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)
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.
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)
Neurons which activate MUSCLE CELLS.
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.
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.
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.
An island in Micronesia, east of the Philippines, the largest and southernmost of the Marianas. Its capital is Agana. It was discovered by Magellan in 1521 and occupied by Spain in 1565. They ceded it to the United States in 1898. It is an unincorporated territory of the United States, administered by the Department of the Interior since 1950. The derivation of the name Guam is in dispute. (From Webster's New Geographical Dictionary, 1988, p471)
A glutamate antagonist (RECEPTORS, GLUTAMATE) used as an anticonvulsant (ANTICONVULSANTS) and to prolong the survival of patients with AMYOTROPHIC LATERAL SCLEROSIS.
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.
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)
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
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.
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.
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
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.
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)
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.
MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.
A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.
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)
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)
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.
Laboratory rats that have been produced from a genetically manipulated rat EGG or rat EMBRYO, MAMMALIAN. They contain genes from another species.
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.
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.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
A lithium salt, classified as a mood-stabilizing agent. Lithium ion alters the metabolism of BIOGENIC MONOAMINES in the CENTRAL NERVOUS SYSTEM, and affects multiple neurotransmission systems.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A plant genus of the family Cycadaceae, order Cycadales, class Cycadopsida, division CYCADOPHYTA of palm-like trees. It is a source of CYCASIN, the beta-D-glucoside of methylazoxymethanol.
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the BLOOD-BRAIN BARRIER. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with MICROGLIA) respond to injury.
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.
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.
A glutamate plasma membrane transporter protein found in ASTROCYTES and in the LIVER.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The third type of glial cell, along with astrocytes and oligodendrocytes (which together form the macroglia). Microglia vary in appearance depending on developmental stage, functional state, and anatomical location; subtype terms include ramified, perivascular, ameboid, resting, and activated. Microglia clearly are capable of phagocytosis and play an important role in a wide spectrum of neuropathologies. They have also been suggested to act in several other roles including in secretion (e.g., of cytokines and neural growth factors), in immunological processing (e.g., antigen presentation), and in central nervous system development and remodeling.
Fibers that arise from cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord. Many authorities say the pyramidal tracts include both the corticospinal and corticobulbar tracts.
A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)
Proteins produced from GENES that have acquired MUTATIONS.
Increased salivary flow.
A performance test based on forced MOTOR ACTIVITY on a rotating rod, usually by a rodent. Parameters include the riding time (seconds) or endurance. Test is used to evaluate balance and coordination of the subjects, particular in experimental animal models for neurological disorders and drug effects.
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
Techniques for administering artificial respiration without the need for INTRATRACHEAL INTUBATION.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
An enzyme that catalyzes the endonucleolytic cleavage of pancreatic ribonucleic acids to 3'-phosphomono- and oligonucleotides ending in cytidylic or uridylic acids with 2',3'-cyclic phosphate intermediates. EC 3.1.27.5.
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)
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.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.
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)
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability.
Type III intermediate filament proteins expressed mainly in neurons of the peripheral and CENTRAL NERVOUS SYSTEMS. Peripherins are implicated in neurite elongation during development and axonal regeneration after injury.
Processes involved in the formation of TERTIARY PROTEIN STRUCTURE.
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
An involuntary expression of merriment and pleasure; it includes the patterned motor responses as well as the inarticulate vocalization.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
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.
The synapse between a neuron and a muscle.
The non-neuronal cells of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu, participate in the BLOOD-BRAIN BARRIER and BLOOD-RETINAL BARRIER, form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.
The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.
A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)
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.
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)
Equipment that provides mentally or physically disabled persons with a means of communication. The aids include display boards, typewriters, cathode ray tubes, computers, and speech synthesizers. The output of such aids includes written words, artificial speech, language signs, Morse code, and pictures.
A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.
Surgical formation of an opening into the trachea through the neck, or the opening so created.
An intermediate filament protein found only in glial cells or cells of glial origin. MW 51,000.
The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion.
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.
A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A highly conserved 76-amino acid peptide universally found in eukaryotic cells that functions as a marker for intracellular PROTEIN TRANSPORT and degradation. Ubiquitin becomes activated through a series of complicated steps and forms an isopeptide bond to lysine residues of specific proteins within the cell. These "ubiquitinated" proteins can be recognized and degraded by proteosomes or be transported to specific compartments within the cell.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
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.
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.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Compounds with a five-membered heterocyclic ring with two nitrogens and a keto OXYGEN. Some are inhibitors of TNF-ALPHA production.
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
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)
A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
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.
A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)
The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Elements of limited time intervals, contributing to particular results or situations.
Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.
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.

A clinical study of motor evoked potentials using a triple stimulation technique. (1/1872)

Amplitudes of motor evoked potentials (MEPs) are usually much smaller than those of motor responses to maximal peripheral nerve stimulation, and show marked variation between normal subjects and from one stimulus to another. Consequently, amplitude measurements have low sensitivity to detect central motor conduction failures due to the broad range of normal values. Since these characteristics are mostly due to varying desynchronization of the descending action potentials, causing different degrees of phase cancellation, we applied the recently developed triple stimulation technique (TST) to study corticospinal conduction to 489 abductor digiti minimi muscles of 271 unselected patients referred for possible corticospinal dysfunction. The TST allows resynchronization of the MEP, and thereby a quantification of the proportion of motor units activated by the transcranial stimulus. TST results were compared with those of conventional MEPs. In 212 of 489 sides, abnormal TST responses suggested conduction failure of various degrees. By contrast, conventional MEPs detected conduction failures in only 77 of 489 sides. The TST was therefore 2.75 times more sensitive than conventional MEPs in disclosing corticospinal conduction failures. When the results of the TST and conventional MEPs were combined, 225 sides were abnormal: 145 sides showed central conduction failure, 13 sides central conduction slowing and 67 sides both conduction failure and slowing. It is concluded that the TST is a valuable addition to the study of MEPs, since it improves detection and gives quantitative information on central conduction failure, an abnormality which appears to be much more frequent than conduction slowing. This new technique will be useful in following the natural course and the benefit of treatments in disorders affecting central motor conduction.  (+info)

Nitric oxide, mitochondria and neurological disease. (2/1872)

Damage to the mitochondrial electron transport chain has been suggested to be an important factor in the pathogenesis of a range of neurological disorders, such as Parkinson's disease, Alzheimer's disease, multiple sclerosis, stroke and amyotrophic lateral sclerosis. There is also a growing body of evidence to implicate excessive or inappropriate generation of nitric oxide (NO) in these disorders. It is now well documented that NO and its toxic metabolite, peroxynitrite (ONOO-), can inhibit components of the mitochondrial respiratory chain leading, if damage is severe enough, to a cellular energy deficiency state. Within the brain, the susceptibility of different brain cell types to NO and ONOO- exposure may be dependent on factors such as the intracellular reduced glutathione (GSH) concentration and an ability to increase glycolytic flux in the face of mitochondrial damage. Thus neurones, in contrast to astrocytes, appear particularly vulnerable to the action of these molecules. Following cytokine exposure, astrocytes can increase NO generation, due to de novo synthesis of the inducible form of nitric oxide synthase (NOS). Whilst the NO/ONOO- so formed may not affect astrocyte survival, these molecules may diffuse out to cause mitochondrial damage, and possibly cell death, to other cells, such as neurones, in close proximity. Evidence is now available to support this scenario for neurological disorders, such as multiple sclerosis. In other conditions, such as ischaemia, increased availability of glutamate may lead to an activation of a calcium-dependent nitric oxide synthase associated with neurones. Such increased/inappropriate NO formation may contribute to energy depletion and neuronal cell death. The evidence available for NO/ONOO--mediated mitochondrial damage in various neurological disorders is considered and potential therapeutic strategies are proposed.  (+info)

The role of immunophilins in mutant superoxide dismutase-1linked familial amyotrophic lateral sclerosis. (3/1872)

It has been reported that expression of familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu/Zn superoxide dismutase-1 (SOD) induces apoptosis of neuronal cells in culture associated with an increase in reactive oxygen species. SOD recently has been shown to prevent calcineurin inactivation, initiating the present investigations examining the role of calcineurin in mutant SOD-induced cell death. Wild-type or mutant SOD was expressed in neuronal cells by infection with replication-deficient adenoviruses. PC12 cells overexpressing human wild-type SOD exhibited higher calcineurin activity than cells expressing FALS-related mutant SOD (SODV148G); however, cells expressing SODV148G had calcineurin activity equal to mock-infected cells, suggesting that cell death induced by mutant SOD was not related to a decrease in calcineurin activity. Calcineurin antagonists such as cyclosporin A and FK506, as well as nonimmunosuppressant analogs of cyclosporin A, significantly enhanced SODV148G- and SODA4V-induced cell death. Because both groups of drugs inhibit the rotamase activity of cyclophilins (CyP), but only the immunosuppressant analogs inhibit calcineurin activity, these data suggest that rotamase inhibition underlies the enhanced cell death after SODV148G expression. The importance of rotamase activity in mutant SOD-mediated apoptosis was supported by experiments showing that overexpressed wild-type cyclophilin A (CyPA), but not CyPA with a rotamase active site point mutation, protected cells from death after SODV148G expression. These data suggest that mutant SOD produces a greater need for rotamase and, also, highlights possible new therapeutic strategies in FALS.  (+info)

Release of copper ions from the familial amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutants. (4/1872)

Point mutations of Cu,Zn-superoxide dismutase (SOD) have been linked to familial amyotrophic lateral sclerosis (FALS). We reported that the Swedish FALS Cu,Zn-SOD mutant, D90A, exhibited an enhanced hydroxyl radical-generating activity, while its dismutation activity was identical to that of the wild-type enzyme (Kim et al. 1998a; 1998b). Transgenic mice that express a mutant Cu,Zn-SOD, Gly93 --> Ala (G93A), have been shown to develop amyotrophic lateral sclerosis (ALS) symptoms. We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities. Our results showed that the G93A, the D90A, and the wild-type enzymes have identical dismutation activity. However, the hydroxyl radical-generating activity of the G93A mutant was enhanced relative to those of the D90A and the wild-type enzyme (wild-type < D90A < G93A). These higher free radical-generating activities of mutants facilitated the release of copper ions from their own molecules (wild-type < D90A < G93A). The released copper ions can enhance the Fenton-like reaction to produce hydroxyl radicals and play a major role in the oxidative damage of macromolecules. Thus, the FALS symptoms may be associated with the enhancements in both the free radical-generating activity and the releasing of copper ions from the mutant enzyme.  (+info)

Amyotrophic lateral sclerosis: Lou Gehrig's disease. (5/1872)

Amyotrophic lateral sclerosis (ALS), commonly called Lou Gehrig's disease, is a progressive neuromuscular condition characterized by weakness, muscle wasting, fasciculations and increased reflexes. Approximately 30,000 Americans currently have the disease. The annual incidence rate is one to two cases per 100,000. The disease is most commonly diagnosed in middle age and affects more men than women. It usually presents with problems in dexterity or gait resulting from muscle weakness. Difficulty in speaking or swallowing is the initial symptom in the bulbar form of the disease. Over a period of months or years, patients with ALS develop severe, progressive muscular weakness and other symptoms caused by loss of function in both upper and lower motor neurons. Sphincter control, sensory function, intellectual abilities and skin integrity are preserved. Patients become completely disabled, often requiring ventilatory support and gastrostomy. Death usually occurs within five years of diagnosis and is attributed to respiratory failure or cachexia. The etiology of the disease is unknown. Current research is focused on abnormalities of neuronal cell metabolism involving glutamate and the role of potential neurotoxins and neurotrophic factors. New drugs are being developed based on these theories. Current management involves aggressive, individualized alleviation of symptoms and complications.  (+info)

Atypical form of amyotrophic lateral sclerosis. (6/1872)

OBJECTIVE: To investigate patients with an unusual type of muscular atrophy confined to the upper limbs (proximally dominant) and the shoulder girdle, while sparing the face and the legs until the terminal stage. METHODS: Eight patients (six men and two women) were clinically examined. The age at onset ranged from 42 to 73 years, and the clinical course varied from 28 to 81 months. There was no family history of motor neuron disease in any of these patients. Necropsy was performed in two of them. RESULTS: All eight patients basically showed a similar distribution of muscular weakness and atrophy. Subluxation of the shoulder joints was found in all patients. Reflexes were absent in the upper limbs in all patients, but were almost normal in the face and legs in most patients. Pathological reflexes could be elicited in only one patient. Electromyography showed typical neurogenic changes in the limbs of all patients. Cervical MRI disclosed moderate spondylotic changes in seven patients. Antiganglioside antibodies were negative in six patients tested. Abnormal trinucleotide (CAG) repeat expansion of androgen receptor gene was not recognised in five patients examined. Bulbar involvement developed in three patients during the course of the disease. At necropsy, one patient showed degeneration of the pyramidal tracts and motor cortex including Betz cells as well as loss of spinal anterior horn cells and brainstem motor neurons, which is consistent with ALS; in another patient there was neuronal loss of anterior horn cells at the spinal cord accompanied by astrogliosis, whereas the motor cortex and brainstem motor nuclei were relatively well preserved. Intracytoplasmic inclusions such as Bunina bodies, skein-like inclusions, and Lewy body-like inclusions were found in both patients. CONCLUSION: These patients with their peculiar pattern of muscular atrophy seem to have ALS or a subtype of ALS.  (+info)

Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. (7/1872)

Mutations in superoxide dismutase 1 (SOD1) polypeptides cause a form of familial amyotrophic lateral sclerosis (FALS). In different kindreds, harboring different mutations, the duration of illness tends to be similar for a given mutation. For example, patients inheriting a substitution of valine for alanine at position four (A4V) average a 1.5 year life expectancy after the onset of symptoms, whereas patients harboring a substitution of arginine for histidine at position 46 (H46R) average an 18 year life expectancy after disease onset. Here, we examine a number of biochemical and biophysical properties of nine different FALS variants of SOD1 polypeptides, including enzymatic activity (which relates indirectly to the affinity of the enzyme for copper), polypeptide half-life, resistance to proteolytic degradation and solubility, in an effort to determine whether a specific property of these enzymes correlates with clinical progression. We find that although all the mutants tested appear to be soluble, the different mutants show a remarkable degree of variation with respect to activity, polypeptide half-life and resistance to proteolysis. However, these variables do not stratify in a manner that correlates with clinical progression. We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes.  (+info)

Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion. (8/1872)

Three patients with sporadic amyotrophic lateral sclerosis (ALS) presented with a history of backward falls. Impaired postural reflexes and retropulsion accompanied clinical features of ALS. Hypokinesia, decreased arm swing, and a positive glabellar tap were noted in two of these three patients. Cognitive impairment, tremor, axial rigidity, sphincter dysfunction, nuchal dystonia, dysautonomia, and oculomotor dysfunction were absent. Brain MRI disclosed bilateral T2 weighted hyperintensities in the internal capsule and globus pallidus in one patient. Necropsy studies performed late in the course of ALS have shown degeneration in extrapyramidal sites-for example, the globus pallidus, thalamus, and substantia nigra. Clinically, backward falls and retropulsion may occur early in ALS. This may reflect extrapyramidal involvement.  (+info)

Microglial cell-associated neuroinflammation is considered as a potential contributor to the pathophysiology of sporadic amyotrophic lateral sclerosis. However, the specific role of microglia in the disease pathogenesis remains to be elucidated. We studied the activation profiles of the microglial cultures exposed to the cerebrospinal fluid from these patients which recapitulates the neurodegeneration seen in sporadic amyotrophic lateral sclerosis. This was done by investigating the morphological and functional changes including the expression levels of prostaglandin E2 (PGE2), cyclooxygenase-2 (COX-2), TNF-α, IL-6, IFN-γ, IL-10, inducible nitric oxide synthase (iNOS), arginase, and trophic factors. We also studied the effect of chitotriosidase, the inflammatory protein found upregulated in the cerebrospinal fluid from amyotrophic lateral sclerosis patients, on these cultures. We report that the cerebrospinal fluid from amyotrophic lateral sclerosis patients could induce an early and potent response
Fingerprint Dive into the research topics of Immunoglobulins from animal models of motor neuron disease and from human amyotrophic lateral sclerosis patients passively transfer physiological abnormalities to the neuromuscular junction. Together they form a unique fingerprint. ...
TY - JOUR. T1 - Stem-cell transplantation into the frontal motor cortex in amyotrophic lateral sclerosis patients. AU - Martinez, Hector R.. AU - Gonzalez-Garza, Maria T.. AU - Moreno-Cuevas, Jorge E.. AU - Caro, Enrique. AU - Gutierrez-Jimenez, Eugenio. AU - Segura, Jose J.. PY - 2009/1/1. Y1 - 2009/1/1. N2 - Background aims: Amyotrophic lateral sclerosis (ALS) is characterized by the selective death of motor neurons. CD133 + stem cells are known to have the capacity to differentiate into neural lineages. Stem cells may provide an alternative treatment for ALS and other neurodegenerative diseases. Methods: Five men and five women (aged 38-62 years) with confirmed ALS were included in this study. Our institutional ethics and research committees approved the protocol. After informed consent was obtained, patients underwent Hidrogen-Magnetic Resonance Imaging (H-MRI) spectroscopy and were given scores according to an ALS functional rating scale, Medical Research Council power muscle scale and ...
TY - JOUR. T1 - Activation of signal transducer and activator of transcription-3 in the spinal cord of sporadic amyotrophic lateral sclerosis patients. AU - Shibata, Noriyuki. AU - Kakita, Akiyoshi. AU - Takahashi, Hitoshi. AU - Ihara, Yuetsu. AU - Nobukuni, Keigo. AU - Fujimura, Harutoshi. AU - Sakoda, Saburo. AU - Sasaki, Shoichi. AU - Iwata, Makoto. AU - Morikawa, Shunichi. AU - Hirano, Asao. AU - Kobayashi, Makio. N1 - Copyright: Copyright 2009 Elsevier B.V., All rights reserved.. PY - 2009/5. Y1 - 2009/5. N2 - Background: Neuroinflammation has been implicated in the pathomechanism of amyotrophic lateral sclerosis (ALS). It is known that signal transducer and activator of transcription-3 (STAT3) is a proinflammatory transcription factor. However, it remains to be determined whether STAT3 is involved in ALS. Objective: To test the hypothesis that STAT3 may be upregulated, activated, or both in the spinal cord of ALS patients. Methods: We performed immunohistochemical, immunoblot and ...
Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrigs disease is a disease of the motor nerve cells in the brain and spinal cord. ALS is caused by progressive loss of motor nerves in these areas and affects approximately 1 out of 100,000 people. The diagnosis of ALS is usually based on clinical features, electrodiagnostic testing (EMG), and exclusion of other health conditions with related symptoms. Most people with amyotrophic lateral sclerosis have a form of the condition that is described as sporadic or noninherited. The cause of sporadic amyotrophic lateral sclerosis is largely unknown but probably involves a combination of genetic and environmental factors. About 10 percent of people with amyotrophic lateral sclerosis have a familial form of the condition, which is caused by an inherited genetic mutation ...
Recent metabolomic reports connect dysregulation of glycosphingolipids, particularly ceramide and glucosylceramide, to neurodegeneration and to motor unit dismantling in amyotrophic lateral sclerosis at late disease stage. We report here altered levels of gangliosides in the cerebrospinal fluid of amyotrophic lateral sclerosis patients in early disease stage. Conduritol B epoxide is an inhibitor of acid beta-glucosidase, and lowers glucosylceramide degradation. Glucosylceramide is the precursor for all of the more complex glycosphingolipids. In SOD1G86R mice, an animal model of amyotrophic lateral sclerosis, conduritol B epoxide preserved ganglioside distribution at the neuromuscular junction, delayed disease onset, improved motor function and preserved motor neurons as well as neuromuscular junctions from degeneration. Conduritol B epoxide mitigated gene dysregulation in the spinal cord and restored the expression of genes involved in signal transduction and axonal elongation. Inhibition of acid beta
Amyotrophic lateral sclerosis, or known as ALS, motor neuron disease, or upper and lower motor neuron disease, is a severe neurological disorder in brain and spinal cord that is characterized by disorders of voluntary muscle movement such as muscle weakness, permanent disability, until death. It is also called Lou Gehrigs disease because there was a basketball player named Lou Gehrig who died of this disease. Amyotrophic lateral sclerosis is a very uncommon disease who occurs at 5 of 100,000 people in the world. The risk exact causes of amyotrophic lateral sclerosis is still unknown, but generally it is a hereditary disease. Researchers also found that amyotrophic lateral sclerosis is caused by gene mutation, bad immune response, and chemical substance imbalance such as too much glutamate ...
Amyotrophic Lateral Sclerosis (ALS), Read about Amyotrophic Lateral Sclerosis (ALS) symptoms, causes, diagnosis, and treatment. Also read Amyotrophic Lateral Sclerosis (ALS) articles about how to live with Amyotrophic Lateral Sclerosis (ALS), and more.
BACKGROUND: Although an increasing role of genetic susceptibility has been recognized, the role of environmental risk factors in amyotrophic lateral sclerosis (ALS) etiology is largely uncertain; among neurotoxic chemicals, epidemiological and biological plausibility has been provided for pesticides, the heavy metal lead, the metalloid selenium, and other persistent organic pollutants. Selenium involvement in ALS has been suggested on the basis of epidemiological studies, in vitro investigations, and veterinary studies in which selenium induced a selective toxicity against motor neurons. OBJECTIVE: Hypothesizing a multistep pathogenic mechanism (genetic susceptibility and environmental exposure), we aimed to study selenium species in ALS patients carrying disease-associated gene mutations as compared to a series of hospital controls. METHODS: Using advanced analytical techniques, we determined selenium species in cerebrospinal fluid sampled at diagnosis in 9 ALS patients carrying different gene ...
Amyotrophic Lateral Sclerosis; Lou Gehrig Disease; Motor Neuron Disease, Amyotrophic Lateral Sclerosis. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
ObjectiveTo describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease.Desig
Title: Molecular and Cellular Mechanism of Glutamate Receptors in Relation to Amyotrophic Lateral Sclerosis. VOLUME: 1 ISSUE: 5. Author(s): Yasuo Iwasaki, Ken Ikeda and Masao Kinoshita. Affiliation:Fourth Department of Internal Medicine, Toho University Ohashi Hospital, 2-17-6, Ohashi, Meguro-ku, Tokyo 153-8515, Japan.. Keywords:excitatory amino acids, glutamate, glutamate receptors, excitotoxicity, amyotrophic lateral sclerosis. Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder of the central nervous system (CNS) with an unknown etiology. This disorder is characterized clinically by muscular weakness and wasting, and pathologically by selective degeneration of the corticospinal tracts and motor neurons of the brain stem and spinal cord. Median survival following onset is 3 to 5 years. Riluzole, an antiglutamatergic agent has been shown to have modest beneficial effects on survival. Glutamate is the main excitatory neurotransmitter in the CNS and excessive ...
TY - JOUR. T1 - Environmental and Occupational Exposures and Amyotrophic Lateral Sclerosis in New England. AU - Andrew, Angeline S.. AU - Caller, Tracie A.. AU - Tandan, Rup. AU - Duell, Eric J.. AU - Henegan, Patricia L.. AU - Field, Nicholas C.. AU - Bradley, Walter G. AU - Stommel, Elijah W.. PY - 2017/2/1. Y1 - 2017/2/1. N2 - Background: Recent data provide support for the concept that potentially modifiable exposures are responsible for sporadic amyotrophic lateral sclerosis (ALS). Objective: To evaluate environmental and occupational exposures as risk factors for sporadic ALS. Methods: We performed a case-control study of ALS among residents of New England, USA. The analysis compared questionnaire responses from 295 patients with a confirmed ALS diagnosis to those of 225 controls without neurodegenerative illness. Results: Self-reported job-or hobby-related exposure to one or more chemicals, such as pesticides, solvents, or heavy metals, increased the risk of ALS (adjusted OR 2.51; 95% CI ...
New life-saving treatments for Amyotrophic lateral sclerosis | chronic respiratory failure in clinical trial on Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis
Treatment for Amyotrophic Lateral Sclerosis. Find Doctors Near You, Book Appointment, Consult Online, View Doctor Fees, Address, Phone Numbers and Reviews. Doctors for Amyotrophic Lateral Sclerosis | Lybrate
Another name for Amyotrophic Lateral Sclerosis is Amyotrophic Lateral Sclerosis. The evaluation of amyotrophic lateral sclerosis begins with a history ...
Long interspersed element-1 (LINE-1/L1) is the only autonomous transposable element in the human genome that currently mobilises in both germline and somatic tissues. Recent studies have identified correlations between altered retrotransposon expression and the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a subset of patients. The risk of an individual developing ALS is dependent on an interaction of genetic variants and subsequent modifiers during life. These modifiers could include environmental factors, which can lead to epigenetic and genomic changes, such as somatic mutations, occurring in the neuronal cells that degenerate as the disease develops. There are more than 1 million L1 copies in the human genome today, but only 80-100 L1 loci in the reference genome are considered to be retrotransposition-competent (RC) and an even smaller number of these RC-L1s loci are highly active. We hypothesise that RC-L1s could affect normal cellular function through their mutagenic
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. ALS is not a pure motor neuronal syndrome; it extends beyond the motor system and affects extramotor areas of the brain as well. The majority of the patients suffer from a sporadic ALS disease (SALS) while in at least ten percent the disease appears in a familial form (FALS). Mutations in the gene encoding the antioxidant enzyme superoxide dismutase-1 (SOD1) are the most common cause of FALS. More than 165 SOD1 mutations have been described, and these confer the enzyme a cytotoxic gain of function. Evidence suggests that the toxicity results from structural instability which makes the mutated enzyme prone to misfold and form ...
ALS is characterized by oxidative damage in the brain and cerebrospinal fluid, which is exerted by pro-oxidative activity of iron. Such activity of iron can be drastically increased in the presence of inappropriate iron ligands that catalyze redox cycling of iron, thereby promoting hydroxyl radical generation. The aim of our study was to determine the relative level of inappropriate iron ligands in the cerebrospinal fluid of ALS patients. To determine the levels of inappropriate iron ligands and redox activity of iron in cerebrospinal fluid (10 samples from ALS patients and 10 controls), we applied electron paramagnetic resonance spectroscopy. We have shown that cerebrospinal fluid of ALS patients comprises twofold increased level of inappropriate iron ligands, proportionally increasing iron redox activity and hydroxyl radical production compared to controls. In conclusion, our results strongly support the pro-oxidative/detrimental role of inappropriately chelated iron in ALS pathophysiology. ...
TY - JOUR. T1 - Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis. AU - Takeuchi, Hideyuki. AU - Niwa, Jun Ichi. AU - Hishikawa, Nozomi. AU - Ishigaki, Shinsuke. AU - Tanaka, Fumiaki. AU - Doyu, Manabu. AU - Sobue, Gen. PY - 2004/4. Y1 - 2004/4. N2 - Dorfin is a RING-finger type ubiquitin ligase for mutant superoxide dismutase 1 (SOD1) that enhances its degradation. Mutant SOD1s cause familial amyotrophic lateral sclerosis (FALS) through the gain of unelucidated toxic properties. We previously showed that the accumulation of mutant SOD1 in the mitochondria triggered the release of cytochrome c, followed by the activation of the caspase cascade and induction of neuronal cell death. In the present study, therefore, we investigated whether Dorfin can modulate the level of mutant SOD1 in the mitochondria and subsequent caspase activation. We showed that Dorfin significantly reduced the ...
Objective:. The goal of this study is to see whether patterns of cerebral cortex dysfunction differ in Primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS). The function of several regions of the cerebral cortex will be assessed by clinical, physiological, and neuropsychological tests. Magnetic resonance imaging will be carried out in a subset of patients to explore the correlation between functional and anatomical measures of these cortical areas.. Study Population:. 30 patients with Primary lateral sclerosis who meet the diagnostic criteria for PLS proposed by Pringle and 30 patients with ALS who fulfill the revised El Escorial criteria for probable or definite ALS.. 30 healthy volunteers will be studied to provide training and practice in using the rating scales and to provide age-matched controls for EEG and imaging studies.. Design:. A screening examination will be carried out under protocol 01-N-0145 to determine eligibility. Patients and caregivers will return for two ...
Recently, rare mutations in the TARDBP gene have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to characterize the genetic variability of the TARDBP gene in a cohort of Sardinian ALS patients. The coding region of the gene was analyzed in 97 unrelated patients previously tested negative for superoxide dismutase (SOD1) mutations. The p.Ala382Thr (c.1144G,A) mutation was found in 30 patients (30.9%). The mutation was predominant in familial ALS patients (FALS) as it was represented in 24 of 30 FALS cases (80%) (p , 0.0003). Six cases were apparently sporadic (9% of sporadic ALS patients). No further mutation of TARDBP was found in our cohort of ALS patients. Patients carrying the mutation showed spinal site of onset in 24 cases (80%), an average age at onset of 54.7 ± 11.1 years, not significantly different from patients not harboring TARDBP mutations (56.7 ± 9.6) and a female:male gender ratio of 1:1.1. The haplotype ...
Result Median survival with combined type onset (two regions simultaneously) was shorter (18 months) than with bulbar onset (26 months, p=0.01). The interval from onset to involvement of the second region correlated significantly with survival, independent of particular combinations. 5 year survival rate was 21% for lower limb onset, 18% for upper limb onset and 16% for bulbar onset. No patient with a rapid spread pattern (two regions within 3 months from onset) survived ,5 years. Early manifestations of bulbar symptoms within 1 year were associated with worse survival (p,0.001) although no significant difference in survival was seen between groups with and without bulbar symptoms (p=0.51). In terms of cumulative occurrence, symptoms spread longitudinally to adjacent regions. Bulbar function remained preserved in 27%, lower limb function in 10% and upper limb function in 2.7%. ...
TY - JOUR. T1 - Reduced p75NTRexpression delays disease onset only in female mice of a transgenic model of familial amyotrophic lateral sclerosis. AU - Küst, B.M.. AU - Brouwer, N.. AU - Mantingh, I.J.. AU - Boddeke, H.W.G.M.. AU - Copray, J.C.V.M.. PY - 2003/6/1. Y1 - 2003/6/1. N2 - hSOD1 (G93A) transgenic mice develop pathological changes similar to those in patients with familial amyotrophic lateral sclerosis (FALS). In particular, the progressive degeneration of motoneurons is charactered in this mouse model. One feature of stressed motoneurons in ALS and the hSOD1 mice is the induction of the p75 neurotrophin receptor, which is thought, under certain circumstances, to be a death-signaling molecule. We have studied disease progression of hSOD1 (G93A) mice in the absence of the p75NTRreceptor and we monitored histological changes in the ventral spinal cord. Whereas female double transgenics showed prolonged survival, this effect was not observed in males. Improved survival in female mice was ...
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin : Dysfunction of alsin, particularly its putative Rab5 guanine-nucleotide-exchange factor activity, has been linked to one form of juvenile onset recessive familial amyotrophic lateral sclerosis (ALS2). Multiple lines of alsin knockout ( ALS2 -/- ) mice have been generated to model this disease. However, it remains elusive whether the Rab5-dependent endocytosis is altered in ALS2 -/- neurons. To
OBJECTIVE: To explore the value of diffusion tensor imaging applied to those specific cerebral white matter tracts consistently involved pathologically in amyotrophic lateral sclerosis as a source of prognostic biomarkers. DESIGN: Baseline clinical assessment and 3-T diffusion tensor imaging, repeated after approximately 6 months.Tract-based spatial statistics were used to assess voxel wise correlations of just the baseline diffusion tensor imaging indices with the progression rate (change in disability score/time interval) within the corticospinal tract and corpus callosum. PATIENTS: The study involved 21 patients with amyotrophic lateral sclerosis and 3 patients with primary lateral sclerosis. RESULTS: Correlation was observed between fractional anisotropy and progression rate for a region of the corticospinal tract spanning the posterior limb of the internal capsule, with a left hemisphere emphasis. Posterior limb of the internal capsule fractional anisotropy showed potential to distinguish those
OBJECTIVE: To explore the value of diffusion tensor imaging applied to those specific cerebral white matter tracts consistently involved pathologically in amyotrophic lateral sclerosis as a source of prognostic biomarkers. DESIGN: Baseline clinical assessment and 3-T diffusion tensor imaging, repeated after approximately 6 months.Tract-based spatial statistics were used to assess voxel wise correlations of just the baseline diffusion tensor imaging indices with the progression rate (change in disability score/time interval) within the corticospinal tract and corpus callosum. PATIENTS: The study involved 21 patients with amyotrophic lateral sclerosis and 3 patients with primary lateral sclerosis. RESULTS: Correlation was observed between fractional anisotropy and progression rate for a region of the corticospinal tract spanning the posterior limb of the internal capsule, with a left hemisphere emphasis. Posterior limb of the internal capsule fractional anisotropy showed potential to distinguish those
Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene. This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with Ataxia oculomotor apraxia type 2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). GRCh38: Ensembl release 89: ENSG00000107290 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000043535 - Ensembl, May 2017 Human PubMed Reference:. Mouse PubMed Reference:. Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR (Apr 1998). Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet. 62 (3): ...
BEVERLY EAVES PERDUE GOVERNOR AMYOTROPHIC LATERAL SCLEROSIS AWARENESS MONTH 2012 BY THE GOVERNOR OF THE STATE OF NORTH CAROLINA A PROCLAMATION WHEREAS, Amyotrophic Lateral Sclerosis (ALS) is better known as Lou Gehrigs disease; and WHEREAS, ALS is a fatal neurodegenerative disease characterized by degeneration of cell bodies of the upper and lower motor neurons in the gray matter of the anterior horns of the spinal cord; and WHEREAS, the initial symptom of ALS is weakness of the skeletal muscles, especially those of the extremities; and WHEREAS, as ALS progresses, the patient experiences difficulty in swallowing, talking and breathing; and WHEREAS, ALS eventually causes muscles to atrophy and the patient becomes a functional quadriplegic; and WHEREAS, because ALS does not affect mental capacity, patients remain alert and aware of loss of motor functions; and WHEREAS, there is no known cause, means of prevention or cure for ALS, and once diagnosed, patients succumb to the illness within two to ...
TY - JOUR. T1 - Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. AU - Cannon, Ashley. AU - Fujioka, Shinsuke. AU - Rutherford, Nicola J.. AU - Ferman, Tanis Jill. AU - Broderick, Daniel F.. AU - Boylan, Kevin B.. AU - Graff Radford, Neill R. AU - Uitti, Ryan J.. AU - Rademakers, Rosa V. AU - Wszolek, Zbigniew K. AU - Dickson, Dennis W. PY - 2013/5/7. Y1 - 2013/5/7. N2 - Objective: We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C,A) missense mutation. Methods: Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination. Results: The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia. Immunohistochemistry for TAR DNA-binding protein 43 (TDP-43) revealed variability in morphology and distribution of pathology. ...
We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene.. ...
The early motor manifestations of sporadic amyotrophic lateral sclerosis (ALS), while rarely documented, reflect failure of adaptive complex motor skills. The development of these skills correlates with progressive evolution of a direct corticomotoneuronal system that is unique to primates and markedly enhanced in humans. The failure of this system in ALS may translate into the split hand presentation, gait disturbance, split leg syndrome and bulbar symptomatology related to vocalisation and breathing, and possibly diffuse fasciculation, characteristic of ALS. Clinical neurophysiology of the brain employing transcranial magnetic stimulation has convincingly demonstrated a presymptomatic reduction or absence of short interval intracortical inhibition, accompanied by increased intracortical facilitation, indicating cortical hyperexcitability. The hallmark of the TDP-43 pathological signature of sporadic ALS is restricted to cortical areas as well as to subcortical nuclei that are under the direct ...
Amyotrophic lateral sclerosis as a system failure is a concept supported by the finding of consistent extramotor as well as motor cerebral pathology. The functional correlates of the structural changes detected using advanced magnetic resonance imaging techniques such as diffusion tensor imaging and voxel-based morphometry have not been extensively studied. A group of 25 patients with amyotrophic lateral sclerosis was compared to healthy control subjects using a multi-modal neuroimaging approach comprising T(1)-weighted, diffusion-weighted and resting-state functional magnetic resonance imaging. Using probabilistic tractography, a grey matter connection network was defined based upon the prominent corticospinal tract and corpus callosum involvement demonstrated by white matter tract-based spatial statistics. This amyotrophic lateral sclerosis-specific network included motor, premotor and supplementary motor cortices, pars opercularis and motor-related thalamic nuclei. A novel analysis protocol, using
Amyotrophic lateral sclerosis as a system failure is a concept supported by the finding of consistent extramotor as well as motor cerebral pathology. The functional correlates of the structural changes detected using advanced magnetic resonance imaging techniques such as diffusion tensor imaging and voxel-based morphometry have not been extensively studied. A group of 25 patients with amyotrophic lateral sclerosis was compared to healthy control subjects using a multi-modal neuroimaging approach comprising T(1)-weighted, diffusion-weighted and resting-state functional magnetic resonance imaging. Using probabilistic tractography, a grey matter connection network was defined based upon the prominent corticospinal tract and corpus callosum involvement demonstrated by white matter tract-based spatial statistics. This amyotrophic lateral sclerosis-specific network included motor, premotor and supplementary motor cortices, pars opercularis and motor-related thalamic nuclei. A novel analysis protocol, using
Dowload Sample Page for Amyotrophic lateral sclerosis (ALS) analysis. This report contains Amyotrophic lateral sclerosis (ALS) companies, epidemiology, drugs and market forecast upto 2030
BACKGROUND. The genetic contribution to sporadic amyotrophic lateral sclerosis (ALS) has not been fully elucidated. There are increasing efforts to characterise the role of copy number variants (CNVs) in human diseases; two previous studies concluded that CNVs may influence risk of sporadic ALS, with multiple rare CNVs more important than common CNVs. A little-explored issue surrounding genome-wide CNV association studies is that of post-calling filtering and merging of raw CNV calls. We undertook simulations to define filter thresholds and considered optimal ways of merging overlapping CNV calls for association testing, taking into consideration possibly overlapping or nested, but distinct, CNVs and boundary estimation uncertainty.. METHODOLOGY AND PRINCIPAL FINDINGS. In this study we screened Illumina 300K SNP genotyping data from 730 ALS cases and 789 controls for copy number variation. Following quality control filters using thresholds defined by simulation, a total of 11321 CNV calls were ...
Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. ALS is always fatal, usually through respiratory failure when the disease reaches muscles needed for breathing. Most cases are sporadic, but approximately 5-10% are familial. The first gene to be linked to familial ALS encodes the antioxidant enzyme superoxide dismutase-1 (SOD1). Today, more than 160 different mutations in SOD1 have been found in ALS patients. The mutant SOD1 proteins cause ALS by gain of a toxic property that should be common to all. Aggregates of SOD1 in motor neurons are hallmarks of ALS patients and transgenic models carrying mutant SOD1s, suggesting that misfolding, oligomerization, and aggregation of the protein may be involved in the pathogenesis. SOD1 is normally a very stable enzyme, but the structure has several components that make SOD1 sensitive to misfolding. The aim of the work in this thesis was to study misfolded SOD1 ...
Amyotrophic lateral sclerosis (ALS) is one of the progressive neurodegenerative disorders, affecting upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Hence, the signs of damage motor neurons are both at the peripheral (eg. atrophy), and central (eg. spasticity) level. There is no effective treatment for ALS and the majority of patients die within 5 years after diagnosis, usually due to respiratory failure. Numerous studies on murine models revealed that mesenchymal stem cells (MSCs) successfully improve the clinical and pathological features of ALS. The goal of this nonrandomized, open label study is to investigate the safety and tolerability of autologous bone marrow-derived mesenchymal stem cell transplantation into the individuals with diagnosed amyotrophic lateral sclerosis. This clinical trial is conducted to test the therapeutic (neuroprotective and paracrine) effect of autologous bone marrow-derived mesenchymal stem cells (BM-MSCs). All patients enrolled ...
TY - JOUR. T1 - Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype. AU - Lunetta, C.. AU - Sansone, V. A.. AU - Penco, S.. AU - Mosca, L.. AU - Tarlarini, C.. AU - Avemaria, F.. AU - Maestri, E.. AU - Melazzini, M. G.. AU - Meola, G.. AU - Corbo, M.. PY - 2014/4. Y1 - 2014/4. N2 - Background and purpose: The occurrence of amyotrophic lateral sclerosis (ALS) during pregnancy is uncommon and the effect of one on the other is not well described. Methods: The clinical and genetic features of five cases of ALS are reported with an onset during pregnancy or within 1 month from delivery. Charts from 239 women with a diagnosis of ALS attending the neuromuscular clinics at the Neuromuscular Omnicentre (NEMO) and at IRCCS Policlinico San Donato from 2008 to 2011 were reviewed. Results: Of these, 12.8% of the women in child-bearing age had a diagnosis of ALS during pregnancy or immediately after delivery. Genetic screening of the major ...
Major advance in genetic study of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) was identified by researchers in 2011.  A mutation known as a repeat expansion in an intron of the C9ORF72 gene was found to be the most important genetic risk factor for these disorders.  Most healthy people have 25 or fewer copies of the repeat, whereas mutation carriers can have 700 copies or more. The mutation explains roughly half of familial ALS cases and about a quarter of inherited FTLD, as well as some sporadic cases. However, scientists have since puzzled over how that mutation promotes disease. Researchers in Germany report in Science the surprising news that the intron expansions are translated into proteins. Being an expanded hexanucleotide repeat in an intron (i.e., non-coding region of DNA) the mutation should not affect the protein ...
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative, clinically heterogeneous syndrome pathologically overlapping with frontotemporal dementia. To date, therapeutic trials in animal models have not been able to predict treatment response in humans, and the revised ALS Functional Rating Scale, which is based on coarse disability measures, remains the gold-standard measure of disease progression. Advances in neuroimaging have enabled mapping of functional, structural, and molecular aspects of ALS pathology, and these objective measures may be uniquely sensitive to the detection of propagation of pathology in vivo. Abnormalities are detectable before clinical symptoms develop, offering the potential for neuroprotective intervention in familial cases. Although promising neuroimaging biomarker candidates for diagnosis, prognosis, and disease progression have emerged, these have been from the study of necessarily select patient cohorts identified in specialized referral centers. Further
Amyotrophic lateral sclerosis (ALS) is characterized by adult-onset progressive degeneration of upper and lower motor neurons. Increasing numbers of genes are found to be associated with ALS; among those, the first identified gene, SOD1 coding a Cu/Zn-superoxide dismutase protein (SOD1), has been regarded as the gold standard in the research on a pathomechanism of ALS. Abnormal accumulation of misfolded SOD1 in affected spinal motor neurons has been established as a pathological hallmark of ALS caused by mutations in SOD1 (SOD1-ALS). Nonetheless, involvement of wild-type SOD1 remains quite controversial in the pathology of ALS with no SOD1 mutations (non-SOD1 ALS), which occupies more than 90% of total ALS cases. In vitro studies have revealed post-translationally controlled misfolding and aggregation of wild-type as well as of mutant SOD1 proteins; therefore, SOD1 proteins could be a therapeutic target not only in SOD1-ALS but also in more prevailing cases, non-SOD1 ALS. In order to search for evidence
Amyotrophic lateral sclerosis (ALS) is a devastating neurological syndrome in which motor neurons degenerate relentlessly. Although the site of onset and the rate of spread have been studied extensively, little is known about whether focal as opposed to diffuse disease affects prognosis. We therefore tested the hypothesis that regionality of disease burden is a prognostic factor in ALS. We analysed clinical data from two large multicentre, longitudinal trials. Regionality was defined as the difference in progression rates in three domains as measured by the revised ALS Functional Rating Scale, omitting the respiratory domain from analysis. We used death by trial end as the outcome variable and tested this by logistic regression against predictor variables including regionality and overall rate of disease progression. There were 561 patients. Regionality of disease was independently associated with significantly higher chance of death by study end (odds ratio most diffuse against most focal category 0
TY - JOUR. T1 - Rapidly progressive amyotrophic lateral sclerosis is associated with microglial reactivity and small heat shock protein expression in reactive astrocytes. AU - Gorter, R. P.. AU - Stephenson, J.. AU - Nutma, E.. AU - Anink, J.. AU - de Jonge, J. C.. AU - Baron, W.. AU - Jahreiss, M. -C.. AU - Belien, J. A. M.. AU - van Noort, J. M.. AU - Mijnsbergen, C.. AU - Aronica, E.. AU - Amor, S.. N1 - This article is protected by copyright. All rights reserved.. PY - 2019/8. Y1 - 2019/8. N2 - AIMS: Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease characterised by progressive loss of motor neurons, muscle weakness, spasticity, paralysis and death usually within 2-5 years of onset. Neuroinflammation is a hallmark of ALS pathology characterized by activation of glial cells, which respond by upregulating small heat shock proteins (HSPBs), but the exact underlying pathological mechanisms are still largely unknown. Here, we investigated the association between ALS ...
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrigs disease, is a rare disease with extreme between-subject variability, especially with respect to rate of disease progression. This makes modelling a subjects disease progression, which is measured by the ALS Functional Rating Scale (ALSFRS), very difficult. Consider the problem of predicting a subjects ALSFRS score at 9 or 12 months after a given time-point. We obtained ALS subject data from the Pooled Resource Open-Access ALS Clinical Trials Database, a collection of data from various ALS clinical trials. Due to the typical linearity of the ALSFRS, we consider several Bayesian hierarchical linear models. These include a mixture model (to account for the two potential classes of
Title:Metallothionein is a Potential Therapeutic Strategy for Amyotrophic Lateral Sclerosis. VOLUME: 23 ISSUE: 33. Author(s):Shin-ichi Ono*. Affiliation:Laboratory of Clinical Medicine, School of Pharmacy, Nihon University, 7-1, 7-chome, Narashinodai, Funabashi, Chiba 274-8555. Keywords:Metallothionein, intracellular Cu homeostasis, SOD1 mutation, cysteine111, Cu chaperons, Cu secretion.. Abstract:Lou Gehrigs disease, a synonym of amyotrophic lateral sclerosis, is an adult-onset lethal neurodegenerative disorder. Irrespective of extensive efforts to elucidate the pathogenesis of the disease and searches for therapies, no favorable pharmacotherapeutic strategies have yet to be proposed. In a popular rodent model of ALS, G93A SOD1 strain of mouse, intracellular copper conditions were geared toward copper accumulation inside cells, resulting in an acceleration of oxidative stress and apoptotic process. Disruption of intracellular copper homeostasis was common to transgenic mice expressing human ...
What is amyotrophic lateral sclerosis? Amyotrophic lateral sclerosis, or ALS, is a disease in which certain nerve cells in the brain and spinal cord slowly die. These nerve cells are called motor neurons, and they control the muscles that allow you to move the parts of your body. ALS is also called Lou Gehrigs...
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in death, usually from respiratory failure, within 2-3 years of symptom onset. Non-invasive ventilation (NIV) is a treatment that when given to patients in respiratory failure leads to improved survival and quality of life. Diaphragm pacing (DP), using the NeuRx/4(®) diaphragm pacing system (DPS)™ (Synapse Biomedical, Oberlin, OH, USA), is a new technique that may offer additional or alternative benefits to patients with ALS who are in respiratory failure. OBJECTIVE: The Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis (DiPALS) trial evaluated the effect of DP on survival over the study duration in patients with ALS with respiratory failure. DESIGN: The DiPALS trial was a multicentre, parallel-group, open-label, randomised controlled trial incorporating health economic analyses and a qualitative longitudinal substudy. PARTICIPANTS: Eligible participants had a diagnosis of ALS (ALS ...
Amyotrophic lateral sclerosis definition is - a rare progressive degenerative fatal disease affecting the motor neurons, usually beginning in middle age, and characterized especially by increasing and spreading muscular weakness and atrophy -abbreviation ALS-called also Lou Gehrigs disease.
Revised criteria for the diagnosis of amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis and Other Motor Neuron ... "Edaravone and its clinical development for amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 18 (sup 1): 5-10. doi ... Amyotrophic Lateral Sclerosis. CRC Press. p. 9. ISBN 978-0824729240. .. *^ Gordon PH (October 2013). "Amyotrophic Lateral ... Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis)". Neurologic ...
Amyotrophic lateral sclerosis[edit]. Amyotrophic lateral sclerosis ( Lou Gehrig disease ) is a disease that causes degeneration ... In amyotrophic lateral sclerosis, Onuf's nucleus is preserved but the other anterior horn cell groups atrophy. This discovery ... Both cell types are spared by amyotrophic lateral sclerosis.[5]. *Onuf's nucleus cells are anatomically linked with the sacral ... Patients with amyotrophic lateral sclerosis also contain less RNA in their motoneurons than normal individuals. The decrease in ...
Amyotrophic lateral sclerosis (ALS)[edit]. Main article: Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis (ALS), ... 2.1 Amyotrophic lateral sclerosis (ALS) *2.1.1 Genetics and underlying causes. *2.1.2 Epigenetic treatment with HDAC inhibitors ... "Combined riluzole and sodium phenylbutyrate therapy in transgenic amyotrophic lateral sclerosis mice". primary. Amyotrophic ... Disease: amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Huntington's disease (HD), spinal muscular atrophy (SMA ...
Amyotrophic lateral sclerosis (ALS)[edit]. Main article: Amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis (ALS or ... Many neurodegenerative diseases - including amyotrophic lateral sclerosis, Parkinson's disease, Alzheimer's disease, and ... and Amyotrophic lateral sclerosis.[4] Neurons are particularly vulnerable to oxidative damage due to their strong metabolic ... amyotrophic lateral sclerosis, ataxia telangiectasia, Cockayne syndrome, Parkinson's disease and xeroderma pigmentosum.[17][16] ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
... primary lateral sclerosis, neuromyotonia, and some psychogenic disorders.[2] Tetanus, neuroleptic malignant syndrome, malignant ... hyperpyrexia, chronic spinal interneuronitis, serotonin syndrome,[30] Multiple sclerosis, Parkinson's disease,[22] and Isaacs ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ... These shunts are inserted in one of the lateral ventricles of the brain, usually by stereotactic surgery, and then connected ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ... In subacute combined degeneration of spinal cord, the "combined" refers to the fact that the dorsal columns and lateral ... The pathological findings of subacute combined degeneration consist of patchy losses of myelin in the dorsal and lateral ... Posterior column dysfunction decreases vibratory sensation and proprioception (joint sense). Lateral corticospinal tract ...
Rowland LP, Shneider NA (May 2001). "Amyotrophic lateral sclerosis". The New England Journal of Medicine. 344 (22): 1688-700. ... "Early presymptomatic cholinergic dysfunction in a murine model of amyotrophic lateral sclerosis". Brain and Behavior. 3 (2): ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ... multiple sclerosis (MS), chronic hepatitis and various malignancies."[22] Medications can also cause side effects that mimic ... multiple sclerosis), and others (such as nasal obstruction from allergies, sinusitis, anatomic obstruction, autoimmune diseases ... CFS affects a person's functional status and well-being more than major medical conditions such as multiple sclerosis, ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ... Multiple sclerosis may cause seizures. Electroconvulsive therapy (ECT) deliberately sets out to induce a seizure for the ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ...
Amyotrophic lateral sclerosis. *Primary lateral sclerosis. *Progressive bulbar palsy. *Progressive spinal muscular atrophy ... Multiple sclerosis and other demyelinating diseases of CNS (G35-G37, 340-341) ...
Amyotrophic Lateral Sclerosis. 10: 74-78. doi:10.3109/17482960903272942. PMID 19929737. Stewart I, Seawright AA, Shaw GR (2008 ... cyanobacteria neurotoxin BMAA may be an environmental cause of neurodegenerative diseases such as amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis Creutzfeldt-Jakob disease Frontotemporal Dementia Dementia with Lewy bodies Corticobasal ... Aging is also associated with many neurological and neurodegenerative disease such as amyotrophic lateral sclerosis, dementia, ... "Amyotrophic lateral sclerosis". Lancet. 377 (9769): 942-55. doi:10.1016/s0140-6736(10)61156-7. PMID 21296405. S2CID 14354178. ...
"Preliminary investigation of effect of granulocyte colony stimulating factor on amyotrophic lateral sclerosis". Amyotrophic ... "Granulocyte-colony stimulating factor improves outcome in a mouse model of amyotrophic lateral sclerosis". Brain. 131 (Pt 12): ... phase IIb and several clinical pilot studies are published for other neurological disease such as amyotrophic lateral sclerosis ... Lateral Sclerosis. 10 (5-6): 430-1. doi:10.3109/17482960802588059. PMID 19922135. S2CID 43087598. Acosta SA, Tajiri N, ...
... amyotrophic lateral sclerosis.[52] ...
Finsterer, J (January 2003). "Mitochondriopathy mimicking amyotrophic lateral sclerosis". The Neurologist. 9 (1): 45-8. doi: ...
... amyotrophic lateral sclerosis, and schizophrenia. These diseases have more moderate effects on the olfactory system than ...
Mutations in the first SOD enzyme (SOD1) can cause familial amyotrophic lateral sclerosis (ALS, a form of motor neuron disease ... "Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis". J. Biol. Chem. 283 (23): 16169-77. doi: ... "Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase". Science. 261 (5124): 1047-51. doi:10.1126/ ... "SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis". Neurobiology of Disease. 39 (2): 198-203. doi:10.1016/j.nbd. ...
... amyotrophic lateral sclerosis, and other neurodegenerative diseases. Researchers suggest that these cells possess a unique ...
... amyotrophic lateral sclerosis (ALS),[127] Huntington's disease,[126] Creutzfeldt-Jakob disease,[128] and motor neuron diseases ... "Morphometrical reappraisal of motor neuron system of Pick's disease and amyotrophic lateral sclerosis with dementia". Acta ... The presence of 20S proteasomes in bacteria may result from lateral gene transfer, while the diversification of subunits among ...
Neurology works with diseases of the central and peripheral nervous systems, such as amyotrophic lateral sclerosis (ALS) and ... Illustration from Gray's Anatomy (1918) of a lateral view of the human brain, featuring the hippocampus among other ...
ALS(英语:Template:Amyotrophic lateral sclerosis). *症狀 *頭頸部 ...
Peripherin: Amyotrophic lateral sclerosis. 4. *Neurofilament: Parkinson's disease. *Charcot-Marie-Tooth disease 1F, 2E ...
TMS has shown potential with neurologic conditions such as Alzheimer's disease,[4] amyotrophic lateral sclerosis,[4][35] ... "Repetitive transcranial magnetic stimulation for the treatment of amyotrophic lateral sclerosis or motor neuron disease". The ... multiple sclerosis,[4] schizophrenia,[4][10] and traumatic brain injury.[40] ...
Primary lateral sclerosis. *Pseudobulbar palsy. *Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor ... Minegar, Alireza (2003). "Blood-Brain Barrier Disruption in Multiple Sclerosis". Multiple Sclerosis Journal. Sage Journals. 9 ( ... See also: Multiple sclerosis § Medications, and Management of multiple sclerosis. Treatments are patient-specific and depend on ... Rosati G (April 2001). "The prevalence of multiple sclerosis in the world: an update". Neurol. Sci. 22 (2): 117-39. doi:10.1007 ...
Huntington's disease and amyotrophic lateral sclerosis.[13][14][15][16] Blocking of NMDA receptors could therefore, in theory, ...
It is a useful marker for disease monitoring in amyotrophic lateral sclerosis,[9] multiple sclerosis,[10] familial Alzheimer's ... including multiple sclerosis, neurodegenerative dementia, stroke, traumatic brain injury, amyotrophic lateral sclerosis and ... Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C (November 1996). "Patients with amyotrophic lateral sclerosis ... "Neurofilaments as Biomarkers for Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis". PLOS One. 11 (10): ...
Chronic dietary exposure to BMAA is now considered to be a cause of the amyotrophic lateral sclerosis/parkinsonism-dementia ... 1954). "Epidemiologic investigations of amyotrophic lateral sclerosis". Neurology. 4 (5): 355-78. doi:10.1212/wnl.4.5.355. PMID ... 2013). "Linking β-methylamino-L-alanine exposure to sporadic amyotrophic lateral sclerosis in Annapolis, MD". Toxicon. 70: 179- ... amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy (PSP), and Lewy body disease. In vitro research has shown ...
... and amyotrophic lateral sclerosis,[18][19] these studies have been inconclusive.[20][21][22] ... and amyotrophic lateral sclerosis". Current Drug Targets. CNS and Neurological Disorders. 2 (2): 95-107. doi:10.2174/ ...
Lou Gehrig's disease - see Amyotrophic lateral sclerosis. *Lumbar disc disease. *Lumbar spinal stenosis ...
ALS(英语:Template:Amyotrophic lateral sclerosis). *症狀 *頭頸部 ... 原发性脊髓侧索硬化(英语:Primary lateral sclerosis) ... 弥漫性脱髓鞘硬化(英语:Diffuse myelinoclastic sclerosis) ... 延髓
Amyotrophic Lateral Sclerosis (página oficial). *Anaesthesia. *Anesthesia and Analgesia (página oficial). *Anesthesiology ( ...
October 2007). "Nutritional status and risk of amyotrophic lateral sclerosis in Japan". Amyotrophic Lateral Sclerosis. 8 (5): ... "Intake of polyunsaturated fatty acids and vitamin E reduces the risk of developing amyotrophic lateral sclerosis". Journal of ... of polyunsaturated fatty acids is under preliminary research to assess the risk of developing amyotrophic lateral sclerosis ( ...
He also set up a recovery fund for the benefit of Amyotrophic Lateral Sclerosis Association.[159][160][161] Cumberbatch has ...
... and shark cartilage contains potentially toxic compounds linked to Alzheimer's disease and amyotrophic lateral sclerosis. ...
Introduction: Amyotrophic lateral sclerosis (ALS) and Parkinsons disease (PD) are two severe neurodegenerative disorders for ... Amyotrophic lateral sclerosis (ALS), Parkinsons disease (PD), NMR metabolomics, Biomarker, rebrospinal fluid (CSF), Plasma ... NMR analysis of the CSF and plasma metabolome of rigorously matched amyotrophic lateral sclerosis, Parkinsons disease and ...
Revised criteria for the diagnosis of amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis and Other Motor Neuron ... "Edaravone and its clinical development for amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 18 (sup 1): 5-10. doi ... Amyotrophic Lateral Sclerosis. CRC Press. p. 9. ISBN 978-0824729240. .. *^ Gordon PH (October 2013). "Amyotrophic Lateral ... Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis)". Neurologic ...
Can persons diagnosed with Primary Lateral Sclerosis (PLS) join the National ALS Registry?. Only people diagnosed with ALS can ... Most persons who are first diagnosed with progressive muscular atrophy, progressive bulbar palsy, or primary lateral sclerosis ... Other MNDs include progressive muscular atrophy, progressive bulbar palsy, and primary lateral sclerosis. ...
ALS Meta description needed.
Amyotrophic lateral sclerosis Definition Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the ... AMYOTROPHIC LATERAL SCLEROSIS. DEFINITION. Amyotrophic lateral sclerosis (ALS; pronounced ay-MY-eh-TRO-fik LA-ter-el skler-OH- ... Amyotrophic lateral sclerosis. Definition. Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the ... Amyotrophic Lateral Sclerosis. Definition. Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the ...
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that ... Genetic Testing Registry: Amyotrophic lateral sclerosis type 1 *Genetic Testing Registry: Amyotrophic lateral sclerosis type 10 ... Genetic Testing Registry: Amyotrophic lateral sclerosis type 12 *Genetic Testing Registry: Amyotrophic lateral sclerosis type 2 ... Genetic Testing Registry: Amyotrophic lateral sclerosis *Genetic Testing Registry: Amyotrophic lateral sclerosis 14, with or ...
The Global Amyotrophic Lateral Sclerosis Drugs Market has also been witnessing the increasing awareness of ALS drugs. However, ... The analysts forecast the Global Amyotrophic Lateral Sclerosis Drugs Market to grow at a CAGR of 5.39 percent over the period ... The report, the Global Amyotrophic Lateral Sclerosis Drugs market 2014-2018, has been prepared based on an in-depth market ... The report covers Americas, EMEA and APAC regions; it also covers the Global Amyotrophic Lateral Sclerosis Drugs market ...
Following submission, ATSDR will review the application for completeness and relevance to Registry participants. It will then be evaluated by an external expert panel. ATSDR will not consider any research that does not have IRB approval and an FDA IND or IDE number for an investigational test article, if applicable.. The Registry Web portal provides a tool for researchers to track the status of their applications. ATSDR estimates the approval process could take up to 60 business days from the receipt of a complete application.. If your application for data and/or samples is approved, there will be some additional requirements, e.g., signing a Material Transfer Agreement (MTA) you must complete before you can receive the approved data and/or specimens. You will also be required to submit an annual updates about your project. Annual Update Form.. For questions about how you can work with the Registry, please contact us at 1-877-442-9719 or by email at ...
ALS: Amyotrophic Lateral Sclerosis (ALS), The Muscular Dystrophy Association. *Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, ... ALS (Amyotrophic Lateral Sclerosis) Your team of specialists at the ALS and Neuromuscular Disease Center will give you expert ... ALS (amyotrophic lateral sclerosis) is also known as Lou Gehrigs disease after the New York Yankees player who was diagnosed ...
Many physicians make no effort at treatment for patients suffering from amyotrophic lateral sclerosis (ALS). This is hard to ... Amyotrophic Lateral Sclerosis Methyl Phenidate Amyotrophic Lateral Sclerosis Patient Motor Neuron Disease Calcium Gluconate ... The Treatment of Amyotrophic Lateral Sclerosis. In: Cosi V., Kato A.C., Parlette W., Pinelli P., Poloni M. (eds) Amyotrophic ... F. H. Norris, K. S. U, E. H. Denys, K. C. Archibald, and C. Lebo, Amyotrophic lateral sclerosis (letter), Mayo Clin.Proc., 53: ...
Definitions of amyotrophic lateral sclerosis: *noun: thickening of tissue in the motor tracts of the lateral columns and ... Search for amyotrophic lateral sclerosis at other dictionaries: OneLook, Oxford, American Heritage, Merriam-Webster, Wikipedia ...
ALS stands for Amyotrophic Lateral Sclerosis, also called Lou Gehrigs disease. ALS affects the nervous system, causing muscle ... ALS (Amyotrophic Lateral Sclerosis) (National Institute of Neurological Disorders and Stroke) * Amyotrophic Lateral Sclerosis ( ... Amyotrophic lateral sclerosis (Medical Encyclopedia) Also in Spanish * Swallowing problems (Medical Encyclopedia) Also in ... Amyotrophic Lateral Sclerosis (ALS) (National Institute of Neurological Disorders and Stroke) - Short Summary Also in Spanish ...
... Sonam Parakh,1 Damian M. Spencer,1 Mark A. Halloran,2 Kai Y. Soo,1 and Julie ... Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results from the death of upper and lower motor neurons ...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results from the death of upper and lower motor neurons ... "A systematic review of antioxidant treatment for amyotrophic lateral sclerosis/motor neuron disease," Amyotrophic Lateral ... "Protein disulfide isomerase-immunopositive inclusions in patients with amyotrophic lateral sclerosis," Amyotrophic Lateral ... Redox Regulation in Amyotrophic Lateral Sclerosis. Sonam Parakh. ,1 Damian M. Spencer. ,1 Mark A. Halloran. ,2 Kai Y. Soo. ,1 ...
Amyotrophic lateral sclerosis (ALS):SOD1 mouse helps researchers identify immune component * Amyotrophic Lateral Sclerosis ALS ... Amyotrophic Lateral Sclerosis ALS, Bioinformatics, Computational Biology, Genetics and Genomics, Resource Development and ...
Amyotrophic lateral sclerosis (ALS) is a common late-onset neurodegenerative disorder that affects motor neurons. There is no ... Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science. 1993; 261:1047-1051.CrossRefGoogle ... A controlled trial of Riluzole in amyotrophic lateral sclerosis. N Engl J Med. 1994; 330(9):585-591.CrossRefGoogle Scholar ... Amyotrophic lateral sclerosis Cu Zn-superoxide dismutase Diagno-therapeutics Nanobiotechnology This is a preview of ...
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations ... ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis ... Amyotrophic lateral sclerosis. CD68 immunostaining shows abundant histiocytes in lateral column (ie, corticospinal tract) of ... Amyotrophic lateral sclerosis. Orphanet J Rare Dis. 2009 Feb 3. 4:3. [Medline]. [Full Text]. ...
Researchers have discovered a basic molecular mechanism that sheds light on the disease process underlying amyotrophic lateral ... has discovered a basic molecular mechanism that sheds light on the disease process underlying amyotrophic lateral sclerosis ( ... Tags: AIDS, Brain, Cell, Eye, Light, Metabolism, Nucleus, Paralysis, Pathology, Protein, Research, RNA, Sclerosis, Splicing, ... Multiple sclerosis therapies delay progression of disability. *Hearing challenges still reported by high proportion of older ...
Amyotrophic lateral sclerosis definition, an incurable disease of unknown cause in which progressive degeneration of motor ... amyotrophic lateral sclerosis. in Science. amyotrophic lateral sclerosis. [ā′mī-ə-trō′fĭk, -ə-trŏf′ĭk, ā-mī′-] ... amyotrophic lateral sclerosis. amyotrophic lateral sclerosis. noun. *a form of motor neurone disease in which degeneration of ... amyotrophic lateral sclerosis. in Medicine. amyotrophic lateral sclerosis. [ā-mī′ə-trŏf′ĭk, -trō′fĭk] ...
Amyotrophic lateral sclerosis (ALS), also known as Charcot disease after the physician who first described it, and Lou Gehrigs ... Gene Therapy Strategies for Amyotrophic Lateral Sclerosis. What is Amyotrophic Lateral Sclerosis (ALS)?. Amyotrophic lateral ... Muellers gene therapy strategy on Amyotrophic Lateral Sclerosis (ALS). SOD1-linked ALS program. This is our more advanced ... A leading researcher for Amyotrophic Lateral Sclerosis (ALS). Chris Mueller, PhD, is an Associate Professor of Pediatrics and a ...
Amyotrophic Lateral Sclerosis (ALS) Clinical Research Trial Listings in Musculoskeletal Neurology Pulmonary/Respiratory ... Amyotrophic Lateral Sclerosis (ALS) Clinical Trials. A listing of Amyotrophic Lateral Sclerosis (ALS) medical research trials ... Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Background Non-invasive mechanical ventilation (NIV) has been ...
Amyotrophic Lateral Sclerosis (ALS) Clinical Research Trial Listings in Musculoskeletal Neurology Pulmonary/Respiratory ... Amyotrophic Lateral Sclerosis (ALS) Clinical Trials. A listing of Amyotrophic Lateral Sclerosis (ALS) medical research trials ... Imaging and BioFluid Biomarkers in Amyotrophic Lateral Sclerosis In this trial, approximately 200 subjects will participate in ... Study of Predictive Factors of Progression of Lateral Amyotrophic Sclerosis This is a prospective observational multicentric ...
Revised criteria for the diagnosis of amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis and Other Motor Neuron ... "Edaravone and its clinical development for amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 18 (sup 1): 5-10. doi ... see Amyotrophic lateral sclerosis research#Past clinical trials. Wijesekera LC, Leigh PN (February 2009). "Amyotrophic lateral ... "Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar ...
Continuum of frontal lobe impairment in amyotrophic lateral sclerosis.. Murphy JM1, Henry RG, Langmore S, Kramer JH, Miller BL ... To identify the nature and prevalence of cognitive and behavioral abnormalities in patients with amyotrophic lateral sclerosis ... Amyotrophic Lateral Sclerosis - Genetic Alliance. *Amyotrophic Lateral Sclerosis - MedlinePlus Health Information. ...
A RIPK1-regulated inflammatory microglial state in amyotrophic lateral sclerosis. Lauren Mifflin, Zhirui Hu, Connor Dufort, ... A RIPK1-regulated inflammatory microglial state in amyotrophic lateral sclerosis. Lauren Mifflin, Zhirui Hu, Connor Dufort, ... A RIPK1-regulated inflammatory microglial state in amyotrophic lateral sclerosis. View ORCID ProfileLauren Mifflin, Zhirui Hu, ... A RIPK1-regulated inflammatory microglial state in amyotrophic lateral sclerosis Message Subject (Your Name) has sent you a ...
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.. Kim H1,2, Lim J1, Bao H1, Jiao B1, Canon SM3, Epstein MP1, ... Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and ...
Amyotrophic lateral sclerosis (ALS). Find out more about the symptoms, diagnosis and treatment of ALS, also known as Lou ... Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system (neurological ... Risk factors for amyotrophic lateral sclerosis. Clinical Epidemiology. 2015;7:181.. *Crum BA (expert opinion). Mayo Clinic, ... Practice parameter update: The care of the patient with amyotrophic lateral sclerosis: Multidisciplinary care, symptom ...
Amyotrophic lateral sclerosis (ALS). Find out more about the symptoms, diagnosis and treatment of ALS, also known as Lou ... Some people with amyotrophic lateral sclerosis live much longer than the three to five years usually associated with this ... Amyotrophic lateral sclerosis (ALS) is difficult to diagnose early because it may mimic several other neurological diseases. ... Risk factors for amyotrophic lateral sclerosis. Clinical Epidemiology. 2015;7:181.. *Crum BA (expert opinion). Mayo Clinic, ...
Research on amyotrophic lateral sclerosis has focused on animal models of the disease, its mechanisms, ways to diagnose and ... Kim, Changsung; Lee, Hee Chul; Sung, Jung-Joon (2014-09-01). "Amyotrophic Lateral Sclerosis - Cell Based Therapy and Novel ... Mitsumoto H, Brooks BR, Silani V (November 2014). "Clinical trials in amyotrophic lateral sclerosis: why so many negative ... "Public summary of opinion on orphan designation Masitinib mesilate for treatment of amyotrophic lateral sclerosis" (PDF). EMA. ...
  • 4,5,7 He stated, "The diagnosis as well as the anatomy and physiology of the condition amyotrophic lateral sclerosis is one of the most completely understood conditions in the realm of clinical neurology. (ajmc.com)
  • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. (freemd.com)
  • Prize4Life, a non-profit organization dedicated to accelerating the discovery of a cure for Amyotrophic Lateral Sclerosis (ALS) by offering incentives to drive innovation, today announced that Dr. Seward Rutkove, Chief of the Division of Neuromuscular Disease at Beth Israel Deaconess Medical Center and Associate Professor of Neurology at Harvard Medical School, has received the $1 million dollar Prize4Life award for the discovery of a new ALS biomarker. (highlighthealth.com)
  • Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the nervous system (a neurodegenerative disease) of unknown cause that affects the nerves responsible for movement. (encyclopedia.com)
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results from the death of upper and lower motor neurons. (hindawi.com)
  • Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease. (pnas.org)
  • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with substantial heterogeneity in its clinical presentation. (nature.com)
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting from the loss of upper motor neurons (UMN) and lower motor neurons (LMN). (cap.org)
  • Amyotrophic Lateral Sclerosis (ALS) , is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. (psp.org)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that primarily kills motor neurons, leading to paralysis and death 2 to 5 years from diagnosis. (disabled-world.com)
  • Amyotrophic lateral sclerosis (ALS) is a fatal and progressive neurodegenerative disease, which affects motor neurons in the anterior horn of the spinal cord, the brainstem, and the motor cortex. (frontiersin.org)
  • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor nervous system. (broadinstitute.org)
  • SOD1 was considered a regional candidate gene because mutations in human SOD1 can cause amyotrophic lateral sclerosis (ALS), an adult-onset fatal paralytic neurodegenerative disease with both upper and lower motor neuron involvement. (pnas.org)
  • This paper shows a relationship between mitochondrial haplogroups and, amyotrophic lateral sclerosis, a neurodegenerative disease. (blogspot.com)
  • [19] In 1869, the connection between the symptoms and the underlying neurological problems was first described by Jean-Martin Charcot , who in 1874 began using the term amyotrophic lateral sclerosis . (wikipedia.org)
  • Treatments can't reverse the damage of amyotrophic lateral sclerosis, but they can slow the progression of symptoms, prevent complications and make you more comfortable and independent. (mayoclinic.org)
  • The evaluation of amyotrophic lateral sclerosis begins with a history and physical exam. (freemd.com)
  • Dietary intake and function in amyotrophic lateral sclerosis: Are they associated? (eurekalert.org)
  • Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis? (bmj.com)
  • Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes. (medscape.com)
  • Increased levels of NOS have been observed in the motor neurons of amyotrophic lateral sclerosis (ALS) patients suggesting a role of RNS in pathology [ 7 ]. (hindawi.com)
  • Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. (cap.org)
  • Duke's ALS Center is one of approximately 100 centers in the world dedicated to the diagnosis and treatment of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. (dukehealth.org)
  • Is what you eat associated with better function and respiratory function for patients with amyotrophic lateral sclerosis (ALS) soon after diagnosis? (eurekalert.org)
  • The diagnosis of amyotrophic lateral sclerosis requires testing. (freemd.com)
  • The Section of Amyotrophic Lateral Sclerosis and Related Motor Neuron Disorders in the Neuromuscular Center, headed by Dr. Erik P Pioro since 2000, provides diagnosis and management, as well as various research studies for hundreds of patients annually with ALS and other motor neuron diseases (MNDs) from Ohio and elsewhere. (clevelandclinic.org)
  • A magnetic resonance imaging (MRI) scan of the head or spine may be used to exclude other conditions that can damage or compress nerve cells such as cervical spondylosis, multiple sclerosis, and thyroid diorders. (medbroadcast.com)
  • Glatiramer acetate is indicated for the reduction of the frequency of relapses in relapsing-remitting multiple sclerosis (RRMS). (fiercebiotech.com)
  • Amyotrophic lateral sclerosis ( ALS ), also known as motor neurone disease ( MND ) or Lou Gehrig's disease , is a specific disease that causes the death of neurons controlling voluntary muscles . (wikipedia.org)
  • ALS (amyotrophic lateral sclerosis) is also known as Lou Gehrig's disease after the New York Yankees player who was diagnosed with it in 1939. (ohsu.edu)
  • Product description The present Competitive Intelligence Report about Amyotrophic Lateral Sclerosis (ALS) / Lou Gehrig's disease provides a competitor evaluation about new treatments in the R&D pipeline of amyotrophic lateral sclerosis (ALS) / Lou Gehrig's disease as of March 2009. (slideshare.net)
  • Amyotrophic lateral sclerosis (ALS, also called Lou Gehrig's disease) is a rapidly progressing, motor neuron disease characterized by the gradual degeneration and death of motor neurons. (slideshare.net)
  • Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. (medicinenet.com)
  • An international team of researchers has discovered a basic molecular mechanism that sheds light on the disease process underlying amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. (news-medical.net)
  • Amyotrophic lateral sclerosis (ALS), also known as Charcot disease after the physician who first described it, and Lou Gehrig's disease in the US after a famous baseball player who suffered from ALS, is a neurodegenerative disorder that primarily affects the motor neurons. (umassmed.edu)
  • Amyotrophic Lateral Sclerosis (ALS), or "Lou Gehrig's Disease", is a fatal disorder that causes progressive degeneration and weakening of the muscles of breathing, leading to breathing insufficiency and eventually breathing failure. (centerwatch.com)
  • amyotrophic lateral sclerosis (ALS) (ā´mīətrōf´ik, sklĬrō´sĬs) or motor neuron disease, sometimes called Lou Gehrig's disease, degenerative disease that affects motor neurons in the brain and spinal cord , preventing them from sending impulses to the muscles. (questia.com)
  • Learning you have amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, can be overwhelming. (dukehealth.org)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or motor neuron disease, is a progressive neurological disease that causes the neurons that control voluntary muscles (motor neurons) to degenerate, according to the National Institutes of Health (NIH). (livescience.com)
  • A study led by St. Jude Children's Research Hospital has discovered mutations in two genes that lead to the death of nerve cells in amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, and related degenerative diseases. (redorbit.com)
  • This past May my close friend Brad was diagnosed with ALS (Amyotrophic Lateral Sclerosis), also known as Lou Gehrig's disease. (crowdrise.com)
  • Amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease, is a progressive nervous disorder affecting motor nerves that control the function of voluntary muscles . (medindia.net)
  • Amyotrophic lateral sclerosis (ALS) , commonly known as Lou Gehrig's disease, is a progressive neuromuscular disease. (clevelandclinic.org)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease and motor neuron disease (MND), is a progressive condition caused by the deterioration of the motor neurons in the spinal cord and brain, resulting in paralysis. (ajmc.com)
  • Montréal, November 16, 2017 - Researchers from the University of Montréal Hospital Research Centre (CRCHUM) and the Cumming School of Medicine (CSM) at the University of Calgary have discovered a medication that could make it possible to treat individuals with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. (eurekalert.org)
  • ALS , formally known as amyotrophic lateral sclerosis and informally as Lou Gehrig's disease, occurs in both a less common familial form (i.e. an inherited form, known as ALS1), and perhaps independently, in a sporadic form. (snpedia.com)
  • In order to better understand the causes of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, a group of scientists at the Centre hospitalier de l'Université de Montréal Research Centre (CRCHUM) studied 29 genes involved in the development of motor neurons in 190 ALS patients from Quebec and France. (healthcanal.com)
  • NEW YORK , Sept. 30, 2020 /PRNewswire/ -- The Muscular Dystrophy Association (MDA) announced today the awarding of five new MDA grants totaling over $1.6 million toward research focused on amyotrophic lateral sclerosis (ALS), commonly known as ' Lou Gehrig's disease. (prnewswire.com)
  • Amyotrophic lateral sclerosis (ALS) - commonly known as Lou Gehrig's disease - is a motor neuron disease. (medbroadcast.com)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive wasting away of the nerve cells in the brain and spinal column that control the muscles that allow movement. (conehealth.com)
  • Examine biological similarities between ALS and motor neuron disease in other neurodegenerative disorders, including frontotemporal dementia, chronic traumatic encephalopathy, Kennedy's disease, spinal muscular atrophy, and primary lateral sclerosis. (nih.gov)
  • Other disorders which fall under the category of motor neuron disease include primary lateral sclerosis, spinal muscular atrophy, and progressive bulbar palsy. (yale.edu)
  • Abstract Our objectives were to assess the frequency of behavioural changes in patients with amyotrophic lateral sclerosis (ALS) and to compare the clinical profile of ALS patients with those with behavioural variant frontotemporal dementia (bvFTD). (biomedsearch.com)
  • Amyotrophic Lateral Sclerosis - Anyone know how fast bulbar onset ALS takes? (drugs.com)
  • This study will examine the effectiveness of Cistanche Total Glycosides(CTG) in treating patients with amyotrophic lateral sclerosis (ALS) - a fatal neurological degenerative disease that causes adult-onset, progressive motor neurons loss in the spinal cord, brain stem and motor cortex. (centerwatch.com)
  • 13 Patients with an older age at symptom onset, bulbar-onset ALS, lower Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS or ALSFRS-R) score, and early dysfunction of the respiratory muscles have a lower survival risk. (ajmc.com)
  • Amyotrophic Lateral Sclerosis (ALS), the most common MND, is a fatal adult-onset neuromuscular disease. (clinicaltrials.gov)
  • Researchers in Rensselaer Polytechnic Institute's Social and Behavioral Research Lab (SBRL) are leading a study to investigate potential environmental, lifestyle, and medical variables that may contribute to the onset of Amyotrophic Lateral Sclerosis (ALS). (news-medical.net)
  • An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (jax.org)
  • Amyotrophic lateral sclerosis ( ALS ) is the most common type of adult-onset motor neuron disease (MND). (medscape.com)
  • Many physicians make no effort at treatment for patients suffering from amyotrophic lateral sclerosis (ALS). (springer.com)
  • K. S. U, F. H. Norris, E. H. Denys, and C. P. Lebo, Surgery in patients with amyotrophic lateral sclerosis. (springer.com)
  • Isis Pharmaceuticals, Inc. ISIS announced that its partner Biogen Inc. BIIB has started a phase I/II study on ISIS-SOD1Rx (previously known as ISIS-BIIB3Rx) in patients suffering from amyotrophic lateral sclerosis (ALS). (nasdaq.com)
  • In Amyotrophic Lateral Sclerosis (ALS), malnutrition is frequent (16 to 50 % of the patients) and is an independent prognostic factor. (centerwatch.com)
  • To identify the nature and prevalence of cognitive and behavioral abnormalities in patients with amyotrophic lateral sclerosis (ALS). (nih.gov)
  • Data from patients with amyotrophic lateral sclerosis, who reported starting treatments within the last 5 years. (patientslikeme.com)
  • The purpose of this trial is to test the safety, tolerability, and effectiveness of minocycline compared to placebo in patients with amyotrophic lateral sclerosis (ALS). (clinicaltrials.gov)
  • Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial. (clinicaltrials.gov)
  • The approval of edaravone for the treatment of amyotrophic lateral sclerosis by the FDA brings hope to several patients. (medindia.net)
  • A tertiary referral centre clinical database was analysed, consisting of 1471 patients with amyotrophic lateral sclerosis seen between 1993 and 2007. (nih.gov)
  • The Amyotrophic Lateral Sclerosis (ALS) Multidisciplinary Clinic at Massachusetts General Hospital provides high-quality care along with access to the latest treatments and research opportunities for patients with ALS. (massgeneral.org)
  • Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral Sclerosis. (healthcanal.com)
  • The primary objectives of this study are to determine the safety and efficacy of Amivita, a compound of amino acids and vitamines in patients with Amyotrophic lateral sclerosis (ALS)ALS. (clinicaltrials.gov)
  • This study aimed to evaluate muscle oxidative function during exercise in amyotrophic lateral sclerosis patients (pALS) with non-invasive methods in order to assess if determinants of reduced exercise tolerance might match ALS clinical heterogeneity. (nature.com)
  • Pattern of lung function decline in patients with amyotrophic lateral sclerosis: implications for timing of noninvasive ventilation. (clevelandclinic.org)
  • The study was designed to assess the safety, tolerability and efficacy of glatiramer acetate (GA) 40 mg, given once daily as a subcutaneous injection, in reducing disease-related functional deterioration in Amyotrophic Lateral Sclerosis (ALS) patients. (fiercebiotech.com)
  • Materials and Methods We carried out a retrospective multivariate analysis of 713 patients with ALS over a 20 year period from the South-East England Amyotrophic Lateral Sclerosis (SEALS) population register. (bmj.com)
  • By isolating cells from patients' spinal tissue within a few days after death, researchers funded by the National Institutes of Health have developed a new model of the paralyzing disease amyotrophic lateral sclerosis (ALS) . (highlighthealth.com)
  • A severe physical disability has a dramatic impact on a person's life, whether it is caused by a neuro-degenerative disease such as amyotrophic lateral sclerosis (ALS), a brainstem stroke, or a spinal cord injury. (centerwatch.com)
  • ALS (amyotrophic lateral sclerosis) is a degenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brainstem and spinal cord. (patientslikeme.com)
  • Find out more about the degenerative disease- Amyotrophic lateral sclerosis. (medindia.net)
  • Amyotrophic lateral sclerosis is a rare degenerative disorder that results in progressive wasting and paralysis of voluntary muscles. (cnbc.com)
  • Amyotrophic lateral sclerosis (ALS) is the most frequently occurring of the neuromuscular degenerative disorders, with a median survival time of 3-5 years. (nih.gov)
  • Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. (medicinenet.com)
  • Amyotrophic lateral sclerosis (ALS) is a rare group of neurological diseases that mainly involve the nerve cells (neurons) responsible for controlling voluntary muscle movement. (medicinenet.com)
  • Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and respiratory failure. (nih.gov)
  • Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system (neurological) disease that destroys nerve cells and causes disability. (mayoclinic.org)
  • Amyotrophic lateral sclerosis (ALS) is difficult to diagnose early because it may mimic several other neurological diseases. (mayoclinic.org)
  • A Meta-Analysis of Observational Studies of the Association Between Chronic Occupational Exposure to Lead and Amyotrophic Lateral Sclerosis " stems from the Canadian government's $15 million effort to better understand neurological health conditions. (scienceblogs.com)
  • Amyotrophic lateral sclerosis (ALS) is a neurological disorder which can reduce the life span of the affected individual. (medindia.net)
  • Amyotrophic lateral sclerosis (ALS) is a terminal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain. (massgeneral.org)
  • THURSDAY, Feb. 28, 2019 - Professional soccer players may be vulnerable to amyotrophic lateral sclerosis (ALS), a new study suggests. (drugs.com)
  • The purpose of this guidance is to assist sponsors in the clinical development of drugs for the treatment of amyotrophic lateral sclerosis (ALS). (fda.gov)
  • Staging criteria for amyotrophic lateral sclerosis would help to provide a universal and objective measure of disease progression with benefits for patient care, resource allocation, research classifications and clinical trial design. (nih.gov)
  • The DSMB was created as part of the Company's pivotal clinical study evaluating masitinib in the treatment of amyotrophic lateral sclerosis. (cnbc.com)
  • Waragai M: MRI and clinical features in amyotrophic lateral sclerosis. (freemd.com)
  • Objectives To generate a prognostic classification method for Amyotrophic Lateral Sclerosis (ALS) from a prognostic model built using clinical variables from a population register. (bmj.com)
  • [2] Motor neuron diseases include amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), progressive bulbar palsy , pseudobulbar palsy , and monomelic amyotrophy (MMA). (wikipedia.org)
  • Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases that are related genetically and pathologically. (mendeley.com)
  • Introduction: Amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are two severe neurodegenerative disorders for which the disease mechanisms are poorly understood and reliable biomarkers are absent. (diva-portal.org)
  • Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. (medlineplus.gov)
  • What is amyotrophic lateral sclerosis (ALS) (Lou Gehrig disease)? (medscape.com)
  • A disease of the motor tracts of the lateral columns and anterior horns of the spinal cord, causing progressive muscular atrophy, increased reflexes, fibrillary twitching, and spastic irritability of muscles. (dictionary.com)
  • Research on amyotrophic lateral sclerosis has focused on animal models of the disease, its mechanisms, ways to diagnose and track it, and treatments. (wikipedia.org)
  • Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. (diva-portal.org)
  • Amyotrophic lateral sclerosis (ALS) is a disease that results in the progressive deterioration and loss of function of the motor neurons in the brain and spinal cord, leading to paralysis. (ajmc.com)
  • 6 In 1874, Charcot named this disease, "amyotrophic lateral sclerosis," which is still known today as Charcot disease in many parts of the world. (ajmc.com)
  • Amyotrophic lateral sclerosis, or ALS, is a disease in which certain nerve cells in the brain and spinal cord slowly die. (adventisthealthcare.com)
  • Brandeis researchers have made a significant advance in the effort to understand amyotrophic lateral sclerosis (ALS) by successfully reversing the toxicity of the mutated protein in the familial type of the disease. (innovations-report.com)
  • A unique industry-academia partnership will increase the rate at which promising drug compounds can be tested as potential treatments for amyotrophic lateral sclerosis (ALS), a disease with no known cure that affects 200,000 people worldwide. (mcgill.ca)
  • Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve cells in the brain, brain stem and spinal cord that control voluntary muscle movement. (mountsinai.org)
  • This higher incidence does not appear to be due to familial ALS or en environmental factor, such as an infective agent, but is thought to be due to higher susceptibility to the disease by the islands native population. (yale.edu)
  • [17] Primary lateral sclerosis (PLS) involves only upper motor neurons, and progressive muscular atrophy (PMA) involves only lower motor neurons. (wikipedia.org)
  • Other MNDs include progressive muscular atrophy, progressive bulbar palsy, and primary lateral sclerosis. (cdc.gov)
  • Primary lateral sclerosis (PLS) involves only upper motor neurons, and progressive muscular atrophy (PMA) involves only lower motor neurons. (wikipedia.org)
  • Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. (cap.org)
  • Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). (blogspot.com)
  • The report includes a compilation of current active projects in research and development of small molecules, antibodies, proteins, peptides, vaccines and other biologics including cells for treatment of amyotrophic lateral sclerosis (ALS). (slideshare.net)
  • NEW YORK (GenomeWeb) - Researchers have uncovered a protein that may serve as a marker for amyotrophic lateral sclerosis and could be used to ascertain whether certain treatment approaches are working. (genomeweb.com)
  • PARIS, March 20, 2015 (GLOBE NEWSWIRE) -- AB Science SA (NYSE Euronext - FR0010557264 - AB), a pharmaceutical company specialized in research, development and marketing of protein kinase inhibitors (PKIs), announces that the U.S. Food and Drug Administration (FDA) has granted the company Orphan Drug designation for masitinib in the treatment of amyotrophic lateral sclerosis. (cnbc.com)
  • The successful application submitted by AB Science and the FDA granting of Orphan Drug status entitles the company to a seven-year period of marketing exclusivity in the United States for masitinib, if it is approved by the FDA for the treatment of amyotrophic lateral sclerosis. (cnbc.com)
  • Lateral" indicates one of the regions of the spinal cord affected, and "sclerosis" describes the hardened tissue that develops in place of healthy nerves. (encyclopedia.com)
  • 3 "Lateral" denotes the areas where the nerves that signal muscles are located in the spinal cord. (ajmc.com)
  • The genetics and neuropathology of amyotrophic lateral sclerosis. (cap.org)
  • Here is some additional information about the 'genetics' of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Amyotrophic_Lateral_Sclerosis/35. (blogspot.com)
  • Provisional best practices guidelines for the evaluation of bulbar dysfunction in amyotrophic lateral sclerosis. (clevelandclinic.org)
  • Stage-specific riluzole effect in amyotrophic lateral sclerosis: a retrospective study. (clevelandclinic.org)
  • How common are behavioural changes in amyotrophic lateral sclerosis? (biomedsearch.com)
  • Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (blogspot.com)
  • Our knowledge of the genetic contribution to Amyotrophic Lateral Sclerosis (ALS) is rapidly growing, and there is increasing research into how ALS spreads through the motor system and beyond. (bl.uk)
  • Secondary degeneration of white matter tracts is common and prominent in the lateral and ventral funiculi of the spinal cord containing the lateral and anterior corticospinal tracts, respectively. (cap.org)
  • Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. (nih.gov)
  • Phukan J, Pender NP, Hardiman O. Cognitive impairment in amyotrophic lateral sclerosis. (cap.org)
  • Variation in noninvasive ventilation use in amyotrophic lateral sclerosis. (clevelandclinic.org)
  • The aim of this study is to determine whether serum uric acid levels predict survival in amyotrophic lateral sclerosis (ALS). (biomedsearch.com)
  • FDA recognizes the critical unmet medical need for new, effective treatments for amyotrophic lateral sclerosis (ALS). (fda.gov)