Motor intentional disorders

Decreased cholinergic binding within the recently identified centro-cingulate brain network robustly has been shown to robustly correlate with the severity of cognitive impairment in Parkinson disease (PD). This network with key hubs within the cingulum, operculum and peri-central cortical regions also correlates with elements of parkinsonian motor impairments, including postural instability and gait difficulties, such as falls or freezing. MRI neuroimaging studies have shown that the anterior midcingulate cortex is a key node for cognitive aspects of movement generation, i...

Biallelic variants in the Golgi SNAP receptor complex member 2 gene ( GOSR2 ) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2 -related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c...

BACKGROUND AND OBJECTIVE: For patients with movement disorders, the main clinical focus is on exercise rehabilitation to help recover lost motor function, which is achieved by relevant assisted equipment. The basis for seamless control of the assisted equipment is to achieve accurate inference of the user's movement intentions in the human-machine interface. This study proposed a novel movement intention detection technology for estimating lower limb joint continuous kinematic variables following muscle synergy patterns, to develop applications for more efficient assisted rehabilitation training...

OBJECTIVE: Disruption of frontostriatal pathways underlies working memory and executive function impairments in Parkinson's disease (PD), including theory of mind (ToM). PD symptoms appear on one side and remain lateralized, suggesting greater dysfunction in the contralateral basal ganglia. Previous studies have suggested the right hemisphere, particularly right frontal lobe, has greater involvement in ToM processing. We hypothesized PD subjects with left hemi-motor symptoms, indicating right hemisphere involvement, would show greater deficits on a ToM task...

In patients with movement disorders, voluntary movements can sometimes be accompanied by unintentional muscle contractions in other body regions. In this review, we discuss clinical and pathophysiological aspects of several motor phenomena including mirror movements, dystonic overflow, synkinesia, entrainment and mirror dystonia, focusing on their similarities and differences. These phenomena share some common clinical and pathophysiological features, which often leads to confusion in their definition. However, they differ in several aspects, such as the body part showing the undesired movement, the type of this movement (identical or not to the intentional movement), the underlying neurological condition, and the role of primary motor areas, descending pathways and inhibitory circuits involved, suggesting that these are distinct phenomena...

BACKGROUND: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by motor and phonic tics. OBJECTIVE: To assess the safety and efficacy of deutetrabenazine (Teva Neuroscience, Inc, Parsippany, NJ), a vesicular monoamine transporter 2 inhibitor, in children and adolescents with TS. METHODS: Alternatives for Reducing Tics in TS (ARTISTS) open-label extension (OLE) (NCT03567291) was a 54-week, global, phase 3, open-label extension study of deutetrabenazine (6-48 mg daily) conducted May 28, 2018 to April 3, 2020 with a 2-week randomized withdrawal period...

Sense of agency (SoA) indicates a person's ability to perceive her/his own motor acts as actually being her/his and, through them, to exert control over the course of external events. Disruptions in SoA may profoundly affect the individual's functioning, as observed in several neuropsychiatric disorders. This is the first article to systematically review studies that investigated intentional binding (IB), a quantitative proxy for SoA measurement, in neurological and psychiatric patients. Eligible were studies of IB involving patients with neurological and/or psychiatric disorders...

BACKGROUND: Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases. CASE PRESENTATION: Whole exome sequencing was performed for a 21-month-old girl suffering from developmental delay specifically in motor and language aspects, hypotonia, nystagmus, pes planus and strabismus...

BACKGROUND: Drug repurposing could provide novel treatment options for Duchenne muscular dystrophy. Because tamoxifen-an oestrogen receptor regulator-reduced signs of muscular pathology in a Duchenne muscular dystrophy mouse model, we aimed to assess the safety and efficacy of tamoxifen in humans as an adjunct to corticosteroid therapy over a period of 48 weeks. METHODS: We did a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 12 study centres in seven European countries...

Symptom provocation is a well-established component of psychiatric research and therapy. It is hypothesized that specific activation of those brain circuits involved in the symptomatic expression of a brain pathology makes the relevant neural substrate accessible as a target for therapeutic interventions. For example, in the treatment of obsessive-compulsive disorder (OCD), symptom provocation is an important part of psychotherapy and is also performed prior to therapeutic brain stimulation with transcranial magnetic stimulation (TMS)...

Utilizing technology to precisely quantify Parkinson's disease motor symptoms has evolved over the past 50 years from single point in time assessments using traditional biomechanical approaches to continuous monitoring of performance with wearables. Despite advances in the precision, usability, availability and affordability of technology, the "gold standard" for assessing Parkinson's motor symptoms continues to be a subjective clinical assessment as none of these technologies have been fully integrated into routine clinical care of Parkinson's disease patients...

Essential tremor (ET) is a chronic and progressive neurologic disease. Its central and defining clinical feature is a 4-12Hz kinetic tremor, that is, tremor that occurs during voluntary movements such as drinking from a cup or writing. Patients may also exhibit a range of other tremors-postural, rest, intention, additional motor features (e.g., mild gait ataxia, mild dystonia), as well as nonmotor features. The disease itself seems to be a risk factor for other degenerative diseases such as Alzheimer's disease and Parkinson's disease...

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause difficulty with communication and social interactions as well as complicated family dynamics. Digital health interventions can reduce treatment costs and promote healthy lifestyle changes. These therapies can be adjunctive or replace traditional treatments. However, issues with cooperation and compliance prevent preschool patients with ASD from applying these tools. In this open-label, randomized controlled trial, we developed a nonwearable digital therapy called virtual reality-incorporated cognitive behavioral therapy (VR-CBT)...

BACKGROUND: To determine if low-frequency repetitive transcranial magnetic stimulation targeting the primary motor cortex contralateral (M1CL ) to the affected corticospinal tract in patients with hemiparetic stroke augments intensive training-related clinical improvement; an extension of the NICHE trial (Navigated Inhibitory rTMS to Contralesional Hemisphere Trial) using an alternative sham coil. METHODS: The present E-FIT trial (Electric Field Navigated 1Hz rTMS for Post-stroke Motor Recovery Trial) included 5 of 12 NICHE trial outpatient US rehabilitation centers...

BACKGROUND: Injuries are the leading cause of death and disability in preschool children who are subject to specific risk factors. We sought to clarify the determinants of unintentional injuries in children aged 5 years and under in high-income countries and report on the methodological quality of the selected studies. METHODS: A systematic review was conducted of observational studies investigating determinants of unintentional injury in children aged 0-5...

This study presents a data-driven approach to identifying interpersonal motor synchrony states by analyzing hand movements captured from a 3D depth camera. Utilizing a single frame from the experiment, an XGBoost machine learning model was employed to differentiate between spontaneous and intentional synchrony modes with nearly [Formula: see text] accuracy. Our findings demonstrate a consistent pattern across subjects, revealing that movement velocity tends to be slower in synchrony modes. These insights support the notion that the relationship between velocity and synchrony is influenced by the cognitive load required for the task, with slower movements leading to higher synchrony in tasks demanding higher cognitive load...

Comprehensive behavioral intervention for tics (CBIT) administered individually is an effective treatment for tics. However, the effectiveness of CBIT administered in groups for adults with Tourette syndrome and chronic tic disorders has not been investigated yet. This pilot study examined the effectiveness of group-based CBIT with respect to reduction of tic severity and tic-related impairment, as well as improvement of tic-related quality of life. Data from 26 patients were included in the intention-to-treat analyses...

Parkinson's disease (PD) is a debilitating neurological disorder characterized by progressively worsening motor dysfunction. Currently, available therapies merely alleviate symptoms, and there are no cures. Consequently, some researchers have now shifted their attention to identifying the modifiable risk factors of PD, with the intention of possibly implementing early interventions to prevent the development of PD. Four primary risk factors for PD are discussed including environmental factors (pesticides and heavy metals), lifestyle (physical activity and dietary intake), drug abuse, and individual comorbidities...

INTRODUCTION: Freezing of gait (FoG) is a debilitating symptom of advanced Parkinson's disease (PD) characterized by a sudden, episodic stepping arrest despite the intention to continue walking. The etiology of FoG is still unknown, but accumulating evidence unraveled physiological signatures of the autonomic nervous system (ANS) around FoG episodes. Here we aim to investigate for the first time whether detecting a predisposition for upcoming FoG events from ANS activity measured at rest is possible...

BACKGROUND: Mirror movements are involuntary movements of one hand that mirror intentional movements of the other hand. Congenital mirror movements (CMM) is a rare genetic disorder with autosomal dominant inheritance, in which mirror movements are the main neurological manifestation. CMM is associated with an abnormal decussation of the corticospinal tract, a major motor tract for voluntary movements. RAD51 is known to play a key role in homologous recombination with a critical function in DNA repair...