Neuromuscular electrical stimulation is a potentially useful modality for addressing scapular muscle activation and strength deficits and future research into its efficacy under these circumstances may be warranted., Competing Interests: Declaration of competing interest None., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Objective: To determine the construct validity, criterion validity, and responsiveness of measurement instruments evaluating scapular function., Design: Systematic review of measurement properties., Literature Search: The MEDLINE, Embase, CINAHL, and SPORTDiscus databases were systematically searched from inception until March 2019., Study Selection Criteria: Studies published in Dutch, English, or German were included when they evaluated at least 1 of the measurement properties of interest. No restrictions were made regarding participants' health status., Data Synthesis: Two reviewers independently evaluated study quality using the COSMIN checklist and extracted and analyzed data. Quality of evidence was graded by measurement property for each distinctive type of measurement., Results: Thirty-one measurement instruments in 14 studies were categorized into instruments to measure scapular posture and movement, and to assess scapular dyskinesis. Quality of evidence was at most moderate for 4 instruments with respect to criterion validity. Of these, criterion validity for instruments measuring scapular protraction/retraction posture and rotation angles up to 120° of thoracohumeral elevation was sufficient. Criterion validity for instruments measuring asymmetrical scapular posture, range of motion, and the lateral scapular slide test was insufficient. Quality of evidence for measurement properties of all other instruments was graded lower., Conclusion: There is currently insufficient evidence to recommend any instrument for the clinical examination of scapular function. Measurement instruments to assess scapular dyskinesis are prone to misinterpretation and should therefore not be used as such. J Orthop Sports Phys Ther 2020;50(11):632-641. doi:10.2519/jospt.2020.9265 .

Aim: To evaluate pain prevalence and characteristics in children and adolescents with predominant dyskinetic and mixed (dyskinetic/spastic) cerebral palsy (CP) motor types., Method: Seventy-five participants with a diagnosis of CP and confirmed dyskinetic or mixed (dyskinetic/spastic) motor type took part in a multisite cross-sectional study. The primary outcome was carer-reported pain prevalence (preceding 2wks) measured using the Health Utilities Index-3. Secondary outcomes were chronicity, intensity, body locations, quality of life, and activity impact., Results: Mean participant age was 10 years 11 months (SD 4y 2mo, range 5-18y). There were 44 males and 31 females and 37 (49%) had predominant dyskinetic CP. Pain was prevalent in 85% and it was chronic in 77% of participants. Fifty-two per cent experienced moderate-to-high carer-reported pain intensity, which was significantly associated with predominant dyskinetic motor types (p=0.008). Pain occurred at multiple body locations (5 out of 21), with significantly increased numbers of locations at higher Gross Motor Function Classification System levels (p=0.02). Face, jaw, and temple pain was significantly associated with predominant dyskinetic motor types (p=0.005). Poorer carer proxy-reported quality of life was detected in those with chronic pain compared to those without (p=0.03); however, chronic pain did not affect quality of life for self-reporting participants., Interpretation: Pain was highly prevalent in children and adolescents with predominant dyskinetic and mixed (dyskinetic/spastic) motor types, highlighting a population in need of lifespan pain management., What This Paper Adds: Chronic pain prevalence in children and adolescents with predominant dyskinetic and mixed (dyskinetic/spastic) motor types is high. Pain occurs across multiple body locations in predominant dyskinetic and mixed (dyskinetic/spastic) motor types. Less recognized locations of pain include the face, jaw, and temple for predominant dyskinetic motor types., (© 2020 Mac Keith Press.)

Objective: The aim of the study was to assess the activation profile of scapular stabilizing muscles in dyskinetic asymptomatic people., Design: This is a noninterventional observational study. Two groups of 20 people were included in the study. The first group involved asymptomatic athletes with scapular dyskinesis. The second one included athletes without scapular dysfunction. Muscle activation of upper trapezius, lower trapezius, and serratus anterior were recorded by a surface electromyography during shoulder flexion and shoulder abduction, in unloaded and loaded conditions., Results: A significant increase of the activity of the upper trapezius (between 23% and 31%) and a significant decrease of the activity of the lower trapezius (between 32% and 65%) were observed in the dyskinetic group in comparison with the nondyskinetic group in asymptomatic athletes. A significant increase between 17% and 31% of the activity of the serratus anterior was also observed in dyskinetic people. Likewise, a significant increase approximately 24%-61% and 23%-70% was noted respectively in upper trapezius/lower trapezius and upper trapezius/serratus anterior ratio's in the dyskinetic group., Conclusions: An alteration of periscapular muscular activation exists in dyskinetic asymptomatic people. Future studies will be needed to know whether those alterations increase the risk of shoulder injuries.

Levodopa is the most effective medication for the treatment of the motor symptoms of Parkinson's disease. However, over time, the clinical response to levodopa becomes complicated by a reduction in the duration and reliability of motor improvement (motor fluctuations) and the emergence of involuntary movements (levodopa-induced dyskinesia). Strategies that have been attempted in an effort to delay the development of these motor complications include levodopa sparing and continuous dopaminergic therapy. Once motor complications occur, a wide array of medical treatments is available to maximize motor function through the day while limiting dyskinesia. Here, we review the clinical features, epidemiology, and risk factors for the development of motor complications, as well as strategies for their prevention and medical management.