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motor disorders

Giuseppe Battaglia, Valeria Bruno
Amyotrophic lateral sclerosis (ALS) is a complex genetic, late age-onset, progressive neurodegenerative disorder leading to the death of upper and lower motor neurons. Life expectancy after diagnosis is short due to the ongoing degeneration and to the lack of effective treatments. Axonal alterations, mitochondrial deficits, RNA changes, protein misfolding and turnover, glial dysfunction and hyperexcitability are key players in molecular mechanisms involved in the degeneration of motor neurons. In the context of hyperexcitability, metabotropic glutamate (mGlu) receptors, which are widely distributed throughout the central nervous system and act through many intracellular signaling pathways, are emerging as novel potential drug targets for the therapeutic treatment of ALS, as they are able to counteract excitotoxicity by reducing glutamate release and inducing the production of neurotrophic factors...
March 9, 2018: Current Opinion in Pharmacology
Nicole Papadopoulos, Vasileios Stavropoulos, Jennifer McGinley, Mark Bellgrove, Bruce Tonge, Anna Murphy, Kim Cornish, Nicole Rinehart
OBJECTIVES/BACKGROUND: A high proportion of children with Attention Deficit Hyperactivity Disorder- Combined type (ADHD-CT) experience sleep and motor problems. This study investigated (a) whether motor proficiency moderated the relationship between ADHD symptoms and sleep problems in children with and without ADHD-CT and (b) whether this moderation differed as a function of ADHD diagnosis. PARTICIPANTS: A sample of 70 primary school male children between 8-15 years were recruited; children with ADHD-CT (n = 38; mean age 10 years, 2 months [SD = 1 year, 6 months]) and a typically developing (TD) (n = 32; mean age 9 years, 6 months [SD = 1 year, 5 months]) group...
March 12, 2018: Behavioral Sleep Medicine
Anne-Katrine F Bundgaard, Jette Asmussen, Nadia S Pedersen, Niels Bilenberg
This study investigated whether early signs of attention deficit hyperactivity disorder (ADHD) in toddlers aged 2-3 years are associated with disturbed sleep and activity levels. Participants were recruited from the Odense Child Cohort, and children scoring above the 93rd percentile on the ADHD scale of the Child Behaviour Checklist 1½-5 were categorised as cases and compared with age- and gender-matched normal-scoring controls. Daytime and nocturnal activity for 24 children with ADHD traits (cases) and 25 healthy controls was assessed through 7 days of actigraphy, and parents completed the Children's Sleep Habits Questionnaire (CSHQ) and the ADHD Rating Scale IV Preschool Version (ADHD-RS)...
March 12, 2018: Journal of Sleep Research
Lora Minkova, Sarah Gregory, Rachael I Scahill, Ahmed Abdulkadir, Christoph P Kaller, Jessica Peter, Jeffrey D Long, Julie C Stout, Ralf Reilmann, Raymund A Roos, Alexandra Durr, Blair R Leavitt, Sarah J Tabrizi, Stefan Klöppel
Huntington's disease (HD) is a progressive neurodegenerative disorder that can be genetically confirmed with certainty decades before clinical onset. This allows the investigation of functional and structural changes in HD many years prior to disease onset, which may reveal important mechanistic insights into brain function, structure and organization in general. While regional atrophy is present at early stages of HD, it is still unclear if both hemispheres are equally affected by neurodegeneration and how the extent of asymmetry affects domain-specific functional decline...
2018: NeuroImage: Clinical
R L van den Brink, S Nieuwenhuis, G J M van Boxtel, G van Luijtelaar, H J Eilander, V J M Wijnen
For some patients, coma is followed by a state of unresponsiveness, while other patients develop signs of awareness. In practice, detecting signs of awareness may be hindered by possible impairments in the patient's motoric, sensory, or cognitive abilities, resulting in a substantial proportion of misdiagnosed disorders of consciousness. Task-free paradigms that are independent of the patient's sensorimotor and neurocognitive abilities may offer a solution to this challenge. A limitation of previous research is that the large majority of studies on the pathophysiological processes underlying disorders of consciousness have been conducted using cross-sectional designs...
2018: NeuroImage: Clinical
Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases...
2018: Case Reports in Pediatrics
Lídia Cantacorps, Héctor González-Pardo, Jorge L Arias, Olga Valverde, Nélida M Conejo
Prenatal and perinatal alcohol exposure caused by maternal alcohol intake during gestation and lactation periods can have long-lasting detrimental effects on the brain development and behaviour of offspring. Children diagnosed with Foetal Alcohol Spectrum Disorders (FASD) display a wide range of cognitive, emotional and motor deficits, together with characteristic morphological abnormalities. Maternal alcohol binge drinking is particularly harmful for foetal and early postnatal brain development, as it involves exposure to high levels of alcohol over short periods of time...
March 8, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Hirokazu Hirai, Masanobu Kano
Neurodegenerative diseases such as spinocerebellar ataxias and autoantibody-associated disorders of the central nervous system often affect the cerebellum, resulting in motor deficits. Recent studies have revealed that most of these disorders impair type 1 metabotropic glutamate receptor (mGluR1) and/or the closely associated signaling molecules in cerebellar Purkinje cell. Since the signaling pathway triggered by mGluR1 activation in Purkinje cell plays a pivotal role in coordinated movements and motor learning, pharmacological repair of aberrant mGluR1 signaling in Purkinje cell is critical for mitigation of cerebellar symptoms...
March 8, 2018: Current Opinion in Pharmacology
Elizabeth Heinrichs-Graham, Timothy J McDermott, Mackenzie S Mills, Alex I Wiesman, Yu-Ping Wang, Julia M Stephen, Vince D Calhoun, Tony W Wilson
Numerous studies connect beta oscillations in the motor cortices to volitional movement, and beta is known to be aberrant in multiple movement disorders. However, the dynamic interplay between these beta oscillations, motor performance, and spontaneous beta power (e.g., during rest) in the motor cortices remains unknown. This study utilized magnetoencephalography (MEG) to investigate these three parameters and their lifespan trajectory in 57 healthy participants aged 9-75 years old. Movement-related beta activity was imaged using a beamforming approach, and voxel time series data were extracted from the peak voxels in the primary motor cortices...
March 2, 2018: Developmental Cognitive Neuroscience
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
March 3, 2018: Clinical Neurology and Neurosurgery
T Gabriel Enge, Heath Ecroyd, Dianne F Jolley, Justin J Yerbury, Bernadett Kalmar, Anthony Dosseto
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is among the most common of the motor neuron diseases, and arguably the most devastating. During the course of this fatal neurodegenerative disorder, motor neurons undergo progressive degeneration. The currently best-understood animal models of ALS are based on the over-expression of mutant isoforms of Cu/Zn superoxide dismutase 1 (SOD1); these indicate that there is a perturbation in metal homeostasis with disease progression. Copper metabolism in particular is affected in the central nervous system (CNS) and muscle tissue...
March 7, 2018: Molecular and Cellular Neurosciences
F Vitale, A Capozzo, P Mazzone, E Scarnati
The interest in the pedunculopontine tegmental nucleus (PPTg), a structure located in the brainstem at the level of the pontomesencephalic junction, has greatly increased in recent years because it is involved in the regulation of physiological functions that fail in Parkinson's disease and because it is a promising target for deep brain stimulation in movement disorders. The PPTg is highly interconnected with the main basal ganglia nuclei and relays basal ganglia activity to thalamic and brainstem nuclei and to spinal effectors...
March 7, 2018: Neurobiology of Disease
Alex Yen-Yu Chen, Tim Tully
Parkinson's disease (PD) is a progressive motor neurodegenerative disorder, characterized by a selective loss of dopaminergic neurons in the substantia nigra. The complexity of disease etiology includes both genetic and environmental factors. No effective drug that can modify disease progression and protect dopamine neurons from degeneration is presently available. Human α-Synuclein A30P (A30P) is a mutant gene identified in early onset PD and showed to result selective dopamine neuron loss in transgenic A30P flies and mice...
March 7, 2018: Neurobiology of Disease
Rocco Gogliotti, Nicole Fisher, Branden Stansley, Carrie Jones, Craig Lindsley, Jeffrey Conn, Colleen Niswender
Mutations in the Methyl CpG Binding Protein 2 (MECP2) gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with HDAC3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. However, to date, studies in mouse models of RTT have identified a limited number of gene or pathway-level disruptions, and even fewer genes have been identified that could be considered amenable to classical drug discovery approaches...
March 9, 2018: Journal of Pharmacology and Experimental Therapeutics
Paula M Calvo, Rosa R de la Cruz, Angel M Pastor
Vascular endothelial growth factor (VEGF), also known as VEGF-A, was discovered due to its vasculogenic and angiogenic activity, but a neuroprotective role for VEGF was later proven for lesions and disorders. In different models of motoneuronal degeneration, VEGF administration leads to a significant reduction of motoneuronal death. However, there is no information about the physiological state of spared motoneurons. We examined the trophic role of VEGF on axotomized motoneurons with recordings in alert animals using the oculomotor system as the experimental model, complemented with a synaptic study at the confocal microscopy level...
March 6, 2018: Experimental Neurology
Neethu Mariam Joy, S Umesh
Assistive speech-based technologies can improve the quality of life for people affected with dysarthria, a motor speech disorder. In this paper, we explore multiple ways to improve Gaussian mixture model and deep neural network (DNN) based hidden Markov model (HMM) automatic speech recognition systems for TORGO dysarthric speech database. This work shows significant improvements over the previous attempts in building such systems in TORGO. We trained speaker-specific acoustic models by tuning various acoustic model parameters, using speaker normalized cepstral features and building complex DNN-HMM models with dropout and sequence-discrimination strategies...
March 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
Michele Torrisi, Adriana Piccolo, Rosaria De Luca, Matteo Berenati, Antonella Olivo, Giuseppa Maresca, Antonino Naro, Rocco Salvatore Calabrò
Disorder of consciousness (DOC) can be either an acute and reversible condition or a chronic condition, including vegetative state or minimally conscious state. Herein, we describe a patient who has unexpectedly recovered consciousness after being in a misdiagnosed vegetative state for a long period. A 63-year-old woman was admitted to our rehabilitation center in vegetative state (Coma Recovery Scale-Revised score, 6) and treated with a standard rehabilitation program, including physical therapy and multisensory stimulation, besides psychoactive drugs...
April 2018: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
Agostinho Lemos, Rita Meloc, Antonio J Preto, Jose G Almeida, Irina S Moreira, M Natalia D S Cordeiro
Parkinson's Disease (PD) is a long-term neurodegenative brain disorder that mainly affects the motor system. The causes are still unknown, and even though currently there is no cure, several therapeutic options are available to manage its symptoms. The development of novel anti-parkinsonian agents and an understanding of their proper and optimal use are, indeed, highly demanding. For the last decades, L-3,4-DihydrOxyPhenylAlanine or levodopa (L-DOPA) has been the gold-standard therapy for the symptomatic treatment of motor dysfunctions associated to PD...
March 8, 2018: Current Neuropharmacology
Melissa R Mandarakas, Kristy J Rose, Oranee Sanmaneechai, Manoj P Menezes, Kathryn M Refshauge, Joshua Burns
A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth disease (CMT) is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for Spinal Muscular Atrophy (SMA). There were no CMT-specific outcome measures identified, however one (Motor Function Measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT...
March 9, 2018: Journal of the Peripheral Nervous System: JPNS
Adeline A Lau, Sarah J Tamang, Kim M Hemsley
Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic period, patients typically show a progressive loss of cognitive and motor skills, with death often during the second decade of life. The diagnostic criteria of autism spectrum disorders (ASD) include impaired communication and social interactions, as well as displays of repetitive behaviours and fixed interests...
March 8, 2018: Journal of Inherited Metabolic Disease
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