AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHealth Care
Motor Neuron DiseaseMotor NeuronsNeuromuscular DiseasesBulbar Palsy, ProgressiveAmyotrophic Lateral SclerosisMuscular Atrophy, SpinalNeuronsSurvival of Motor Neuron 1 ProteinSpinal CordSurvival of Motor Neuron 2 ProteinAnterior Horn CellsNerve DegenerationSMN Complex ProteinsSuperoxide DismutaseMuscular Disorders, AtrophicMotor CortexFasciculationBulbo-Spinal Atrophy, X-LinkedGaggingMuscular AtrophyAxonsNeurons, AfferentTDP-43 ProteinopathiesFrontotemporal Lobar DegenerationNeurofilament ProteinsFrontotemporal DementiaElectromyographyToxascariasisbeta-Hexosaminidase beta ChainEvoked Potentials, MotorRNA-Binding Protein FUSPharyngostomyRiluzolePyrrolidonecarboxylic AcidInclusion BodiesNeural ConductionElectric InjuriesDeglutition DisordersMice, TransgenicPick Disease of the BrainMotor ActivityDisease Models, AnimalBrain Injury, ChronicLathyrismMutationDEAD Box Protein 20Ulnar NerveNerve Tissue ProteinsSpinal Cord DiseasesBrainPeripheral NervesNeuromuscular JunctionAction PotentialsSandhoff DiseaseMarchiafava-Bignami DiseaseRats, TransgenicNeurologic ExaminationCricoid CartilageAxonal TransportDementiaDNA Repeat ExpansionParalysisSpinal Muscular Atrophies of ChildhoodRecruitment, NeurophysiologicalElectric StimulationMuscle, SkeletalImmunohistochemistryAge of OnsetAnimals, Genetically ModifiedCells, CulturedSpastic Paraplegia, HereditaryMusclesGastrostomyCell DeathMuscle WeaknessTime FactorsSpinal Nerve RootsMice, Inbred C57BLPhenotypeMolecular Motor ProteinsPedigreeDisease ProgressionCell CountSynapsesThyrotropin-Releasing HormoneGanglia, InvertebrateNervous System DiseasesAtrophyNeuroprotective AgentsNeuroimaging
Motor Neuron Disease: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)Motor Neurons: Neurons which activate MUSCLE CELLS.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Bulbar Palsy, Progressive: A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)Amyotrophic Lateral Sclerosis: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)Muscular Atrophy, Spinal: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Survival of Motor Neuron 1 Protein: A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Survival of Motor Neuron 2 Protein: A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.Anterior Horn Cells: MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.Nerve Degeneration: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.SMN Complex Proteins: A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.Superoxide Dismutase: An oxidoreductase that catalyzes the reaction between superoxide anions and hydrogen to yield molecular oxygen and hydrogen peroxide. The enzyme protects the cell against dangerous levels of superoxide. EC 1.15.1.1.Muscular Disorders, Atrophic: Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).Motor Cortex: Area of the FRONTAL LOBE concerned with primary motor control located in the dorsal PRECENTRAL GYRUS immediately anterior to the central sulcus. It is comprised of three areas: the primary motor cortex located on the anterior paracentral lobule on the medial surface of the brain; the premotor cortex located anterior to the primary motor cortex; and the supplementary motor area located on the midline surface of the hemisphere anterior to the primary motor cortex.Fasciculation: Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)Bulbo-Spinal Atrophy, X-Linked: An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.Gagging: Contraction of the muscle of the PHARYNX caused by stimulation of sensory receptors on the SOFT PALATE, by psychic stimuli, or systemically by drugs.Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.Neurons, Afferent: Neurons which conduct NERVE IMPULSES to the CENTRAL NERVOUS SYSTEM.TDP-43 Proteinopathies: Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.Frontotemporal Lobar Degeneration: Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.Neurofilament Proteins: Type III intermediate filament proteins that assemble into neurofilaments, the major cytoskeletal element in nerve axons and dendrites. They consist of three distinct polypeptides, the neurofilament triplet. Types I, II, and IV intermediate filament proteins form other cytoskeletal elements such as keratins and lamins. It appears that the metabolism of neurofilaments is disturbed in Alzheimer's disease, as indicated by the presence of neurofilament epitopes in the neurofibrillary tangles, as well as by the severe reduction of the expression of the gene for the light neurofilament subunit of the neurofilament triplet in brains of Alzheimer's patients. (Can J Neurol Sci 1990 Aug;17(3):302)Frontotemporal Dementia: The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes.Toxascariasis: Infections with nematodes of the genus TOXASCARIS.beta-Hexosaminidase beta Chain: The beta subunit of hexosaminidase A and hexosamininidase B. Mutations in the gene that encodes this protein are linked to SANDHOFF DISEASE and can result in loss of both hexosaminidase A activity and hexosaminidase B activity.Evoked Potentials, Motor: The electrical response evoked in a muscle or motor nerve by electrical or magnetic stimulation. Common methods of stimulation are by transcranial electrical and TRANSCRANIAL MAGNETIC STIMULATION. It is often used for monitoring during neurosurgery.RNA-Binding Protein FUS: A multifunctional heterogeneous-nuclear ribonucleoprotein that may play a role in homologous DNA pairing and recombination. The N-terminal portion of protein is a potent transcriptional activator, while the C terminus is required for RNA binding. The name FUS refers to the fact that genetic recombination events result in fusion oncogene proteins (ONCOGENE PROTEINS, FUSION) that contain the N-terminal region of this protein. These fusion proteins have been found in myxoid liposarcoma (LIPOSARCOMA, MYXOID) and acute myeloid leukemia.Pharyngostomy: External surgical fistulization of the pharynx for feeding.Riluzole: A glutamate antagonist (RECEPTORS, GLUTAMATE) used as an anticonvulsant (ANTICONVULSANTS) and to prolong the survival of patients with AMYOTROPHIC LATERAL SCLEROSIS.Pyrrolidonecarboxylic Acid: A cyclized derivative of L-GLUTAMIC ACID. Elevated blood levels may be associated with problems of GLUTAMINE or GLUTATHIONE metabolism.Inclusion Bodies: A generic term for any circumscribed mass of foreign (e.g., lead or viruses) or metabolically inactive materials (e.g., ceroid or MALLORY BODIES), within the cytoplasm or nucleus of a cell. Inclusion bodies are in cells infected with certain filtrable viruses, observed especially in nerve, epithelial, or endothelial cells. (Stedman, 25th ed)Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Electric Injuries: Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock.Deglutition Disorders: Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Pick Disease of the Brain: A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9)Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Brain Injury, Chronic: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA.Lathyrism: A paralytic condition of the legs caused by ingestion of lathyrogens, especially BETA-AMINOPROPIONITRILE or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus LATHYRUS.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.DEAD Box Protein 20: A multifunctional protein that is both a DEAD-box RNA helicase and a component of the SMN protein complex.Ulnar Nerve: A major nerve of the upper extremity. In humans, the fibers of the ulnar nerve originate in the lower cervical and upper thoracic spinal cord (usually C7 to T1), travel via the medial cord of the brachial plexus, and supply sensory and motor innervation to parts of the hand and forearm.Nerve Tissue ProteinsSpinal Cord Diseases: Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Peripheral Nerves: The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.Neuromuscular Junction: The synapse between a neuron and a muscle.Action Potentials: Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.Sandhoff Disease: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.Marchiafava-Bignami Disease: A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well.Rats, Transgenic: Laboratory rats that have been produced from a genetically manipulated rat EGG or rat EMBRYO, MAMMALIAN. They contain genes from another species.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Cricoid Cartilage: The small thick cartilage that forms the lower and posterior parts of the laryngeal wall.Axonal Transport: The directed transport of ORGANELLES and molecules along nerve cell AXONS. Transport can be anterograde (from the cell body) or retrograde (toward the cell body). (Alberts et al., Molecular Biology of the Cell, 3d ed, pG3)Dementia: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.DNA Repeat Expansion: An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.Paralysis: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)Spinal Muscular Atrophies of Childhood: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)Recruitment, Neurophysiological: The spread of response if stimulation is prolonged. (Campbell's Psychiatric Dictionary, 8th ed.)Electric Stimulation: Use of electric potential or currents to elicit biological responses.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Animals, Genetically Modified: ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Spastic Paraplegia, Hereditary: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)Muscles: Contractile tissue that produces movement in animals.Gastrostomy: Creation of an artificial external opening into the stomach for nutritional support or gastrointestinal compression.Cell Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability.Muscle Weakness: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)Time Factors: Elements of limited time intervals, contributing to particular results or situations.Spinal Nerve Roots: Paired bundles of NERVE FIBERS entering and leaving the SPINAL CORD at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots are efferent, comprising the axons of spinal motor and PREGANGLIONIC AUTONOMIC FIBERS.Mice, Inbred C57BLPhenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Molecular Motor Proteins: Proteins that are involved in or cause CELL MOVEMENT such as the rotary structures (flagellar motor) or the structures whose movement is directed along cytoskeletal filaments (MYOSIN; KINESIN; and DYNEIN motor families).Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Cell Count: The number of CELLS of a specific kind, usually measured per unit volume or area of sample.Synapses: Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate via direct electrical coupling with ELECTRICAL SYNAPSES. Several other non-synaptic chemical or electric signal transmitting processes occur via extracellular mediated interactions.Thyrotropin-Releasing Hormone: A tripeptide that stimulates the release of THYROTROPIN and PROLACTIN. It is synthesized by the neurons in the PARAVENTRICULAR NUCLEUS of the HYPOTHALAMUS. After being released into the pituitary portal circulation, TRH (was called TRF) stimulates the release of TSH and PRL from the ANTERIOR PITUITARY GLAND.Ganglia, Invertebrate: Clusters of neuronal cell bodies in invertebrates. Invertebrate ganglia may also contain neuronal processes and non-neuronal supporting cells. Many invertebrate ganglia are favorable subjects for research because they have small numbers of functional neuronal types which can be identified from one animal to another.Nervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.Neuroprotective Agents: Drugs intended to prevent damage to the brain or spinal cord from ischemia, stroke, convulsions, or trauma. Some must be administered before the event, but others may be effective for some time after. They act by a variety of mechanisms, but often directly or indirectly minimize the damage produced by endogenous excitatory amino acids.Neuroimaging: Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHealth Care
Motor Neuron DiseaseMotor NeuronsNeuromuscular DiseasesBulbar Palsy, ProgressiveAmyotrophic Lateral SclerosisMuscular Atrophy, SpinalNeuronsSurvival of Motor Neuron 1 ProteinSpinal CordSurvival of Motor Neuron 2 ProteinAnterior Horn CellsNerve DegenerationSMN Complex ProteinsSuperoxide DismutaseMuscular Disorders, AtrophicMotor CortexFasciculationBulbo-Spinal Atrophy, X-LinkedGaggingMuscular AtrophyAxonsNeurons, AfferentTDP-43 ProteinopathiesFrontotemporal Lobar DegenerationNeurofilament ProteinsFrontotemporal DementiaElectromyographyToxascariasisbeta-Hexosaminidase beta ChainEvoked Potentials, MotorRNA-Binding Protein FUSPharyngostomyRiluzolePyrrolidonecarboxylic AcidInclusion BodiesNeural ConductionElectric InjuriesDeglutition DisordersMice, TransgenicPick Disease of the BrainMotor ActivityDisease Models, AnimalBrain Injury, ChronicLathyrismMutationDEAD Box Protein 20Ulnar NerveNerve Tissue ProteinsSpinal Cord DiseasesBrainPeripheral NervesNeuromuscular JunctionAction PotentialsSandhoff DiseaseMarchiafava-Bignami DiseaseRats, TransgenicNeurologic ExaminationCricoid CartilageAxonal TransportDementiaDNA Repeat ExpansionParalysisSpinal Muscular Atrophies of ChildhoodRecruitment, NeurophysiologicalElectric StimulationMuscle, SkeletalImmunohistochemistryAge of OnsetAnimals, Genetically ModifiedCells, CulturedSpastic Paraplegia, HereditaryMusclesGastrostomyCell DeathMuscle WeaknessTime FactorsSpinal Nerve RootsMice, Inbred C57BLPhenotypeMolecular Motor ProteinsPedigreeDisease ProgressionCell CountSynapsesThyrotropin-Releasing HormoneGanglia, InvertebrateNervous System DiseasesAtrophyNeuroprotective AgentsNeuroimaging
Neale DaniherNeale Daniher
In August 2014 it was revealed that he is battling motor neurone disease, which is currently incurable. He has dedicated the ... Daniher was diagnosed with motor neuron disease in 2013, and is now known as a prominent campaigner for medical research. Neale ... in Raising funds for the fight against Motor Neurone Disease (MND). List of Australian rules football families Daniher, Terry ... former Essendon champion and Melbourne coach has revealed his deadly battle with motor neurone disease, Herald Sun, 17 August ...
Sclerosis (medicine)Sclerosis (medicine)
... sometimes known as Lou Gehrig's disease, a progressive, incurable, usually fatal disease of motor neurons. Atherosclerosis, a ... Otosclerosis, a disease of the ears. Systemic sclerosis (progressive systemic scleroderma), a rare, chronic disease which ... Lichen sclerosus, an autoimmune disease that hardens the connective tissues of the vagina and the penis. Multiple sclerosis, or ... Tuberous sclerosis, a rare genetic disease which affects multiple systems. Primary sclerosing cholangitis, a hardening of the ...
Personal Independence PaymentPersonal Independence Payment
Parkinson's disease, multiple sclerosis, motor neurone disease are made to attend reassessments though it is unlikely they will ... Campaigners have expressed concern for patients with progressive, incurable conditions such as rheumatoid arthritis, ... because increasing age is the main risk factor for developing disabling diseases. PIP was introduced by the Welfare Reform Act ... data/file/180954/pip-briefing-award-durations.pdf Stop PIP reassessments for patients with progressive diseases, campaigners ...
2008-09 Aldershot Town F.C. season2008-09 Aldershot Town F.C. season
Hampshire who is battling against the incurable Motor Neurone Disease and proceeds from the game were shared out between the ...
NeuronNeuron
Presently incurable, this disease is one of the most common inherited neurological disorders, with 37 in 100,000 affected. ... Betz cells, large motor neurons. Lugaro cells, interneurons of the cerebellum. Medium spiny neurons, most neurons in the corpus ... Pyramidal cells, neurons with triangular soma, a type of Golgi I. Renshaw cells, neurons with both ends linked to alpha motor ... Efferent neurons transmit signals from the central nervous system to the effector cells and are also called motor neurons. ...
Gene silencingGene silencing
... is a motor neuron disease that affects the brain and spinal cord. The disease causes motor neurons to degenerate, which ... This disease is incurable and known to cause motor, cognitive, and behavioral deficits. Researchers have been looking to gene ... "Gene Therapy for Motor Neuron Disease". Society for Neuroscience. Retrieved 13 December 2013. Ding H, Schwarz DS, Keene A, ... In addition, they provide a more complete view on the development of diseases since diseases are generally associated with ...
Adult developmentAdult development
... like Parkinson's disease, Alzheimer's disease, and Huntington's are irreversible and incurable. Alzheimer's disease (AD) was ... updrs tracks motor and non-motor improvement due to subthalamic nucleus deep brain stimulation in parkinson disease. ... New neurons are constantly formed from stem cells in parts of the adult brain throughout adulthood, a process called adult ... Motor 2 Circular sensory-motor 3 Sensory-motor 4 Nominal 5 Sentential 6 Preoperational 7 Primary 8 Concrete 9 Abstract 10 ...
Idiopathic hypersomniaIdiopathic hypersomnia
... and colleagues helps the patient to function much better with this incurable disease." Abnormally low levels of acylcarnitine ... Destruction of noradrenergic neurons has produced hypersomnia in experimental animal studies, and injury to adrenergic neurons ... Sleep paralysis and hypnagogic hallucinations may also occur, as well as motor hyper-reactivity. Several studies have shown ... and colleagues helps the patient to function much better with this incurable disease." Although management of idiopathic ...
Recurrent laryngeal nerveRecurrent laryngeal nerve
... but these would not be the longest neurons that ever existed: the neurons reaching the tip of the tail would have exceeded 30 ... The somatic motor fibers that innervate the laryngeal and pharyngeal muscles are located in the nucleus ambiguus and emerge ... The condition is incurable, but surgery can keep the airway open. Experiments with nerve grafts have been tried. Although ... Horses are subject to equine recurrent laryngeal neuropathy, a disease of the axons of the recurrent laryngeal nerves. The ...
Spinal cord injurySpinal cord injury
One important predictor of motor recovery in an area is presence of sensation there, particularly pain perception. Most motor ... SCI may occur in intervertebral disc disease, and spinal cord vascular disease. Spontaneous bleeding can occur within or ... Spinal cord injuries generally result in at least some incurable impairment even with the best possible treatment. The best ... which can give rise to an ischemic cascade with a release of toxins that damages neurons. Thus treatment is often geared toward ...
DynapeniaDynapenia
Greeks of the 4th and 5th centuries BC viewed aging as a chronic, incurable, and progressive disease. By the 1st century BC and ... Studies involving the dissection of cadavers have uncovered a 43% decrease in the cell body size of neurons found in the ... McNeil CJ, Doherty TJ, Stashuk DW, Rice CL (April 2005). "Motor unit number estimates in the tibialis anterior muscle of young ... Power GA, Dalton BH, Behm DG, Vandervoort AA, Doherty TJ, Rice CL (September 2010). "Motor unit number estimates in masters ...
NeurodegenerationNeurodegeneration
Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a disease in which motor neurons are selectively targeted for ... Such diseases are incurable, resulting in progressive degeneration and/or death of neuron cells. As research progresses, many ... One constant factor is that in each disease, neurons gradually lose function as the disease progresses with age. The process of ... in Alzheimer's disease are amyloid-beta and tau, in Parkinson's disease is alpha-synuclein and in Huntington's disease is ...
NeurodegenerationNeurodegeneration
Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a disease in which motor neurons are selectively targeted for ... Alzheimer's disease, and Huntington's disease - occur as a result of neurodegenerative processes. Such diseases are incurable, ... Alzheimer's disease[edit]. Main article: Alzheimer's disease. Alzheimer's disease is characterised by loss of neurons and ... In Alzheimer's disease, these are amyloid-beta and tau. In Parkinson's disease, it is alpha-synuclein. In Huntington's disease ...
Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease
For other diseases, see Charcot disease (disambiguation).. Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and ... Currently incurable, this disease is the most commonly inherited neurological disorder, and affects about one in 2,500 people.[ ... Neurons, Schwann cells, and fibroblasts work together to create a functional nerve. Schwann cells and neurons exchange ... In 2010, CMT was one of the first diseases where the genetic cause of a particular patient's disease was precisely determined ...
2015 in science2015 in science
In a world first, gene-edited immune cells are used to treat 'incurable' leukaemia in a one-year-old girl. Stem cell scientists ... "Destructive disease shows potential as a cancer treatment". Science Daily. 13 October 2015. Retrieved 14 October 2015. "Malaria ... A review article published in the journal Neuron describes a number of recent studies showing that brain imaging can help ... 22 May - Researchers have developed algorithms that enable robots to learn motor tasks through trial and error using a process ...
2016 in science2016 in science
"DNA-editing breakthrough could fix 'broken genes' in the brain, delay ageing and cure incurable diseases". The Independent. 16 ... "Researchers watch in 3-D as neurons talk to each other in a living mouse brain". Science Daily. 1 November 2016. Retrieved 1 ... The first known death caused by a self-driving car is disclosed by Tesla Motors. 1 July - A new family of tetraquark particles ... 22 December Ebola virus disease found to be 70-100% prevented by rVSV-ZEBOV vaccine, making it the first proven vaccine against ...
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHealth Care
Motor Neuron DiseaseMotor NeuronsNeuromuscular DiseasesBulbar Palsy, ProgressiveAmyotrophic Lateral SclerosisMuscular Atrophy, SpinalNeuronsSurvival of Motor Neuron 1 ProteinSpinal CordSurvival of Motor Neuron 2 ProteinAnterior Horn CellsNerve DegenerationSMN Complex ProteinsSuperoxide DismutaseMuscular Disorders, AtrophicMotor CortexFasciculationBulbo-Spinal Atrophy, X-LinkedGaggingMuscular AtrophyAxonsNeurons, AfferentTDP-43 ProteinopathiesFrontotemporal Lobar DegenerationNeurofilament ProteinsFrontotemporal DementiaElectromyographyToxascariasisbeta-Hexosaminidase beta ChainEvoked Potentials, MotorRNA-Binding Protein FUSPharyngostomyRiluzolePyrrolidonecarboxylic AcidInclusion BodiesNeural ConductionElectric InjuriesDeglutition DisordersMice, TransgenicPick Disease of the BrainMotor ActivityDisease Models, AnimalBrain Injury, ChronicLathyrismMutationDEAD Box Protein 20Ulnar NerveNerve Tissue ProteinsSpinal Cord DiseasesBrainPeripheral NervesNeuromuscular JunctionAction PotentialsSandhoff DiseaseMarchiafava-Bignami DiseaseRats, TransgenicNeurologic ExaminationCricoid CartilageAxonal TransportDementiaDNA Repeat ExpansionParalysisSpinal Muscular Atrophies of ChildhoodRecruitment, NeurophysiologicalElectric StimulationMuscle, SkeletalImmunohistochemistryAge of OnsetAnimals, Genetically ModifiedCells, CulturedSpastic Paraplegia, HereditaryMusclesGastrostomyCell DeathMuscle WeaknessTime FactorsSpinal Nerve RootsMice, Inbred C57BLPhenotypeMolecular Motor ProteinsPedigreeDisease ProgressionCell CountSynapsesThyrotropin-Releasing HormoneGanglia, InvertebrateNervous System DiseasesAtrophyNeuroprotective AgentsNeuroimaging
Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1 | Anales de...Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1 | Anales de...
Spinal muscular atrophy type 1, also known as Werdnig-Hoffman disease, is characterised by the degeneration of motor neurons in ... is an incurable neuromuscular disease with an autosomal recessive pattern of inheritance in which the degeneration of the motor ... La atrofia muscular espinal tipo 1 (AME-1) es una enfermedad progresiva e incurable que plantea problemas éticos entre los ... Experience with the most recently managed case of SMA-1: previous information on the disease, direct care delivery, direct ...
analesdepediatria.org
Wales Rugby World Cup player reveals hes been diagnosed with incurable Motor Neurone Disease - Wales OnlineWales Rugby World Cup player reveals he's been diagnosed with incurable Motor Neurone Disease - Wales Online
... the incurable illness which last year claimed the life of South Africa legend Joost van der Westhuizen ... Ken Waters is suffering from motor neurone disease, ... hes been diagnosed with incurable Motor Neurone Disease. Ken ... Waters is suffering from motor neurone disease, the incurable illness which last year claimed the life of South Africa legend ... Former Wales hooker Ken Waters has revealed hes suffering from motor neurone disease. ...
walesonline.co.uk
What is sepsis, what are the signs and symptoms and how do you get it?What is sepsis, what are the signs and symptoms and how do you get it?
Incurable illness. What is motor neurone disease and whats the life expectancy? ... Those people battling diabetes, Aids, kidney or liver disease are also at greater risk due to their weakened immune systems. ... Known by its colloquial name blood poisoning, sepsis is also often referred to as a flesh-eating disease. ...
thesun.co.uk
Motor neuron disease: Types, symptoms, causes, and treatmentsMotor neuron disease: Types, symptoms, causes, and treatments
They are progressive diseases, which currently cannot be cured, although supportive care is available in several different ways ... Motor neuron diseases are conditions that affect the nerves and cause the muscles in the body to deteriorate until a person ... They are a rare but serious and incurable form of progressive neurodegeneration.. Motor neurons are nerve cells that send ... Fast facts on motor neuron diseases Here are some key points about motor neuron diseases. More detail is in the main article. ...
medicalnewstoday.com
What end of life care involves - NHSWhat end of life care involves - NHS
have an advanced incurable illness, such as cancer, dementia or motor neurone disease ... care teams are made up of different healthcare professionals and can co-ordinate the care of people with an incurable illness. ...
nhs.uk
CORDIS | European CommissionCORDIS | European Commission
Motor neuron (MN) diseases are incurable neurodegenerative diseases causing progressive paralysis and premature death. Most ... Final Report Summary - IRLVGTMND (IMPROVED RETROGRADE LENTIVIRAL VECTORS FOR GENE THERAPY IN MOTOR NEURON DISEASES). This ... is the second commonest genetic disease affecting children and is due to mutations in the survival motor neuron (SMN1) gene. In ... Using motor neurons cultured in compartmentalized chambers, we demonstrated that axonal retrograde transport of these vectors ...
cordis.europa.eu
R-Loops in Motor Neuron Diseases | SpringerLinkR-Loops in Motor Neuron Diseases | SpringerLink
These mechanisms can represent novel therapeutic targets for these devastating, incurable diseases. ... Burghes AHM, Beattie CE (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons ... In this review, we discuss current advancements in this field with a specific focus on motor neuron diseases associated with ... R-loops DNA damage Motor neuron disease Amyotrophic lateral sclerosis Spinal muscular atrophy ...
link.springer.com
Respirator Can Improve Quality Of Life Of Motor Neurone Disease Patients ( The quality of life of patients sufferi...)Respirator Can Improve Quality Of Life Of Motor Neurone Disease Patients ( The quality of life of patients sufferi...)
At present just one drug is licensed to treat MND an incurable dise...A team of researchers of the University of Newcastle-upon ... Motor,Neurone,Disease,Patients,,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest ... Patients suffering from Motor Neurone Disease (MND) could benefit fr... ... The quality of life of patients suffering from Motor Neurone Disease (... ...
bio-medicine.org
Why nerve cells die in ALS and frontotemporal dementiaWhy nerve cells die in ALS and frontotemporal dementia
... is progressive and incurable at this time. It is part of a wider group of disorders known as motor neuron diseases. The U.S. ... The goal is to find potential drugs that slow or stop degeneration of these motor nerve cells in petri dishes - and eventually ... carrying the C9 mutation and reprogrammed these blood cells into motor nerve cells that degenerate and die in the disease. They ... Guided by these discoveries, the Ichida Lab is now using the patient-derived motor nerve cells to test thousands of potential ...
innovations-report.com
No Precedent? Then Set One! | Richard Dawkins FoundationNo Precedent? Then Set One! | Richard Dawkins Foundation
He has motor neurone disease (MND), an incurable, progressive, muscle-wasting condition. ... On 10 December 2008 Sky TV broadcast a programme on which a man with motor neurone disease was shown committing suicide with ... So if somebody has Lou Gehrigs disease or Locked-In Syndrome or whatever, they cannot die because they cannot move. T.S. for ... Those patient with chronic obstructive airways disease can lose their carbon dioxide-based drive to inhale and come to depend ...
richarddawkins.net
JCI - Volume 121, Issue 8JCI - Volume 121, Issue 8
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, ... SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI ... is an autosomal recessive neurodegenerative disease that is characterized by the loss of motor neurons, resulting in ... It is caused by the loss of functional survival motor neuron (SMN) protein due to mutations or deletion in the SMN1 gene. A ...
jci.org
Resistant neurons point the way to protective factors in ALS | News | News | Karolinska InstitutetResistant neurons point the way to protective factors in ALS | News | News | Karolinska Institutet
... can be used as a tool to identify factors able to prevent the degeneration of vulnerable neurons caused by this deadly disease. ... The study, which is published in the journal Scientific Reports, demonstrates that degeneration-resistant oculomotor neurons ... The growth factor IGF-2 can prevent the death of human nerve cells in the incurable disease ALS, according to a study by ... Incurable disease. The disease is currently incurable, but researchers are looking for genes that can be used to develop ...
ki.se
July 2010 - Page 3 of 4 - OsocioJuly 2010 - Page 3 of 4 - Osocio
The Incurable Optimist. By Reuben Turner on 13 July 2010. This very powerful campaign on Motor Neurone Disease (also known as ...
osocio.org
Ethics briefing | Journal of Medical EthicsEthics briefing | Journal of Medical Ethics
Noel Conway was diagnosed with motor neuron disease in 2014. His condition is incurable and he is not expected to live beyond ...
jme.bmj.com
Old Drug Shows Promise for Treatment of Motor Neurone DiseaseOld Drug Shows Promise for Treatment of Motor Neurone Disease
Drug-molecule ebselen can correct many of the toxic characteristics of a protein that causes some cases of hereditary motor ... MND is an incurable, progressive disease that attacks the nerves controlling movement so muscles no longer work. MND affects ... Motor Neurone Disease can be Treated by Changing the Size of Neurons. Changing the size of the neurons helps in the ... Mission Motor Neurone Disease Therapies Aided by Stem Cell Study. Discovery by means of cutting-edge stem cell research might ...
medindia.net
Sheffield consultant recognised by NIHR | HSJ Local | Health Service JournalSheffield consultant recognised by NIHR | HSJ Local | Health Service Journal
A consultant based at Sheffield Teaching Hospitals Foundation Trust who specialises in the fight against motor neurone disease ... Motor neurone disease is a rare, incurable disease which leaves muscles wasted and weak from damaged nerves. Researchers from ... A consultant based at Sheffield Teaching Hospitals Foundation Trust who specialises in the fight against motor neurone disease ...
hsj.co.uk
Kadimastem Submitted Pre-IND Package to the FDA | Business WireKadimastem Submitted Pre-IND Package to the FDA | Business Wire
ALS (Amyotrophic Lateral Sclerosis) is the most severe of a group of neurodegenerative diseases that damage motor neurons, and ... The destruction of these neurons causes complete paralysis of the muscles they control. Currently, the disease is incurable and ... system of patients may provide systemic support for the damaged motor neurons, thereby inhibiting disease progression and ... supporting microenvironment for motor neurons is impaired. ... and neurodegenerative diseases, such as ALS and Multiple ...
businesswire.com
Stem cell study raises hope for those suffering from motor neuron disease | The Times & The Sunday TimesStem cell study raises hope for those suffering from motor neuron disease | The Times & The Sunday Times
Motor neuron disease, known as MND, is incurable, debilitating, and usually fast-acting, killing most sufferers relatively soon ... A landmark discovery using stem-cell technology could lead to the first clinical trials of drugs to defeat motor neuron disease ... Stem cell study raises hope for those suffering from motor neuron disease. ... However, hopes of a treatment have risen in recent years as stem-cell science has provided the ability to model diseases in the ...
thetimes.co.uk
Regulation of Intracellular Copper by Induction of Endogenous Metallothioneins Improves the Disease Course in a Mouse Model of...Regulation of Intracellular Copper by Induction of Endogenous Metallothioneins Improves the Disease Course in a Mouse Model of...
Mutations in SOD1 cause amyotrophic lateral sclerosis (ALS), an incurable motor neuron disease. The pathogenesis of the disease ... significantly improved the disease course and rescued motor neurons in SOD1(G93A) mice, even if the induction was initiated ... Regulation of Intracellular Copper by Induction of Endogenous Metallothioneins Improves the Disease Course in a Mouse Model of ... is poorly understood, but intracellular copper dyshomeostasis has been implicated as a key process in the disease. We recently ...
umu.diva-portal.org
Story: ALS motor neurons made easy? | ALS Therapy Development InstituteStory: ALS motor neurons made easy? | ALS Therapy Development Institute
... stem cell line that can be used to better understand ALS and rapidly discover potential medicines for the disease. ... ALS is not an incurable disease It is an Underfunded One How To Help ... For more than 150 years, ALS has been recognized by experts as a motor neuron disease. But scientists still remain unsure why ... the astrocyte-mediated destruction of neighboring motor neurons - which in part fuels the progression of the disease. ...
als.net
Neale Daniher - WikipediaNeale Daniher - Wikipedia
In August 2014 it was revealed that he is battling motor neurone disease, which is currently incurable. He has dedicated the ... Daniher was diagnosed with motor neuron disease in 2013, and is now known as a prominent campaigner for medical research. Neale ... in Raising funds for the fight against Motor Neurone Disease (MND). List of Australian rules football families Daniher, Terry ... former Essendon champion and Melbourne coach has revealed his deadly battle with motor neurone disease, Herald Sun, 17 August ...
en.wikipedia.org
Autologous Multipotent Mesenchymal Stromal Cells in the Treatment of Amyotrophic Lateral Sclerosis - Full Text View -...Autologous Multipotent Mesenchymal Stromal Cells in the Treatment of Amyotrophic Lateral Sclerosis - Full Text View -...
Motor Neuron Disease. Neurodegenerative Diseases. Nervous System Diseases. Neuromuscular Diseases. Spinal Cord Diseases. ... stem cell research has expanded greatly as a tool for developing new therapies to treat incurable diseases. Stem cell therapy ... Condition or disease Intervention/treatment Phase Motor Neuron Disease, Amyotrophic Lateral Sclerosis Biological: Suspension of ... Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that targets motor neurons. Prognosis is ...
clinicaltrials.gov
In human experiment, Ontario miners say they paid devastating price | The StarIn human experiment, Ontario miners say they paid devastating price | The Star
In Ontario, the prevalence of motor neuron disease - which includes ALS - is estimated at less than one in a thousand people. ... Ten, or roughly 3 per cent, developed Amyotrophic lateral sclerosis, a degenerative and incurable condition that slow kills the ... McIntyre Powder was supposed to protect against the disease, but miners and their families are now worried it caused severe ... A Toronto Star article from 1979 described McIntyre Powder, which miners were blasted with to protect them from lung disease, ...
thestar.com
Training in hIPSC differentiation protocols to generate motor neuron-muscle cultures to replace rat models in study of...Training in hIPSC differentiation protocols to generate motor neuron-muscle cultures to replace rat models in study of...
Loss of motor neuron function results in motor neuron diseases, which are both degenerative and incurable. Both the ... The use of hiPSC-derived motor neurons will replace all rats required for these studies. In order for motor neurons to form ... Dysfunction of mitochondria is known to impact on the pathogenesis of motor neuron diseases, often in the pre-symptomatic ... hiPSCs can also be isolated from patients with genetic variants linked with motor neuron diseases. The combination of patient- ...
nc3rs.org.uk
Frontiers | Reduced Excitability and Increased Neurite Complexity of Cortical Interneurons in a Familial Mouse Model of...Frontiers | Reduced Excitability and Increased Neurite Complexity of Cortical Interneurons in a Familial Mouse Model of...
In this study we investigated the influence of the familial disease-causing hSOD1-G93A ALS mutation on cortical interneurons in ... an imbalance between excitation and inhibition is an early event in the motor cortex, preceding the development of overt ... In this study we investigated the influence of the familial disease-causing hSOD1-G93A ALS mutation on cortical interneurons in ... Patients with both sporadic and familial forms of the disease exhibit reduced cortical inhibition, including patients with ...
frontiersin.org
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHealth Care
Motor Neuron DiseaseMotor NeuronsNeuromuscular DiseasesBulbar Palsy, ProgressiveAmyotrophic Lateral SclerosisMuscular Atrophy, SpinalNeuronsSurvival of Motor Neuron 1 ProteinSpinal CordSurvival of Motor Neuron 2 ProteinAnterior Horn CellsNerve DegenerationSMN Complex ProteinsSuperoxide DismutaseMuscular Disorders, AtrophicMotor CortexFasciculationBulbo-Spinal Atrophy, X-LinkedGaggingMuscular AtrophyAxonsNeurons, AfferentTDP-43 ProteinopathiesFrontotemporal Lobar DegenerationNeurofilament ProteinsFrontotemporal DementiaElectromyographyToxascariasisbeta-Hexosaminidase beta ChainEvoked Potentials, MotorRNA-Binding Protein FUSPharyngostomyRiluzolePyrrolidonecarboxylic AcidInclusion BodiesNeural ConductionElectric InjuriesDeglutition DisordersMice, TransgenicPick Disease of the BrainMotor ActivityDisease Models, AnimalBrain Injury, ChronicLathyrismMutationDEAD Box Protein 20Ulnar NerveNerve Tissue ProteinsSpinal Cord DiseasesBrainPeripheral NervesNeuromuscular JunctionAction PotentialsSandhoff DiseaseMarchiafava-Bignami DiseaseRats, TransgenicNeurologic ExaminationCricoid CartilageAxonal TransportDementiaDNA Repeat ExpansionParalysisSpinal Muscular Atrophies of ChildhoodRecruitment, NeurophysiologicalElectric StimulationMuscle, SkeletalImmunohistochemistryAge of OnsetAnimals, Genetically ModifiedCells, CulturedSpastic Paraplegia, HereditaryMusclesGastrostomyCell DeathMuscle WeaknessTime FactorsSpinal Nerve RootsMice, Inbred C57BLPhenotypeMolecular Motor ProteinsPedigreeDisease ProgressionCell CountSynapsesThyrotropin-Releasing HormoneGanglia, InvertebrateNervous System DiseasesAtrophyNeuroprotective AgentsNeuroimaging
FatalAmyotrophicGehrig'sBrain and spinal cordParalysisGeneticDiagnosisSOD1Death of motor neuronsFamilialMutationsPathogenesis of the diseaseBrainstem and spinal cordLower motorSpinal motor neuronsMusclesTerminalLife expectancyDegeneration of motorProgression of the diseaseTreatmentsCentreMultiple sclerosisGeneAttacksIllnessNeurological conditionCortexDegenerateConditionStem-cellRemains incurableSymptoms of motor neuronTherapeuticNervesOnsetHereditaryMuscle atrophyProteinNoel ConwayNeuroprotective effectsSubstantiaParkinson's Disease
Fatal1
Amyotrophic41
Gehrig's8
Brain and spinal cord5
Paralysis4
Genetic19
  • Spinal muscular atrophy (SMA) is the second commonest genetic disease affecting children and is due to mutations in the survival motor neuron (SMN1) gene. (europa.eu)
  • We discuss the ways in which cardiac disease states, extracardiac factors, and abnormal genetic control lead to the arrhythmia. (jci.org)
  • hiPSCs can also be isolated from patients with genetic variants linked with motor neuron diseases. (nc3rs.org.uk)
  • Mr Liversidge not only has MND - short he says for Must Not Die - but the rare genetic Fabry disease, which can also be life-threatening. (bridlingtonfreepress.co.uk)
  • Genetic, environment and viral issues may play a role in causing the motor neurone disease. (boldsky.com)
  • Though the exact cause is unclear, the National Institute of Neurological Diseases and Stroke has stated that genetic, viral, and other environmental factors play a role. (boldsky.com)
  • Rebecca, Kaitlyn and Jessica all found out they are genetic carriers of MND after losing parents to the disease. (2gb.com)
  • These findings shed new light on the genetic origins of ALS, especially in patients who had no prior family history of the disease," said Robert H. Baloh, MD, PhD , director of neuromuscular medicine in the Department of Neurology and director of the ALS Program at Cedars-Sinai. (healthcanal.com)
  • The research also takes an important next step, showing that multiple genetic defects can influence the way disease manifests in individual patients. (healthcanal.com)
  • Using small segments of genetic material to target the defects, they showed that this type of gene therapy can improve neurons from patients with the disease. (healthcanal.com)
  • In the current issue of JNNP, Watanabe and colleagues published a genome-wide association study (GWAS) in ALS to explore the effects of genetic variants in the disease course of sporadic ALS patients. (bmj.com)
  • Tuberous sclerosis, a rare genetic disease which affects multiple systems. (wikipedia.org)
  • Scientists hope that the new regulations will allow them to discover more about congenital disorders such as motor neurone disease, and potentially to develop ways of treating such disorders, or at the very least to reduce the number of babies born with incurable genetic disorders. (ivf.net)
  • Neuromuscular diseases (NMDs) represent a broad group of more than 150 genetic and acquired disorders, many causing disability and even premature death through progressive muscle wasting. (uottawa.ca)
  • Through genetic manipulation it is possible to slow down by 50 percent the progression of the disease in murine models carrying SOD1 mutations, typical of the ALS patients. (hsantalucia.it)
  • However, a broad range of studies conducted over the past few decades, including epidemiological, genetic, and post-mortem analysis, as well as in vitro and in vivo modeling, have contributed significantly to our understanding of the pathogenesis of the disease. (frontiersin.org)
  • In work led by Professor Talbot, we have created models of ALS, investigating the effect of human genetic mutations in mice and in motor neurons derived from stem cells grown from the skin of patients with ALS. (ox.ac.uk)
  • Having established some promising approaches in patients with established disease, we are now developing ways of applying these techniques to people who carry genetic risk factors but who may be some years from developing the disease. (ox.ac.uk)
  • All patients attending the Oxford Motor Neuron Disease Clinic are also given the opportunity to engage in other vital research, through participation in genetic and biomarker studies. (ox.ac.uk)
Diagnosis10
SOD110
  • In mouse models for ALS (SOD1 mutant mouse) or SMA (SMNDelta7 mouse) when we delivered in various muscle groups rabies-G pseudotyped lentiviral vectors expressing either vascular endothelial growth factor or short interfering RNA targeted to a mutated SOD1 gene or the normal SMN1 gene we corrected motor defects and extended survival. (europa.eu)
  • This makes the SOD1 protein structurally unstable leading to formation of protein 'clumps' in the motor neurones, causing them to die. (medindia.net)
  • Dr Gareth Wright, an MND researcher at the University of Liverpool, said: "This discovery has the potential to prevent the accumulation of SOD1 into the large aggregates we see within the motor neurons of effected individuals. (medindia.net)
  • Patients with both sporadic and familial forms of the disease exhibit reduced cortical inhibition, including patients with mutations in the copper/zinc superoxide-dismutase-1 (SOD1) gene. (frontiersin.org)
  • Our results from the SOD1 model suggest that cortical interneurons have electrophysiological and morphological alterations that could contribute to attenuated inhibitory function in the disease. (frontiersin.org)
  • Current transgenic murine models of the disease, which overexpress mutant SOD1, have so far been ineffective in the identification of new therapies beneficial in the human disease. (biologists.org)
  • The T70I sod1 zebrafish demonstrates key features of ALS: an early NMJ phenotype, susceptibility to oxidative stress and an adult-onset motor neuron disease phenotype. (biologists.org)
  • Dominant mutations in the Cu-Zn superoxide dismutase 1 (SOD1) ( 3 ) gene account for ~20% of familial forms of the disease and ~2% of all cases. (sciencemag.org)
  • Reducing mutant SOD1 expression in the spinal cord using antisense oligonucleotides (ASOs) ( 7 , 8 ) or RNA interference (RNAi) ( 9 - 15 ) can slow disease onset and improve survival in these animal models. (sciencemag.org)
  • Crucially, this silencing profile did not alter the course of the disease in this fALS model, thereby providing compelling evidence that SOD1-mediated damage within skeletal muscles does not contribute to death of motor neurons in ALS. (ebscohost.com)
Death of motor neurons1
Familial3
Mutations5
  • Mutations in genes directly involved in R-loop biology, such as SETX (senataxin), or unstable DNA expansion eliciting R-loop generation, such as C9ORF72 HRE, can cause DNA damage and ultimately result in motor neuron cell death. (springer.com)
  • The study, conducted by investigators at Cedars-Sinai and Washington University in St. Louis, also showed that patients with defects in two or more ALS-associated genes experience disease onset about 10 years earlier than patients with single-gene mutations. (healthcanal.com)
  • Baloh said the presence of the new and rare mutations, found among 17 genes already known to be associated with ALS, does not necessarily mean they all cause the disease. (healthcanal.com)
  • These methods rapidly identify mutations in novel genes, leading to discovery of the molecular mechanisms behind the disease state. (uottawa.ca)
  • In a disease state, several mutations in TDP-43 have been identified as a cause of some hereditary and sporadic ALS and FTD cases. (eurekalert.org)
Pathogenesis of the disease1
Brainstem and spinal cord1
Lower motor3
  • Objective To define patterns of spread through the order of lower motor neuron involvement (first, second or third order), relationships between interval or sites of affected areas from onset to involvement of a second region, and prognosis, including 5 year survival, normal preservation of motor function at onset of respiratory symptoms and cumulative occurrence of each region and direction of spread. (bmj.com)
  • The data support the contiguous anatomical propagation of lower motor neuron involvement in sporadic ALS. (bmj.com)
  • In addition, motor neurons at all levels of the spinal cord and brain stem were transduced, amounting to 3â€"5% of the lower motor neuron pool. (ebscohost.com)
Spinal motor neurons1
Muscles18
Terminal7
Life expectancy1
Degeneration of motor1
Progression of the disease3
  • There is a need to develop neuroprotective drugs which slow or stop the progression of the disease. (edu.au)
  • There was nothing that could be done to help stem the progression of the disease that made walking increasingly challenging, and caused the once capable athlete, who despite his deterioration continued to push himself to run, (albeit much slower and with obvious disability), to fall on a regular basis. (msworld.org)
  • His legacy in taking part in research was a hope for future generations - that something is found to stop the progression of the disease. (edu.au)
Treatments10
Centre3
  • Alongside this, we have committed to raise funds to create a Rare Dementia Support Centre as well as for research projects at the Centre for Neuromuscular Diseases. (nationalbrainappeal.org)
  • Professor Siddharthan Chandran is Director of the Euan MacDonald Centre for Motor Neurone Disease Research at the University of Edinburgh. (alsnewstoday.com)
  • Nucleofection من القوارض Neuroblasts لدراسة الهجرة أرومة عصبية Katarzyna Falenta* 1 , Sangeetha Gajendra* 2 , Martina Sonego 1 , Patrick Doherty 1 , Giovanna Lalli 1 1 Wolfson Centre for Age-Related Diseases, King's College London, 2 MRC Centre for Developmental Neurobiology, King's College London الهجرة أرومة عصبية هو خطوة حاسمة في تكوين الخلايا العصبية بعد الولادة. (jove.com)
Multiple sclerosis2
Gene7
Attacks3
Illness6
  • It's the incurable illness which has struck down hugely popular ex-Lions and Scotland lock Doddie Weir and last year claimed the life of South Africa legend Joost van der Westhuizen. (walesonline.co.uk)
  • Palliative care teams are made up of different healthcare professionals and can co-ordinate the care of people with an incurable illness. (www.nhs.uk)
  • Former Rangers football star Fernando Ricksen, who is battling incurable motor neurone disease, has stressed that he will continue fighting the degenerative illness without considering the option of euthanasia. (rt.com)
  • Because I know Colm, I regret to say that this is the second time I have had the misfortune of coming into indirect contact with this incurable and fatal illness. (irishcentral.com)
  • A courageous battler whose life was cruelly snatched away far too early by an incurable illness on this day in 2000 . (gazettelive.co.uk)
  • MND is currently incurable, and is characterised by weakness & wasting of the limbs - it's a cruel illness, exasperated by the fact that although the limbs, speech or torso may not respond from signals from the brain to operate, the brain remains fully functional. (bodminjail.org)
Neurological condition2
Cortex4
Degenerate2
Condition7
Stem-cell6
  • A landmark discovery using stem-cell technology could lead to the first clinical trials of drugs to defeat motor neuron disease within "five to ten years", according to British-led research. (thetimes.co.uk)
  • However, hopes of a treatment have risen in recent years as stem-cell science has provided the ability to model diseases in the laboratory. (thetimes.co.uk)
  • IN BRIEF: Scientists create a patient-specific stem cell line that can be used to better understand ALS and rapidly discover potential medicines for the disease. (als.net)
  • Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation. (als.net)
  • Researchers from the University of Bath are embarking on a project to use stem cell technology that could reduce the number of animal experiments used to study conditions such as motor neurone disease. (bath.ac.uk)
  • If you are seeking treatment of a disease or looking to slow down the aging process, we can help you with stem cell therapy. (placidway.com)
Remains incurable2
Symptoms of motor neuron1
Therapeutic3
Nerves2
Onset3
  • Crucially, ALS mice treated by CRISPR-mediated genome editing had ~50% more motor neurons at end stage and displayed a ~37% delay in disease onset and a ~25% increase in survival compared to control animals. (sciencemag.org)
  • Recent work in rodent models of ALS has shown that insulin-like growth factor-1 (IGF-1) slows disease progression when delivered at disease onset. (ebscohost.com)
  • Background: Giant Axonal Neuropathy (GAN) is a fatal neurodegenerative disorder with early onset characterized by a severe deterioration of the peripheral and central nervous system, involving both the motor and the sensory tracts and leading to ataxia, speech defect and intellectual. (ebscohost.com)
Hereditary2
Muscle atrophy1
Protein12
  • Takalo M, Salminen A, Soininen H et al (2013) Protein aggregation and degradation mechanisms in neurodegenerative diseases. (springer.com)
  • And by adding the supplemental C9 protein, the researchers could stop the motor nerve cells from degenerating. (innovations-report.com)
  • Ludwig-Maximilians-Universitaet (LMU) in Munich researchers have characterized the mechanism that initiates the pathological aggregation of the protein FUS, which plays a central role in two distinct neurodegenerative diseases. (eurekalert.org)
  • As a result, the protein accumulates in the cytoplasm of these neurons and coagulates into so-called stress granules. (eurekalert.org)
  • It centers on a protein, GDNF, that promotes the survival of neurons. (eurekalert.org)
  • In theory, transporting GDNF into the spinal cord could protect neurons and slow disease progression, but attempts so far have failed, largely because the protein does not readily penetrate into the spinal cord. (eurekalert.org)
  • It seems clear that GDNF has potent neuroprotective effects on motor neuron function when the protein is delivered at the level of the muscle, regardless of the delivery method. (eurekalert.org)
  • Neurodegenerative diseases are increasingly being realized to have common cellular and molecular mechanisms including protein misfolding and aggregation. (eurekalert.org)
  • In nearly half of all FTD cases and in 97% of the ALS cases, there is an accumulation of the protein TDP-43 in the affected neurons, the basic working units of the nervous system. (eurekalert.org)
  • In a non-disease state, TDP-43 is an important protein involved in various aspects of the metabolism of RNA, a molecule essential in various biological roles in the regulation and expression of genes. (eurekalert.org)
  • We show for the first time that VAPB protein levels are reduced in ALS8-derived motor neurons but, in contrast to over-expression systems, cytoplasmic aggregates could not be identified. (nih.gov)
  • Aberrations in homeostatic processes leading to protein aggregation and mitochondrial dysfunction may arise intrinsically in substantia nigra pars compacta dopaminergic neurons as a result of impairments in the ubiquitin-proteasome system, failure in autophagy-mediated clearance, alterations of mitochondrial dynamics, redox imbalance, iron mishandling, dopamine dysregulation, or simply from the chronic pace-making activity of nigra-localized L-type calcium channels, or extrinsically from non-autonomous sources of stress. (frontiersin.org)
Noel Conway2
Neuroprotective effects2
Substantia1
Parkinson's Disease2
more