Science topic

Movement Disorders - Science topic

Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
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Publications related to Movement Disorders (10,000)
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Article
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We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction of the orbicularis oris muscles. Consequently, her cheeks were passively inflated by expiration without exit. When the dystonic attack persisted, she developed cyanosis but recovered immediat...
Article
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Cerebral palsy (CP) is a developmental disorder, characterized by movement disorders that appear in early childhood. Children with CP experience poor motor coordination and have problems with sensation, vision, hearing, swallowing and speaking. A qualitative study was conducted at Mutale Municipality to ascertain the challenges faced by mothers wit...
Article
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Background Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention. Methods A retro...
Article
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Objective The Hybrid Assistive Limb (HAL) has recently been used to treat movement disorders. Although studies have shown its effectiveness for chronic myelopathy, the immediate effects of HAL gait training on lower limb function have not been clarified. We conducted HAL gait training and examined its immediate effects on a 69-year-old man with re-...
Article
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Background Parkinson’s disease (PD) is a progressive, neurodegenerative disorder. In the advanced stages it can result in severe disability despite optimal treatment. Data suggests heterogeneous classification of PD stages among physicians in different countries. The purpose of the OBSERVE-PD study was to evaluate the proportion of patients with ad...
Article
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The progression of Parkinson’s disease (PD) is often accompanied by the loss of substantia nigra dopaminergic neurons, mitophagy damage, learning, and memory impairment. Idebenone is a therapeutic drug that targets the mitochondria of neurodegenerative diseases, but its role in Parkinson’s disease and its pathological mechanism are still unclear. T...
Article
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Background Advances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs. By this, we aimed at raising awareness about such rare disorders, especially in our region. Over the past 3 years, we reviewed the...
Article
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Background The loss of dopamine neurons in the substantia nigra, as well as other mostly catecholaminergic neurons, causes many of the motor symptoms that define Parkinson's disease. Parkinson's disease is commonly thought of as a movement disorder, the significant prevalence of psychiatric complications such as cognitive impairment, and psychosis...
Article
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Neuronal ceroid lipofuscinosis type 1(CLN1 disease) is a rare autosomal recessive lysosomal storage disease caused by genetic defects of palmitoyl protein thioesterase-1(PPT1), leading to accumulation of lipofuscin granules in brain and progressive neurodegeneration. Psychomotor regression, seizures, loss of vision, and movement disorder begin in i...
Article
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Background SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective rev...
Article
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Background Hemifacial spasm is a rare movement disorder. Prevalence estimates worldwide was 14.5 per 100,000 women and 7.4 per 100,000 men. Hemifacial spasm generally caused by compression of blood vessels at the root entry zone of the facial nerve in the brainstem, tortuous anteroinferior cerebellar artery (AICA) and posteroinferior cerebellar art...
Article
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Background The natural history and genotype–phenotype correlation of Pelizaeus–Merzbacher disease (PMD) of Chinese patients has been rarely reported. Method Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiplex ligation probe amplification (MLPA) and Sanger or whole-exome sequencing (WES). Na...
Article
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Background Parkinson’s disease (PD) is a prevalent and debilitating condition. Conventional medications cannot control all symptoms and may inflict adverse effects. A survey reported that Chinese herbal medicine (CHM) is frequently sought. Existing CHM trials were contradictory and often of poor quality due to lack of methodological rigor. A nation...
Article
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Parkinson’s disease (PD) is a common, progressive, and currently incurable neurodegenerative movement disorder. The diagnosis of PD is challenging, especially in the differential diagnosis of parkinsonism and in early PD detection. Due to the advantages of machine learning such as learning complex data patterns and making inferences for individuals...
Article
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Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel vari...
Article
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Background Since it first started operating in 2017, the European Reference Network for Rare Neurological Diseases (ERN-RND) implemented a multi-channel communication strategy to effectively reach its target audience: healthcare professionals, patients, researchers, industry representatives and the general public. We first created a website contain...
Article
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Background Tauopathies are a class of neurodegenerative disorders characterized by neuronal and/or glial tau-positive inclusions. Main body Clinically, tauopathies can present with a range of phenotypes that include cognitive/behavioral-disorders, movement disorders, language disorders and non-specific amnestic symptoms in advanced age. Pathologic...
Article
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Parkinson’s disease (PD) is the most common age-related movement disorder characterized by the progressive loss of nigrostriatal dopaminergic neurons. To date, PD treatment strategies are mostly based on dopamine replacement medicines, which can alleviate motor symptoms but do not slow down the progression of neurodegeneration. Thus, there is a nee...
Article
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Background Since both essential tremor (ET) and Parkinson’s disease (PD) are movement disorders and share similar clinical symptoms, it is very difficult to recognize the differences in the presentation, course, and treatment of ET and PD, which leads to misdiagnosed commonly. Purpose Although neuroimaging biomarker of ET and PD has been investiga...
Article
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Background: Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of HSP can extend to include other neurologic features, including movement disorders. Our aim was to investigate genotype-phenotype associations in HSP with a focus on moveme...
Article
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Generation of motor neurons (MNs) from human-induced pluripotent stem cells (hiPSCs) overcomes the limited access to human brain tissues and provides an unprecedent approach for modeling MN-related diseases. In this review, we discuss the recent progression in understanding the regulatory mechanisms of MN differentiation and their applications in t...
Article
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Background Equistasi ® is a vibrotactile device composed of nanotechnology fibers that converts temperature change into mechanical energy by self-producing a focal vibration. It is used in non-pharmacological rehabilitation in patients with movement disorders and multiple sclerosis sequelae. Nonetheless, the mechanism underlying such an improvement...
Article
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Background: One major thrust in radiology today is image standardization with a focus on rapid, quantitative, multi-contrast data collection and processing. Methods: Strategically acquired gradient echo (STAGE) imaging1-4 is one such method that uses multiple flip angles and multiple echo times. It can provide 8 qualitative and 7 quantitative imag...
Article
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Background Periodic leg movement disorder is defined as periodic episodes of repetitive limb movements during sleep that mainly occurs in the lower limb, including the hips, knees, and toes, and sometimes affects the upper limb. It may be accompanied by frequent nocturnal arousals, and if so, this sleep disturbance may cause excessive daytime sleep...
Preprint
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Introduction Parkinson’s Disease (PD) is a neurodegenerative movement disorder that is typically diagnosed clinically. DaT-SPECT scanning (DaT Scan) can be used when there is diagnostic difficulty differentiating from non-neurodegenerative Parkinsonism. This study assessed the effect of DaT Scan imaging on diagnosis and subsequent clinical manageme...
Article
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Parkinson’s disease (PD), the fastest-growing movement disorder, is still challenged by the unavailability of disease-modifying therapy. Mildly elevated levels of unconjugated bilirubin (UCB, PubChem CID 5280352) have been shown to be protective against several extra-CNS diseases, and the effect is attributed to its well-known anti-oxidant and anti...
Article
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Background Overlap syndromes of anti-NMDA receptor encephalitis and MOG-mediated demyelination have been reported. In this case we provide a long-term longitudinal follow-up of clinical and imaging characteristics as well as of antibody dynamics. Case presentation We report a 32-year-old male patient who presented with psychosis, decreased conscio...
Article
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Purpose of Review The past 3 years have seen an unprecedented increase in patients with functional tic-like behaviors (FTLB), a previously rare form of functional movement disorder (FMD) that can be mistaken for Tourette syndrome (TS). This article contrasts the patient characteristics, phenomenology, risk factors, and comorbidities of FTLB and TS...
Preprint
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There have been reports of neurodegenerative diseases including Parkinsonism, Alzheimer's disease and Creutzfeldt Jakob disease following COVID-19. The exact pathogenesis of these has not been elucidated yet though authors have proposed the possibility of the hyper-inflammatory state of COVID-19 acting as a trigger through cytokine-induced inflamma...
Preprint
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Diabetic striatopathy (DS) can be a reversible emergency with a good prognosis when diagnosed and treated timely. However, patients with diabetic striatopathy are easily misdiagnosed mainly due to its rarity and most physicians’ unfamiliarity. Therefore, we conducted this study to reveal the clinical-radiographic features of diabetic striatopathy a...
Article
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Speech impairment analysis and processing technologies have evolved substantially in recent years, and the use of voice as a biomarker has gained popularity. We have developed an approach for clinical speech signal processing to demonstrate the promise of deep learning-driven voice analysis as a screening tool for Parkinson’s Disease (PD), the worl...
Preprint
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Genetic factors play a major role in essential tremor (ET) pathogenesis. This study aimed to assess variant burden in ET associated genes in a relatively large Chinese population cohort. We genotyped 27 single-nucleotide polymorphisms (SNPs) previously reported to be associated with ET using the MassARRAY System in 488 familial and sporadic ET pati...
Article
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Background Increasing evidence suggests that early-onset Parkinson’s disease (EOPD) is heterogeneous in its clinical presentation and progression. Defining subtypes of EOPD is needed to better understand underlying mechanisms, predict disease course, and eventually design more efficient personalized management strategies. Objective To identify cli...
Preprint
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Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare and devastating disease caused by pathogenic mutations in C19orf12 gene. MPAN is characterized by pathological iron accumulation in the brain and fewer than 100 cases of MPAN have been described. Although the diagnosis of MPAN has achieved a great breakthrough...
Article
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Patients with psychotic disorders have increased rates of medical comorbidities. In this cross-sectional study, we investigated the relationship between antipsychotics and medical comorbidities among patients with psychotic disorders in an urban psychiatry clinic in Atlanta, Georgia (n = 860). Each antipsychotic group was compared to a group of pat...
Article
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Schizophrenia is a mental disorder characterized by episodes of psychosis; major symptoms include hallucinations, delusions, and disorganized thinking. More recent theories focus on particular disorders of interneurons, dysfunctions in the immune system, abnormalities in the formation of myelin, and augmented oxidative stress that lead to alteratio...
Preprint
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Objective The Globus Pallidus pars interna (GPi) is one of the main targets for Deep Brain Stimulation (DBS) therapies for dystonia and other movement disorders. Still, a complete picture of the spiking dynamics of the nucleus is far from being achieved. Microelectrode recordings (MER) provide a unique brain window opportunity to shed light on GPi...
Article
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Background Parkinson disease (PD) is a progressive condition that causes disorders in movement and balance. Objective To evaluate the effectiveness of static posturography-assisted biofeedback exercises in PD-related balance disorder. Methods We screened 83 patients, 48 of whom were enrolled, and 41 completed the study. The sample was randomized in...
Article
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Complicated Hereditary Spastic Paraparesis (HSP) is a group of heterogenous neurodegenerative disease characterized by progressive spastic paraparesis with additional features like cognitive impairment, seizures, movement disorders, visual loss, deafness, peripheral neuropathy, and pes cavus. There have been few case series reported in literature f...
Preprint
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FINCA syndrome is an autosomal recessive inherited multisystemic disorder characterized by pulmonary fibrosis, neurodegeneration and cerebral angiomatosis. So far, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected at least on one allele. Commo...
Article
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Dengue is a mosquito-borne viral disease caused by one of four dengue virus serotypes. The clinical symptoms caused by this infection are varied. In this context, neurological manifestations affect almost one of every five dengue virus-infected patients. When we specifically analyze movement disorders, it is believed that more than 10% of the patie...
Article
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Parkinson's disease (PD) is a movement disorder characterized by neuroinflammation, α-synuclein pathology, and neurodegeneration. Most cases of PD are non-hereditary, suggesting a strong role for environmental factors, and it has been speculated that disease may originate in peripheral tissues such as the gastrointestinal (GI) tract before affectin...
Article
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Multiple system atrophy (MSA) is a rapidly progressing neurodegenerative disorder of uncertain etiology that is characterized by various combinations of Parkinsonism, autonomic, cerebellar and motor dysfunctions, with poor prognosis. Little is known about modifiable factors, such as depression, that has negative effects on quality of life in MSA. D...
Preprint
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Background Gait impairment is a common and disabling motor symptom in Parkinson’s disease (PD), deteriorated gait parameters have showed in both single-task (ST) and dual-task (DT) conditions. The aim of this study was to investigate the effects of different motor-cognitive and motor-motor DTs on gait and the correlation between gait speed and clin...
Article
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Background Inpatient as well as outpatient care does often not meet PD-patients’ individual needs. Introduction Day-clinic concepts encompassing a multidisciplinary team as well as therapy adjustments accompanying everyday demands aim at filling this gap. Methods This is a retrospective study on short-term effects of a 3 week multidisciplinary re...
Presentation
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Background: A digital therapy system for children and adolescents with movement disorders (GAMO; reFit Systems, Munich, Germany), based on a 3D camera, can be used for therapy but also for assessments such as measurement of balance. The integrated balance measurement has already been validated for use in healthy children (Heidt et al; Gait & Postur...
Poster
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Description of the development of a serious gaming system specifically for therapy of children with movement disorders
Article
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Background Delayed aneurysm rupture after flow-redirection endoluminal device (FRED) implantation is rare. We report a case of internal carotid-cavernous fistula (CCF) caused by a delayed aneurysm rupture of the cavernous portion of the internal carotid artery (ICA) after FRED implantation. Case Description A 75-year-old woman had a gradually enla...
Article
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Auditory entrainment of motor function is a fundamental tool in neurologic music therapy with many studies demonstrating improved clinical outcomes in people with movement disorders such as Parkinson’s Disease, acquired brain injuries, and stroke. However, the specific mechanisms of action within neural networks and cortical regions that are arouse...
Article
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Neural stem cells (NSCs) are immature progenitor cells that are found in developing and adult brains that have the potential of dividing actively and renewing themselves, with a complex form of gene expression. The generation of new brain cells in adult individuals was initially considered impossible, however, the landmark discovery of human neural...
Article
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Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders. Diagnosis is suspected based on clinical manifestations and a low glucose level in cerebrospinal fluid,and s...
Article
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Background As a group, individuals with functional neurological disorder (FND) report an approximately 3-fold increase in adverse life experiences (ALEs) compared to healthy controls. In patients with FND, studies have identified a positive correlation between symptom severity and the magnitude of ALEs. While not all individuals with FND report ALE...
Article
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POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6‐year‐old boy associated with striatum involvement in the brain MRI. A new presentation of POLR3A ge...
Article
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Introduction Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is effective for the treatment of Parkinson's disease (PD). Moreover, remote programming is widely used in Mainland China. This necessitates evaluating the ability of remote programming to achieve the ideal postoperative effect. Therefore, we aimed to retrospectively evaluat...
Article
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Dyskinesia limited only to the axial musculature is very rare, and if it is localized to the anterior abdominal wall, it is called belly dancer's dyskinesia. Despite reports of variable clinical characteristics, a common feature is a myriad of involuntary, repetitive, sometimes painful, and often rhythmic movements of the anterior abdominal wall, w...
Article
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Objectives Parkinson's disease (PD) is a neurodegenerative disease in which patients are suffering various symptoms. Previous experimental studies suggested that herbal medicine Ukgansan (UGS) could be beneficial for PD. The aim of this pilot clinical trial was to evaluate the efficacy of UGS for improving clinical symptoms in patients with PD. Me...
Article
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Background Anti- N -methyl- D -aspartate receptor (NMDAR) encephalitis accounts for the vast majority of cases of autoimmune encephalitis. Its common clinical symptoms are psychiatric symptoms, behavioral dysfunction, seizures, speech impairment, cognitive impairment, movement disorders, decreased consciousness, and autonomic instability. This repo...
Article
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Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis...