movements disorders

INTRODUCTION: Anosognosia, defined as reduced awareness of one's deficit or symptom, is common in Huntington's disease (HD) and detectable at each disease stage. The impact of anosognosia on self-reporting in HD populations is critical to understand given growing use of patient-reported outcomes in HD clinical care and research. We aimed to determine the influence of anosognosia on patient-reported outcome measures assessing psychiatric symptoms and quality of life in HD. METHODS: We enrolled HD patients to complete a battery of patient-reported and rater-administered measures, including the Anosognosia Scale, at baseline and 6 months later...

INTRODUCTION: Impaired upper limb movements are a key feature in dyskinetic cerebral palsy (CP). However, information on how specific movement patterns relate to manual ability, performance and underlying movement disorders is lacking. Insight in these associations may contribute to targeted upper limb management in dyskinetic CP. This study aimed to explore associations between deviant upper limb movement patterns and (1) manual ability, (2) severity of dystonia/choreoathetosis, and (3) movement time/trajectory deviation during reaching and grasping...

BACKGROUND AND OBJECTIVE: Gait disorders stemming from brain lesions or chemical imbalances, pose significant challenges for patients. Proposed treatments encompass medication, deep brain stimulation, physiotherapy, and visual stimulation. Music, with its harmonious structures, serves as a continuous reference, synchronizing muscle activities through neural connections between hearing and motor functions, can show promise in gait disorder management. This study explores the influence of heightened music rhythm on young healthy participants' gait cadence in three conditions: FeedForward (independent rhythm), FeedBack (cadence-synced rhythm), and Adaptive (cadence-controlled musical experience)...

Male infertility is a significant factor in approximately half of all infertility cases and is marked by a decreased sperm count and motility. A decreased sperm count is caused by not only a decreased production of sperm but also decreased numbers successfully passing through the male reproductive tract. Smooth muscle movement may play an important role in sperm transport in the male reproductive tract; thus, understanding the mechanism of this movement is necessary to elucidate the cause of sperm transport disorder...

In patients with autoimmune disorders such as rheumatoid arthritis (RA), delayed wound healing is often observed. Timely and effective wound healing is a crucial determinant of a patient's quality of life, and novel materials for skin wound repair, such as bioactive peptides, are continuously being studied and developed. One such bioactive peptide, AESIS-1, has been studied for its well-established anti-rheumatoid arthritis properties. In this study, we attempted to use the anti-RA material AESIS-1 as a therapeutic wound-healing agent based on disease-modifying antirheumatic drugs (DMARDs), which can help restore prompt wound healing...

Background : Depression is common in patients with Parkinson's disease (PD) and significantly impacts both the patients and their caregivers. The associations between depression and the responses from commonly used questionnaires for PD patients were assessed. New patients presenting to the Movement Disorder Center completed a number of questionnaires, including assessments of the motor and non-motor symptoms of PD, including depression. Methods : The PD patients were grouped according to severity of depression: none, mild, and moderate-severe, based on the Geriatric Depression Scale (GDS) scores...

Background : The main aim of this cross-sectional study was to compare the occurrence and severity of cervical spine pain in young adults diagnosed with TMDs with a healthy control group (without TMDs). Methods : The study was conducted from June to July 2023. Inclusion criteria were age (18-30 years), cervical spine pain (for at least 1 month), and consent to participate in the study. The study was conducted based on RDC/TMD protocol, an original questionnaire, and a physiotherapeutic examination focused on detecting TMDs...

As an essential lower-back movement pattern, lumbo-pelvic rhythm (LPR) during forward trunk flexion and backward return has been investigated on a large scale. It has been suggested that abnormalities in lumbo-pelvic coordination are related to the risk of developing low back disorders. However, considerable differences in the approaches used to monitor LPR make it challenging to integrate findings from those investigations for future research. Therefore, the aim of this systematic review was to summarize the use of wearable technology for kinematic measurement with sensory biofeedback for LPR monitoring by assessing these technologies' specific capabilities and biofeedback capacities and exploring their practical viability based on sensor outcomes...

OBJECTIVES: X-linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in matched controls undergoing similar orthodontic procedures. MATERIALS AND METHODS: For this retrospective case-control study, we included all individuals less than 16 years old diagnosed with XLH, orthodontically treated in our centre from 2016 to 2022 and pair-matched them to patients with no chronic or genetic conditions...

BACKGROUND: The GPNMB single-nucleotide polymorphism rs199347 and GBA1 variants both associate with Lewy body disorder (LBD) risk. GPNMB encodes glycoprotein nonmetastatic melanoma protein B (GPNMB), a biomarker for GBA1-associated Gaucher's disease. OBJECTIVE: The aim of this study was to determine whether GPNMB levels (1) differ in LBD with and without GBA1 variants and (2) associate with rs199347 genotype. METHODS: We quantified GPNMB levels in plasma and cerebrospinal fluid (CSF) from 124 individuals with LBD with one GBA1 variant (121 plasma, 14 CSF), 631 individuals with LBD without GBA1 variants (626 plasma, 41 CSF), 9 neurologically normal individuals with one GBA1 variant (plasma), and 2 individuals with two GBA1 variants (plasma)...

BACKGROUND: Quantitative 3D movement analysis using inertial measurement units (IMUs) allows for a more detailed characterization of motor patterns than clinical assessment alone. It is essential to discriminate between gait features that are responsive or unresponsive to current therapies to better understand the underlying pathophysiological basis and identify potential therapeutic strategies. OBJECTIVES: This study aims to characterize the responsiveness and temporal evolution of different gait subcomponents in Parkinson's disease (PD) patients in their OFF and various ON states following levodopa administration, utilizing both wearable sensors and the gold-standard MDS-UPDRS motor part III...

Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also been established that it is one of the most frequent causes of LOCA...

To explore the minds of others, which is traditionally referred to as Theory of Mind (ToM), is perhaps the most fundamental ability of humans as social beings. Impairments in ToM could lead to difficulties or even deficits in social interaction. The present study focuses on two core components of ToM, the ability to infer others' beliefs and the ability to infer others' emotions, which we refer to as cognitive and affective ToM respectively. Charting both typical and atypical trajectories underlying the cognitive-affective ToM promises to shed light on the precision identification of mental disorders, such as depressive disorders (DD) and autism spectrum disorder (ASD)...

INTRODUCTION: Balance dysfunction is a debilitating feature of advanced Parkinson's disease (PD), potentially improved by deep brain stimulation (DBS). This systematic review and meta-analysis pooled evidence from randomized controlled trials (RCT) on DBS effectiveness in improving balance in PD. METHODS: A systematic search was conducted to identify eligible RCTs investigating the effectiveness of DBS on improving balance in people with PD. Meta-analysis was performed using random effects models and reported as mean difference and 95% confidence intervals...

Sign languages (SLs) are expressed through different bodily actions, ranging from re-enactment of physical events (constructed action, CA) to sequences of lexical signs with internal structure (plain telling, PT). Despite the prevalence of CA in signed interactions and its significance for SL comprehension, its neural dynamics remain unexplored. We examined the processing of different types of CA (subtle, reduced, and overt) and PT in 35 adult deaf or hearing native signers. The electroencephalographic-based processing of signed sentences with incongruent targets was recorded...

Parkinson's disease (PD) is a neurodegenerative disorder that is clinically assessed by motor symptoms associated with the loss of midbrain dopaminergic neurons affecting the quality of life for over 8.5 million people worldwide. The neurotoxin 6-hydroxydopamine (6-OHDA) has been used to chemically induce a PD-like state in zebrafish larvae by several laboratories; however, highly variable concentration, methodology, and reagents have resulted in conflicting results suggesting a need to investigate these issues of reproducibility...

INTRODUCTION: Restless Legs Syndrome (RLS) is a widely prevalent and complex neurological disorder. Despite notable advancements in managing RLS, the disorder continues to face challenges related to its recognition and management. OBJECTIVE: This study seeks to gain comprehensive insights into the knowledge and clinical practices among Italian neurologists regarding RLS diagnosis, management, and treatment, comparing approaches among general neurologists, movement disorder specialists, and sleep experts...

Neurodegenerative diseases are chronic conditions occurring when neurons die in specific brain regions that lead to loss of movement or cognitive functions. Despite the progress in understanding the mechanisms of this pathology, currently no cure exists to treat these types of diseases: for some of them the only help is alleviating the associated symptoms. Mitochondrial dysfunction has been shown to be involved in the pathogenesis of most the neurodegenerative disorders. The fast and transient permeability of mitochondria (the mitochondrial permeability transition, mPT) has been shown to be an initial step in the mechanism of apoptotic and necrotic cell death, which acts as a regulator of tissue regeneration for postmitotic neurons as it leads to the irreparable loss of cells and cell function...

While commonly treated as a uniform state in practice, rapid eye movement sleep contains two distinct microstructures-phasic (presence of rapid eye movement) and tonic (no rapid eye movement). This study aims to identify technical challenges during rapid eye movement sleep microstructure visual classification in patients with rapid eye movement sleep behaviour disorder, and to propose solutions to enhance reliability between scorers. Fifty-seven sleep recordings were randomly allocated into three subsequent batches (n = 10, 13 and 34) for scoring...

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with unique differences in social interaction, communication, and a spectrum of behavioral characteristics. In the past, motor disturbance in individuals with ASD has not been considered a significant core deficit due to the predominant focus on sociability and communication issues. However, recent studies indicate that motor deficits are indeed associated with the fundamental symptoms of ASD. As there is limited research on the motor behavior of children with ASD, particularly in China, the objective of this study is to investigate the development of fundamental movement skills (FMS) in children with ASD and compare them to typically developing children...