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)

ALS is caused by a breakdown of the nerve cells responsible for controlling voluntary muscle movement, leading to muscle atrophy and loss of motor function. The disease can affect anyone, regardless of age or gender, but it is most common in people between the ages of 55 and 75.

The symptoms of ALS can vary from person to person, but they typically include:

* Muscle weakness or twitching
* Muscle wasting or atrophy
* Loss of motor function, such as difficulty walking, speaking, or swallowing
* Slurred speech or difficulty with language processing
* Weakness or paralysis of the limbs
* Difficulty with balance and coordination
* Fatigue and weakness
* Cognitive changes, such as memory loss and decision-making difficulties

There is currently no cure for ALS, but there are several treatments available to help manage the symptoms and slow the progression of the disease. These include:

* Riluzole, a medication that reduces the amount of glutamate in the brain, which can slow down the progression of ALS
* Physical therapy, to maintain muscle strength and function as long as possible
* Occupational therapy, to help with daily activities and assistive devices
* Speech therapy, to improve communication and swallowing difficulties
* Respiratory therapy, to manage breathing problems
* Nutritional support, to ensure adequate nutrition and hydration

The progression of ALS can vary greatly from person to person, but on average, people with the disease live for 2-5 years after diagnosis. However, some people may live for up to 10 years or more with the disease. The disease is usually diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).

There is ongoing research into the causes of ALS and potential treatments for the disease. Some promising areas of research include:

* Gene therapy, to repair or replace the faulty genes that cause ALS
* Stem cell therapy, to promote the growth of healthy cells in the body
* Electrical stimulation, to improve muscle function and strength
* New medications, such as antioxidants and anti-inflammatory drugs, to slow down the progression of ALS

Overall, while there is currently no cure for ALS, there are several treatments available to help manage the symptoms and slow the progression of the disease. Ongoing research offers hope for new and more effective treatments in the future.

MND is often fatal, usually within 2-5 years of diagnosis. There is currently no cure for MND, although various treatments and therapies can help manage the symptoms and slow its progression.

The most common types of MND are amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). ALS is characterized by rapid degeneration of motor neurons in the brain and spinal cord, leading to muscle weakness and paralysis. PLS is a slower-progressing form of MND that affects only the lower motor neurons.

MND can be caused by a variety of factors, including genetics, age, and exposure to toxins. It is often diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).

There is ongoing research into the causes and potential treatments for MND, including stem cell therapy, gene therapy, and drugs that target specific molecules involved in the disease process.

The symptoms of MS can vary widely depending on the location and severity of the damage to the CNS. Common symptoms include:

* Weakness, numbness, or tingling in the limbs
* Fatigue
* Vision problems, such as blurred vision, double vision, or loss of vision
* Difficulty with balance and coordination
* Tremors or spasticity
* Memory and concentration problems
* Mood changes, such as depression or mood swings
* Bladder and bowel problems

There is no cure for MS, but various treatments can help manage the symptoms and slow the progression of the disease. These treatments include:

* Disease-modifying therapies (DMTs) - These medications are designed to reduce the frequency and severity of relapses, and they can also slow the progression of disability. Examples of DMTs include interferons, glatiramer acetate, natalizumab, fingolimod, dimethyl fumarate, teriflunomide, and alemtuzumab.
* Steroids - Corticosteroids can help reduce inflammation during relapses, but they are not a long-term solution.
* Pain management medications - Pain relievers, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs), can help manage pain caused by MS.
* Muscle relaxants - These medications can help reduce spasticity and tremors.
* Physical therapy - Physical therapy can help improve mobility, balance, and strength.
* Occupational therapy - Occupational therapy can help with daily activities and assistive devices.
* Speech therapy - Speech therapy can help improve communication and swallowing difficulties.
* Psychological counseling - Counseling can help manage the emotional and psychological aspects of MS.

It's important to note that each person with MS is unique, and the best treatment plan will depend on the individual's specific symptoms, needs, and preferences. It's essential to work closely with a healthcare provider to find the most effective treatment plan.

There are several subtypes of FTD, each with distinct clinical features and rates of progression. The most common subtypes include:

1. Behavioral variant FTD (bvFTD): This subtype is characterized by changes in personality, behavior, and social conduct, such as a lack of empathy, impulsivity, and aggression.
2. Language variant FTD (lvFTD): This subtype is characterized by progressive language decline, including difficulty with word-finding, syntax, and comprehension.
3. Primary progressive agrammatic alexia (PPA): This subtype is characterized by progressive loss of language abilities, including grammar and word retrieval.
4. Progressive supranuclear palsy (PSP): This subtype is characterized by slow movement, rigidity, and dementia, with a higher risk of developing parkinsonism.

The exact cause of FTD is not yet fully understood, but it is believed to be linked to abnormal protein accumulation in the brain, including tau and TDP-43 proteins. There is currently no cure for FTD, but various medications and therapies can help manage its symptoms and slow its progression.

FTD can be challenging to diagnose, as it can resemble other conditions such as Alzheimer's disease or frontal lobe lesions. A definitive diagnosis is typically made through a combination of clinical evaluation, neuroimaging, and pathological analysis of brain tissue after death.

FTD has a significant impact on patients and their families, affecting not only cognitive function but also behavior, mood, and social relationships. It can also place a significant burden on caregivers, who may need to provide around-the-clock support and assistance.

Overall, FTD is a complex and heterogeneous disorder that requires further research to better understand its causes, improve diagnostic accuracy, and develop effective treatments.

There are several subtypes of FTLD, including:

1. Behavioral variant FTLD (bvFTD): This is the most common subtype, accounting for about 70% of all cases. It is characterized by changes in personality, behavior, and language, as well as a decline in executive functions such as planning and decision-making.
2. Linguistic variant FTLD (lvFTD): This subtype is characterized by progressive difficulty with language, including agrammatism (difficulty producing grammatically correct sentences), anomia (word-finding difficulties), and semantic decline.
3. Progressive supranuclear palsy (PSP): This subtype is characterized by progressive damage to the brainstem and cerebellum, leading to difficulty with movement, balance, and eye movements.
4. Pick's disease: This is a rare subtype of FTLD that is characterized by atrophy of the frontal and temporal lobes, leading to memory loss, confusion, and changes in personality.

FTLD is caused by the degeneration of neurons in the frontal and temporal lobes, which can be due to various factors such as genetics, environmental factors, or a combination of both. The exact cause of FTLD is not yet fully understood, but research suggests that it may be related to the accumulation of abnormal protein aggregates in the brain.

There is currently no cure for FTLD, and treatment is primarily focused on managing symptoms and improving quality of life. Medications such as cholinesterase inhibitors and memantine may be used to manage cognitive and behavioral symptoms, while speech and language therapy may be helpful for individuals with linguistic variant FTLD.

FTLD is a relatively rare disorder, and the prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. FTLD can affect anyone, regardless of age or gender, but it is more common in older adults.

The prognosis for FTLD is generally poor, with a median survival time of approximately 3-5 years after onset of symptoms. However, the course of the disease can vary widely, and some individuals may survive for many years with relatively mild symptoms, while others may experience rapid decline and death within a few years.

FTLD is often misdiagnosed or underdiagnosed, as it can resemble other conditions such as Alzheimer's disease or frontotemporal dementia. A definitive diagnosis of FTLD requires an autopsy after death, but there are several clinical and imaging markers that can help support a diagnosis during life. These include:

1. Clinical features: FTLD is characterized by a distinct set of cognitive and behavioral symptoms, including changes in personality, language, and social behavior.
2. Imaging markers: FTLD is associated with atrophy of the frontal and temporal lobes, which can be visualized on MRI scans.
3. Genetic testing: Many cases of FTLD are caused by mutations in genes that are involved in the formation and maintenance of synapses, such as the progranulin gene.
4. Electrophysiological markers: FTLD can be associated with abnormalities in brain activity, such as changes in electroencephalography (EEG) or magnetoencephalography (MEG).

There is currently no cure for FTLD, but there are several medications and therapies that can help manage its symptoms and slow its progression. These include:

1. Cholinesterase inhibitors: These drugs, such as donepezil and rivastigmine, can improve cognitive function and slow decline in some individuals with FTLD.
2. Memantine: This medication can help manage neuropsychiatric symptoms, such as agitation and aggression, and may also have a small beneficial effect on cognition.
3. Physical therapy and occupational therapy: These interventions can help individuals with FTLD maintain their physical abilities and perform daily activities.
4. Speech therapy: This can help improve communication and address swallowing difficulties.
5. Psychotherapy: Cognitive-behavioral therapy (CBT) and other forms of psychotherapy can help individuals with FTLD cope with the emotional and behavioral changes associated with the disease.

It is important to note that these treatments may not be effective for all individuals with FTLD, and their effectiveness can vary depending on the specific type of FTLD and the individual's overall health. Research into new and more effective treatments for FTLD is ongoing.

There are many different types of nerve degeneration that can occur in various parts of the body, including:

1. Alzheimer's disease: A progressive neurological disorder that affects memory and cognitive function, leading to degeneration of brain cells.
2. Parkinson's disease: A neurodegenerative disorder that affects movement and balance, caused by the loss of dopamine-producing neurons in the brain.
3. Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death.
4. Multiple sclerosis: An autoimmune disease that affects the central nervous system, causing inflammation and damage to nerve fibers.
5. Diabetic neuropathy: A complication of diabetes that can cause damage to nerves in the hands and feet, leading to pain, numbness, and weakness.
6. Guillain-Barré syndrome: An autoimmune disorder that can cause inflammation and damage to nerve fibers, leading to muscle weakness and paralysis.
7. Chronic inflammatory demyelinating polyneuropathy (CIDP): An autoimmune disorder that can cause inflammation and damage to nerve fibers, leading to muscle weakness and numbness.

The causes of nerve degeneration are not always known or fully understood, but some possible causes include:

1. Genetics: Some types of nerve degeneration may be inherited from one's parents.
2. Aging: As we age, our nerve cells can become damaged or degenerate, leading to a decline in cognitive and physical function.
3. Injury or trauma: Physical injury or trauma to the nervous system can cause nerve damage and degeneration.
4. Infections: Certain infections, such as viral or bacterial infections, can cause nerve damage and degeneration.
5. Autoimmune disorders: Conditions such as Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP) are caused by the immune system attacking and damaging nerve cells.
6. Toxins: Exposure to certain toxins, such as heavy metals or pesticides, can damage and degenerate nerve cells.
7. Poor nutrition: A diet that is deficient in essential nutrients, such as vitamin B12 or other B vitamins, can lead to nerve damage and degeneration.
8. Alcoholism: Long-term alcohol abuse can cause nerve damage and degeneration due to the toxic effects of alcohol on nerve cells.
9. Drug use: Certain drugs, such as chemotherapy drugs and antiviral medications, can damage and degenerate nerve cells.
10. Aging: As we age, our nerve cells can deteriorate and become less functional, leading to a range of cognitive and motor symptoms.

It's important to note that in some cases, nerve damage and degeneration may be irreversible, but there are often strategies that can help manage symptoms and improve quality of life. If you suspect you have nerve damage or degeneration, it's important to seek medical attention as soon as possible to receive an accurate diagnosis and appropriate treatment.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

Some common examples of neurodegenerative diseases include:

1. Alzheimer's disease: A progressive loss of cognitive function, memory, and thinking skills that is the most common form of dementia.
2. Parkinson's disease: A disorder that affects movement, balance, and coordination, causing tremors, rigidity, and difficulty with walking.
3. Huntington's disease: An inherited condition that causes progressive loss of cognitive, motor, and psychiatric functions.
4. Amyotrophic lateral sclerosis (ALS): A disease that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness, paralysis, and eventually death.
5. Prion diseases: A group of rare and fatal disorders caused by misfolded proteins in the brain, leading to neurodegeneration and death.
6. Creutzfeldt-Jakob disease: A rare, degenerative, and fatal brain disorder caused by an abnormal form of a protein called a prion.
7. Frontotemporal dementia: A group of diseases that affect the front and temporal lobes of the brain, leading to changes in personality, behavior, and language.

Neurodegenerative diseases can be caused by a variety of factors, including genetics, age, lifestyle, and environmental factors. They are typically diagnosed through a combination of medical history, physical examination, laboratory tests, and imaging studies. Treatment options for neurodegenerative diseases vary depending on the specific condition and its underlying causes, but may include medications, therapy, and lifestyle changes.

Preventing or slowing the progression of neurodegenerative diseases is a major focus of current research, with various potential therapeutic strategies being explored, such as:

1. Stem cell therapies: Using stem cells to replace damaged neurons and restore brain function.
2. Gene therapies: Replacing or editing genes that are linked to neurodegenerative diseases.
3. Small molecule therapies: Developing small molecules that can slow or prevent the progression of neurodegenerative diseases.
4. Immunotherapies: Harnessing the immune system to combat neurodegenerative diseases.
5. Lifestyle interventions: Promoting healthy lifestyle choices, such as regular exercise and a balanced diet, to reduce the risk of developing neurodegenerative diseases.

In conclusion, neurodegenerative diseases are a complex and diverse group of disorders that can have a profound impact on individuals and society. While there is currently no cure for these conditions, research is providing new insights into their causes and potential treatments. By continuing to invest in research and developing innovative therapeutic strategies, we can work towards improving the lives of those affected by neurodegenerative diseases and ultimately finding a cure.

Fasciculations can be caused by a variety of factors, including:

1. Neuronal hyperexcitability: This is the most common cause of fasciculations. It occurs when there is an imbalance in the activity of neurons in the motor unit, leading to increased excitability and muscle twitching.
2. Muscle damage: Fasciculations can occur as a result of muscle injury or strain.
3. Nutritional deficiencies: Deficiencies in vitamins such as B12 and vitamin D can cause fasciculations.
4. Medication side effects: Certain medications, such as anesthetics and anticonvulsants, can cause muscle twitching as a side effect.
5. Medical conditions: Fasciculations can be a symptom of various medical conditions, including ALS, multiple sclerosis, and peripheral neuropathy.

Fasciculations can affect any part of the body, but are most commonly seen in the eyelids, face, arms, and legs. They can be benign and temporary, or they can be a symptom of an underlying medical condition that requires treatment. If you are experiencing muscle twitching or fasciculations, it is important to speak with a healthcare professional to determine the cause and appropriate course of action.

In summary, fasciculation is a term used in neurology to describe small, localized muscle twitches that can occur in any part of the body. It can be caused by a variety of factors, including neuronal hyperexcitability, muscle damage, nutritional deficiencies, medication side effects, and medical conditions such as ALS. If you are experiencing muscle twitching or fasciculations, it is important to speak with a healthcare professional to determine the cause and appropriate course of action.

TDP-43 is a protein that plays a critical role in regulating gene expression and protecting against oxidative stress. In people with TDP-43 proteinopathies, the normal functioning of this protein is disrupted, leading to the accumulation of abnormal TDP-43 aggregates in the brain. These aggregates are thought to be toxic to brain cells and contribute to the progression of the disease.

There are several different types of TDP-43 proteinopathies, including:

1. Frontotemporal dementia (FTD): This is a group of neurodegenerative disorders that affects the front and temporal lobes of the brain, leading to changes in personality, behavior, and cognitive function.
2. Amyotrophic lateral sclerosis (ALS): This is a progressive neurological disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and death.
3. Progressive supranuclear palsy (PSP): This is a rare brain disorder that affects movement, balance, and eye movements, as well as cognitive function.
4. Corticobasal degeneration (CBD): This is a rare brain disorder that affects the cortex and basal ganglia, leading to a range of symptoms including movement problems, cognitive decline, and behavioral changes.

TDP-43 proteinopathies are typically diagnosed through a combination of clinical evaluation, imaging studies (such as MRI or CT scans), and laboratory tests (such as electrophysiology studies or genetic testing). There is currently no cure for these diseases, but researchers are actively working to develop new treatments to slow or stop their progression.

Some common types of sclerosis include:

1. Multiple sclerosis (MS): This is an autoimmune disease that affects the central nervous system (CNS), causing inflammation and damage to the protective covering of nerve fibers, leading to communication problems between the brain and the rest of the body.
2. Systemic sclerosis (SSc): Also known as scleroderma, this is a chronic autoimmune disease that affects the skin and internal organs, causing hardening and tightening of the skin and scar tissue formation in the affected areas.
3. Progressive supranuclear palsy (PSP): This is a rare brain disorder that affects movement, balance, and eye movements, caused by degeneration of certain cells in the brainstem.
4. Primary lateral sclerosis (PLS): This is a rare neurodegenerative disorder that affects the motor neurons in the spinal cord, leading to weakness in the muscles of the legs, feet, and hands.
5. Tuberous sclerosis complex (TSC): This is a rare genetic disorder that causes non-cancerous tumors to grow in organs such as the brain, heart, kidneys, and lungs.

Symptoms of sclerosis vary depending on the type and location of the condition. Common symptoms include muscle weakness or stiffness, difficulty with movement and coordination, numbness or tingling sensations, and changes in sensation or perception. Treatment options for sclerosis depend on the specific type and severity of the condition, and may include medications, physical therapy, and lifestyle modifications.

Bulbar palsy, progressive refers to a condition where there is a gradual loss of muscle function in the face, tongue, and throat due to damage to the brainstem. This condition is also known as progressive bulbar palsy (PBP).

The brainstem is responsible for controlling many of the body's automatic functions, including breathing, heart rate, and swallowing. When the brainstem is damaged, it can lead to a range of symptoms, including weakness or paralysis of the muscles in the face, tongue, and throat.

The symptoms of progressive bulbar palsy may include:

* Difficulty speaking or slurred speech
* Weakness or paralysis of the facial muscles
* Difficulty swallowing (dysphagia)
* Weight loss due to difficulty eating and drinking
* Fatigue and weakness
* Decreased reflexes

Progressive bulbar palsy can be caused by a variety of conditions, including:

* Brainstem stroke or bleeding
* Brain tumors
* Multiple sclerosis
* Amyotrophic lateral sclerosis (ALS)
* Other neurodegenerative disorders

There is no cure for progressive bulbar palsy, but treatment may include:

* Speech therapy to improve communication skills
* Swallowing therapy to reduce the risk of choking or pneumonia
* Physical therapy to maintain muscle strength and function
* Medications to manage symptoms such as pain, weakness, or fatigue

The prognosis for progressive bulbar palsy is generally poor, with many individuals experiencing significant decline in their quality of life and eventually succumbing to the disease. However, the rate of progression can vary greatly depending on the underlying cause of the condition.

Disease progression can be classified into several types based on the pattern of worsening:

1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.

Disease progression can be influenced by various factors, including:

1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.

Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.

The symptoms of tuberous sclerosis can vary widely depending on the location and size of the affected organs. Some common symptoms include:

* Seizures
* Developmental delays
* Intellectual disability
* Vision problems
* Skin abnormalities, such as patches of thickened skin or pits in the skin
* Cardiac problems, such as arrhythmias or heart failure
* Kidney problems, such as kidney cysts or kidney failure
* Respiratory problems, such as shortness of breath or difficulty breathing

Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. These genes play a critical role in regulating cell growth and division, and mutations in these genes can lead to uncontrolled cell growth and the development of hamartomas.

There is no cure for tuberous sclerosis, but various treatments can help manage the symptoms and prevent complications. These may include:

* Medications to control seizures, such as anticonvulsants
* Surgery to remove hamartomas in the brain or other organs
* Radiation therapy to shrink tumors
* Chemotherapy to kill cancer cells
* Diet and nutrition counseling to manage feeding tubes and malnutrition

The prognosis for individuals with tuberous sclerosis varies depending on the severity of the disease and the presence of complications. Some individuals may have a mild form of the disease with few symptoms, while others may experience severe symptoms and have a shorter life expectancy. With appropriate medical care and management, however, many individuals with tuberous sclerosis can lead active and fulfilling lives.

Pseudobulbar palsy is typically caused by damage to the brain or spinal cord, such as a stroke, traumatic injury, or neurodegenerative disease. The condition can also be a complication of certain medical procedures or surgeries.

Symptoms of pseudobulbar palsy can vary in severity and may include:

* Weakness or paralysis of the muscles used for speech, swallowing, and breathing
* Slurred or distorted speech
* Difficulty articulating words or forming coherent sentences
* Difficulty with swallowing, leading to coughing or choking during eating or drinking
* Fatigue or weakness in the face, arms, or legs
* Loss of reflexes in the face, arms, or legs

Pseudobulbar palsy can be diagnosed through a combination of physical examination, medical history, and diagnostic tests such as electromyography (EMG) or imaging studies. Treatment options for pseudobulbar palsy depend on the underlying cause of the condition and may include physical therapy, speech therapy, medications to manage symptoms, or surgery.

The prognosis for pseudobulbar palsy varies depending on the underlying cause of the condition and the severity of the symptoms. In some cases, pseudobulbar palsy may be a temporary condition that resolves with treatment, while in other cases it may be a chronic condition that requires ongoing management.

Symptoms of sialorrhea may include:

* Excessive drooling or spitting up saliva
* Difficulty swallowing
* Frequent dry mouth
* Bad breath
* Gum disease or tooth decay
* Difficulty speaking or eating

There are several medical conditions that can cause sialorrhea, including:

* Diabetes
* Hypothyroidism (underactive thyroid)
* Hyperthyroidism (overactive thyroid)
* Parkinson's disease
* Alzheimer's disease
* Stroke
* Brain injury
* Multiple sclerosis
* Cerebral palsy

Treatment for sialorrhea depends on the underlying cause and may include:

* Medications to reduce saliva production or dry mouth
* Changes to diet and hydration habits
* Speech therapy to improve swallowing and communication skills
* Treatment of underlying medical conditions
* Sialostomy, a surgical procedure to drain excess saliva from the mouth.

It is important to seek medical attention if you experience persistent or severe sialorrhea, as it can lead to complications such as dehydration, malnutrition, and infection. A healthcare professional can diagnose the underlying cause and recommend appropriate treatment.

1. Muscular dystrophy: A group of genetic disorders that cause progressive muscle weakness and degeneration.
2. Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death.
3. Spinal muscular atrophy: A genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement.
4. Peripheral neuropathy: A condition that causes damage to the peripheral nerves, leading to weakness, numbness, and pain in the hands and feet.
5. Myasthenia gravis: An autoimmune disorder that affects the nerve-muscle connection, causing muscle weakness and fatigue.
6. Neuropathy: A term used to describe damage to the nerves, which can cause a range of symptoms including numbness, tingling, and pain in the hands and feet.
7. Charcot-Marie-Tooth disease: A group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and wasting.
8. Guillain-Barré syndrome: An autoimmune disorder that causes inflammation and damage to the nerves, leading to muscle weakness and paralysis.
9. Botulism: A bacterial infection that can cause muscle weakness and paralysis by blocking the release of the neurotransmitter acetylcholine.
10. Myotonia congenita: A genetic disorder that affects the nerve-muscle connection, causing muscle stiffness and rigidity.

These are just a few examples of neuromuscular diseases, and there are many more conditions that can cause muscle weakness and fatigue. It's important to see a doctor if you experience persistent or severe symptoms to receive an accurate diagnosis and appropriate treatment.

There are several causes of muscle weakness, including:

1. Neuromuscular diseases: These are disorders that affect the nerves that control voluntary muscle movement, such as amyotrophic lateral sclerosis (ALS) and polio.
2. Musculoskeletal disorders: These are conditions that affect the muscles, bones, and joints, such as arthritis and fibromyalgia.
3. Metabolic disorders: These are conditions that affect the body's ability to produce energy, such as hypoglycemia and hypothyroidism.
4. Injuries: Muscle weakness can occur due to injuries such as muscle strains and tears.
5. Infections: Certain infections such as botulism and Lyme disease can cause muscle weakness.
6. Nutritional deficiencies: Deficiencies in vitamins and minerals such as vitamin D and B12 can cause muscle weakness.
7. Medications: Certain medications such as steroids and anticonvulsants can cause muscle weakness as a side effect.

The symptoms of muscle weakness can vary depending on the underlying cause, but may include:

1. Fatigue: Feeling tired or weak after performing simple tasks.
2. Lack of strength: Difficulty lifting objects or performing physical activities.
3. Muscle cramps: Spasms or twitches in the muscles.
4. Muscle wasting: Loss of muscle mass and tone.
5. Difficulty speaking or swallowing: In cases where the muscle weakness affects the face, tongue, or throat.
6. Difficulty walking or standing: In cases where the muscle weakness affects the legs or lower back.
7. Droopy facial features: In cases where the muscle weakness affects the facial muscles.

If you are experiencing muscle weakness, it is important to seek medical attention to determine the underlying cause and receive proper treatment. A healthcare professional will perform a physical examination and may order diagnostic tests such as blood tests or imaging studies to help diagnose the cause of the muscle weakness. Treatment will depend on the underlying cause, but may include medication, physical therapy, or lifestyle changes. In some cases, muscle weakness may be a sign of a serious underlying condition that requires prompt medical attention.

There are two main types of systemic scleroderma: diffuse cutaneous systemic sclerosis (DCSS) and limited cutaneous systemic sclerosis (LCSS). DCSS is characterized by skin thickening and scar formation over the trunk, arms, and legs, while LCSS is characterized by skin tightening and patches of scaly skin on the hands and face.

The symptoms of systemic scleroderma can include:

* Skin hardening and tightening
* Fatigue
* Joint pain and stiffness
* Muscle weakness
* Swallowing difficulties
* Heartburn and acid reflux
* Shortness of breath
* Raynaud's phenomenon (pale or blue-colored fingers and toes in response to cold temperatures or stress)

The exact cause of systemic scleroderma is not known, but it is believed to involve a combination of genetic and environmental factors. Treatment options for systemic scleroderma include medications to manage symptoms such as pain, stiffness, and swallowing difficulties, as well as physical therapy and lifestyle modifications to improve quality of life.

In summary, systemic scleroderma is a chronic autoimmune disease that affects multiple systems in the body, causing skin hardening and thickening, fatigue, joint pain, and other symptoms. While there is no cure for systemic scleroderma, treatment options are available to manage symptoms and improve quality of life.

There are several types of dementia, each with its own set of symptoms and characteristics. Some common types of dementia include:

* Alzheimer's disease: This is the most common form of dementia, accounting for 50-70% of all cases. It is a progressive disease that causes the death of brain cells, leading to memory loss and cognitive decline.
* Vascular dementia: This type of dementia is caused by problems with blood flow to the brain, often as a result of a stroke or small vessel disease. It can cause difficulty with communication, language, and visual-spatial skills.
* Lewy body dementia: This type of dementia is characterized by the presence of abnormal protein deposits called Lewy bodies in the brain. It can cause a range of symptoms, including memory loss, confusion, hallucinations, and difficulty with movement.
* Frontotemporal dementia: This is a group of diseases that affect the front and temporal lobes of the brain, leading to changes in personality, behavior, and language.

The symptoms of dementia can vary depending on the underlying cause, but common symptoms include:

* Memory loss: Difficulty remembering recent events or learning new information.
* Communication and language difficulties: Struggling to find the right words or understand what others are saying.
* Disorientation: Getting lost in familiar places or having difficulty understanding the time and date.
* Difficulty with problem-solving: Trouble with planning, organizing, and decision-making.
* Mood changes: Depression, anxiety, agitation, or aggression.
* Personality changes: Becoming passive, suspicious, or withdrawn.
* Difficulty with movement: Trouble with coordination, balance, or using utensils.
* Hallucinations: Seeing or hearing things that are not there.
* Sleep disturbances: Having trouble falling asleep or staying asleep.

The symptoms of dementia can be subtle at first and may progress slowly over time. In the early stages, they may be barely noticeable, but as the disease progresses, they can become more pronounced and interfere with daily life. It is important to seek medical advice if you or a loved one is experiencing any of these symptoms, as early diagnosis and treatment can help improve outcomes.

Parkinson's disease is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1% of the population over the age of 60. It is more common in men than women and has a higher incidence in Caucasians than in other ethnic groups.

The primary symptoms of Parkinson's disease are:

* Tremors or trembling, typically starting on one side of the body
* Rigidity or stiffness, causing difficulty with movement
* Bradykinesia or slowness of movement, including a decrease in spontaneous movements such as blinking or smiling
* Postural instability, leading to falls or difficulty with balance

As the disease progresses, symptoms can include:

* Difficulty with walking, gait changes, and freezing episodes
* Dry mouth, constipation, and other non-motor symptoms
* Cognitive changes, such as dementia, memory loss, and confusion
* Sleep disturbances, including REM sleep behavior disorder
* Depression, anxiety, and other psychiatric symptoms

The exact cause of Parkinson's disease is not known, but it is believed to involve a combination of genetic and environmental factors. The disease is associated with the degradation of dopamine-producing neurons in the substantia nigra, leading to a deficiency of dopamine in the brain. This deficiency disrupts the normal functioning of the basal ganglia, a group of structures involved in movement control, leading to the characteristic symptoms of the disease.

There is no cure for Parkinson's disease, but various treatments are available to manage its symptoms. These include:

* Medications such as dopaminergic agents (e.g., levodopa) and dopamine agonists to replace lost dopamine and improve motor function
* Deep brain stimulation, a surgical procedure that involves implanting an electrode in the brain to deliver electrical impulses to specific areas of the brain
* Physical therapy to improve mobility and balance
* Speech therapy to improve communication and swallowing difficulties
* Occupational therapy to improve daily functioning

It is important for individuals with Parkinson's disease to work closely with their healthcare team to develop a personalized treatment plan that addresses their specific needs and improves their quality of life. With appropriate treatment and support, many people with Parkinson's disease are able to manage their symptoms and maintain a good level of independence for several years after diagnosis.

1. Complete paralysis: When there is no movement or sensation in a particular area of the body.
2. Incomplete paralysis: When there is some movement or sensation in a particular area of the body.
3. Localized paralysis: When paralysis affects only a specific part of the body, such as a limb or a facial muscle.
4. Generalized paralysis: When paralysis affects multiple parts of the body.
5. Flaccid paralysis: When there is a loss of muscle tone and the affected limbs feel floppy.
6. Spastic paralysis: When there is an increase in muscle tone and the affected limbs feel stiff and rigid.
7. Paralysis due to nerve damage: This can be caused by injuries, diseases such as multiple sclerosis, or birth defects such as spina bifida.
8. Paralysis due to muscle damage: This can be caused by injuries, such as muscular dystrophy, or diseases such as muscular sarcopenia.
9. Paralysis due to brain damage: This can be caused by head injuries, stroke, or other conditions that affect the brain such as cerebral palsy.
10. Paralysis due to spinal cord injury: This can be caused by trauma, such as a car accident, or diseases such as polio.

Paralysis can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, work, and participate in social and recreational activities. Treatment options for paralysis depend on the underlying cause and may include physical therapy, medications, surgery, or assistive technologies such as wheelchairs or prosthetic devices.

Gliosis is made up of glial cells, which are non-neuronal cells that provide support and protection to neurons. When neural tissue is damaged, glial cells proliferate and form a scar-like tissue to fill in the gap and repair the damage. This scar tissue can be made up of astrocytes, oligodendrocytes, or microglia, depending on the type of injury and the location of the damage.

Gliosis can have both beneficial and harmful effects on the brain. On one hand, it can help to prevent further damage by providing a physical barrier against invading substances and protecting the surrounding neural tissue. It can also promote healing by bringing in immune cells and growth factors that aid in the repair process.

On the other hand, gliosis can also have negative effects on brain function. The scar tissue can disrupt normal communication between neurons, leading to impaired cognitive and motor function. In addition, if the scar tissue is too extensive or severe, it can compress or displaces surrounding neural tissue, leading to long-term neurological deficits or even death.

There are several ways to diagnose gliosis, including magnetic resonance imaging (MRI), positron emission tomography (PET), and histopathology. Treatment options for gliosis depend on the underlying cause of the condition and can include medications, surgery, or a combination of both.

In summary, gliosis is a type of scar tissue that forms in the brain and spinal cord as a result of damage to neural tissue. It can have both beneficial and harmful effects on brain function, and diagnosis and treatment options vary depending on the underlying cause of the condition.

There are several types of atrophy that can occur in different parts of the body. For example:

1. Muscular atrophy: This occurs when muscles weaken and shrink due to disuse or injury.
2. Neuronal atrophy: This occurs when nerve cells degenerate, leading to a loss of cognitive function and memory.
3. Cardiac atrophy: This occurs when the heart muscle weakens and becomes less efficient, leading to decreased cardiac output.
4. Atrophic gastritis: This is a type of stomach inflammation that can lead to the wasting away of the stomach lining.
5. Atrophy of the testes: This occurs when the testes shrink due to a lack of use or disorder, leading to decreased fertility.

Atrophy can be diagnosed through various medical tests and imaging studies, such as MRI or CT scans. Treatment for atrophy depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, atrophy can be prevented or reversed with proper treatment and care.

In summary, atrophy is a degenerative process that can occur in various parts of the body due to injury, disease, or disuse. It can lead to a loss of function and decreased quality of life, but with proper diagnosis and treatment, it may be possible to prevent or reverse some forms of atrophy.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


There are several types of respiratory insufficiency, including:

1. Hypoxemic respiratory failure: This occurs when the lungs do not take in enough oxygen, resulting in low levels of oxygen in the bloodstream.
2. Hypercapnic respiratory failure: This occurs when the lungs are unable to remove enough carbon dioxide from the bloodstream, leading to high levels of carbon dioxide in the bloodstream.
3. Mixed respiratory failure: This occurs when both hypoxemic and hypercapnic respiratory failure occur simultaneously.

Treatment for respiratory insufficiency depends on the underlying cause and may include medications, oxygen therapy, mechanical ventilation, and other supportive care measures. In severe cases, lung transplantation may be necessary. It is important to seek medical attention if symptoms of respiratory insufficiency are present, as early intervention can improve outcomes and prevent complications.

There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.

SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.

There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.

Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.

Examples of Nervous System Diseases include:

1. Alzheimer's disease: A progressive neurological disorder that affects memory and cognitive function.
2. Parkinson's disease: A degenerative disorder that affects movement, balance and coordination.
3. Multiple sclerosis: An autoimmune disease that affects the protective covering of nerve fibers.
4. Stroke: A condition where blood flow to the brain is interrupted, leading to brain cell death.
5. Brain tumors: Abnormal growth of tissue in the brain.
6. Neuropathy: Damage to peripheral nerves that can cause pain, numbness and weakness in hands and feet.
7. Epilepsy: A disorder characterized by recurrent seizures.
8. Motor neuron disease: Diseases that affect the nerve cells responsible for controlling voluntary muscle movement.
9. Chronic pain syndrome: Persistent pain that lasts more than 3 months.
10. Neurodevelopmental disorders: Conditions such as autism, ADHD and learning disabilities that affect the development of the brain and nervous system.

These diseases can be caused by a variety of factors such as genetics, infections, injuries, toxins and ageing. Treatment options for Nervous System Diseases range from medications, surgery, rehabilitation therapy to lifestyle changes.

In contrast to relapsing-remitting MS, which is the most common form of the disease and is marked by acute relapses followed by periods of recovery, CPMS is characterized by a gradual and persistent worsening of symptoms. This can include difficulties with walking, balance, and coordination, as well as cognitive impairment, fatigue, and other neurological problems.

The cause of CPMS is not fully understood, but it is believed to involve a combination of genetic and environmental factors that trigger an abnormal immune response against the protective covering of nerve fibers in the CNS. This leads to inflammation, demyelination (loss of the fatty insulation around nerve fibers), and axonal damage, which can result in a range of neurological symptoms.

There is currently no cure for CPMS, but various treatments are available that can help manage symptoms and slow disease progression. These may include medications to reduce inflammation and modulate the immune system, as well as physical therapy, occupational therapy, and other forms of supportive care.

The prognosis for CPMS is generally poorer than for relapsing-remitting MS, with a more rapid decline in neurological function over time. However, the rate of progression can vary widely between individuals, and some people with CPMS may experience a relatively slow decline, while others may experience a more rapid decline.

Overall, chronic progressive multiple sclerosis is a debilitating and challenging condition that requires careful management and supportive care to help improve quality of life and slow disease progression.

There are several types of muscular atrophy, including:

1. Disuse atrophy: This type of atrophy occurs when a muscle is not used for a long period, leading to its degeneration.
2. Neurogenic atrophy: This type of atrophy occurs due to damage to the nerves that control muscles.
3. Dystrophic atrophy: This type of atrophy occurs due to inherited genetic disorders that affect muscle fibers.
4. Atrophy due to aging: As people age, their muscles can degenerate and lose mass and strength.
5. Atrophy due to disease: Certain diseases such as cancer, HIV/AIDS, and muscular dystrophy can cause muscular atrophy.
6. Atrophy due to infection: Infections such as polio and tetanus can cause muscular atrophy.
7. Atrophy due to trauma: Traumatic injuries can cause muscular atrophy, especially if the injury is severe and leads to prolonged immobilization.

Muscular atrophy can lead to a range of symptoms depending on the type and severity of the condition. Some common symptoms include muscle weakness, loss of motor function, muscle wasting, and difficulty performing everyday activities. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, medication, and lifestyle changes such as exercise and dietary modifications. In severe cases, surgery may be necessary to restore muscle function.

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 and Frontotemporal ... Wikimedia Commons has media related to Amyotrophic lateral sclerosis. ALS Association Official Website Amyotrophic lateral ... see Amyotrophic lateral sclerosis research#Past clinical trials. Wijesekera LC, Leigh PN (February 2009). "Amyotrophic lateral ...
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 ... 2019). "Stratification of amyotrophic lateral sclerosis patients: a crowdsourcing approach". Scientific Reports. 5562 (9): 690 ... Mitsumoto H, Brooks BR, Silani V (November 2014). "Clinical trials in amyotrophic lateral sclerosis: why so many negative ...
... models and biomarkers in amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14 (1): ... "Amyotrophic Lateral Sclerosis (ALS) Fact Sheet , National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. ... There are more than 25 genes known to be associated with amyotrophic lateral sclerosis (ALS) as of June 2018, which ... Al-Saif A, Al-Mohanna F, Bohlega S (2011). "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis". ...
Amyotrophic Lateral Sclerosis. 10: 74-78. doi:10.3109/17482960903272942. PMID 19929737. S2CID 41880444. Stewart I, Seawright AA ... 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, ...
Rowland, Lewis P.; Shneider, Neil A. (31 May 2001). "Amyotrophic Lateral Sclerosis". New England Journal of Medicine. 344 (22 ... In some rare cases, acquired neuromyotonia has been misdiagnosed as amyotrophic lateral sclerosis (ALS) particularly if ... "Complex fasciculations and their origin in amyotrophic lateral sclerosis and Kennedy's disease". Muscle & Nerve. 23 (12): 1872- ... Similarly, multiple sclerosis has been the initial misdiagnosis in some NMT patients. In order to get an accurate diagnosis see ...
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease is a progressive neurodegenerative disease that affects ... which is used for the treatment of amyotrophic lateral sclerosis (Lou Gehrig's disease). It is similar in action to mecasermin ... Amyotrophic Lateral Sclerosis. 10 (4): 248-50. 2009. doi:10.1080/17482960903208599. PMID 19701824.{{cite journal}}: CS1 maint: ... 2009 the FDA announced that mecasermin rinfabate would be made available to Americans with amyotrophic lateral sclerosis (ALS ...
"A new editor for the "Black but not bleak" journal - ALS research is coming of age". Amyotrophic Lateral Sclerosis. 9: 3. 2008 ... She leads a team of 30 researchers focussing on clinical and translational aspects of amyotrophic lateral sclerosis and related ... Since 2008 she has been the editor in chief of the field journal "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ... Her main research interests are amyotrophic lateral sclerosis (motor neurone disease) and related motor neuron degenerations, ...
"Senataxin mutations and amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 12 (3): 223-7. doi:10.3109/17482968.2010 ...
"A cluster of amyotrophic lateral sclerosis in New Hampshire: A possible role for toxic cyanobacteria blooms". Amyotrophic ... 2009) suggested that bioaerosls from cyanobacteria blooms could play a role in high incidences of amyotrophic lateral sclerosis ... Lateral Sclerosis. 10 (sup2): 101-108. doi:10.3109/17482960903278485. ISSN 1748-2968. PMID 19929741. S2CID 35250897. Backer, ...
"A cluster of amyotrophic lateral sclerosis in New Hampshire: a possible role for toxic cyanobacteria blooms". Amyotrophic ... Amyotrophic Lateral Sclerosis. 10 (Suppl 2): 109-17. doi:10.3109/17482960903286066. PMID 19929742. S2CID 1748627. Main D (2006 ... that significant exposure to high levels of cyanobacteria producing toxins such as BMAA can cause amyotrophic lateral sclerosis ... Lateral Sclerosis. 10 (Suppl 2): 101-08. doi:10.3109/17482960903278485. PMID 19929741. S2CID 35250897. Cox PA, Richer R, ...
Amyotrophic Lateral Sclerosis. 10 (5-6): 436-40. doi:10.3109/17482960902759162. PMID 19922137. S2CID 2326464. Tiziano FD, Pinto ...
"A cluster of amyotrophic lateral sclerosis in New Hampshire: a possible role for toxic cyanobacteria blooms". Amyotrophic ... that significant exposure to high levels of cyanobacteria producing toxins such as BMAA can cause amyotrophic lateral sclerosis ... Lateral Sclerosis. 10 (Suppl 2): 101-08. doi:10.3109/17482960903278485. PMID 19929741. S2CID 35250897. State Issues ...
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): ...
"Differential gene expression in patients with amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 12 (4): 250-6. doi ... PRR32 (CXorf64) seems to be involved with a group of genes over-expressed in ALS (Amyotrophic lateral sclerosis), evident from ... An experiment analyzed gene expression pattern in muscles from patients with amyotrophic lateral sclerosis (ALS) and multifocal ... a study aiming to study gene expression patterns in muscles from patients with amyotrophic lateral sclerosis and multifocal ...
Amyotrophic Lateral Sclerosis. 9 (2): 120-1. doi:10.1080/17482960701855864. PMID 18428004. S2CID 43321868. Perrotta G (2019). " ... needle electromyography and clinical observation in the detection of fasciculation in people with amyotrophic lateral sclerosis ...
In 2008, Scott was lead author of a landmark publication in the journal, Amyotrophic Lateral Sclerosis that described ... the world's largest amyotrophic lateral sclerosis research center. Scott himself was diagnosed with ALS in 2008 at the age of ... Amyotrophic Lateral Sclerosis. 9 (1): 4-15. doi:10.1080/17482960701856300. PMID 18273714. S2CID 21962544. Schnabel, Jim (2008- ...
... multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). It has been reported as a symptom ... A study designed specifically to survey for prevalence found that 49% of patients with amyotrophic lateral sclerosis (ALS) also ... McCullagh S, Moore M, Gawel M, Feinstein A (1999). "Pathological laughing and crying in amyotrophic lateral sclerosis: an ... Caroscio JT, Mulvihill MN, Sterling R, Abrams B (1987). "Amyotrophic lateral sclerosis". Neurologic Clinics. 5 (1): 1-8. doi: ...
"A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis. 11 (3): 266-271 ... and amyotrophic lateral sclerosis (ALS). As of May 2010, results from the trial for ALS have been found negative. Talampanel is ...
Pete Duranko, 67, American football player (Denver Broncos), amyotrophic lateral sclerosis. Mary Fenech Adami, 77, Maltese ... amyotrophic lateral sclerosis. Sir John Rawlins, 89, British naval officer, pioneer of diving medicine. Eduard Rozovsky, 84, ...
The culmination of this work is a paper published in the journal "Amyotrophic Lateral Sclerosis" that identified crucial errors ... Clark JE, Brennan A, Ramesh TM, Heywood JA (2002). "Novel trends in orphan market drug discovery: amyotrophic lateral sclerosis ... when his younger brother Stephen Heywood was diagnosed with amyotrophic lateral sclerosis (ALS) in December 1998. He is ... Amyotrophic Lateral Sclerosis. 9 (1): 4-15. doi:10.1080/17482960701856300. PMID 18273714. S2CID 21962544. "Technology Review: ...
March 5 Abril Campillo (58), actress; breast cancer (b. 1958). Tony Flores (67), comedian; Amyotrophic Lateral Sclerosis. ...
It has been studied for its potential use in the treatment of amyotrophic lateral sclerosis (ALS), but a study showed lithium ... Ludolph, AC; Brettschneider, J; Weishaupt, JH (October 2012). "Amyotrophic lateral sclerosis". Current Opinion in Neurology. 25 ...
"Clinical Manifestation and Management of Amyotrophic Lateral Sclerosis". Amyotrophic Lateral Sclerosis. Exon Publications. pp. ... and Amyotrophic Lateral Sclerosis (ALS). Pridopidine works by binding and activating an intracellular protein called the Sigma- ...
Amyotrophic Lateral Sclerosis. 11 (5): 449-55. doi:10.3109/17482961003777470. PMID 20583947. S2CID 4713118. Ajiboye AB, Willett ...
Ludolph AC, Brettschneider J, Weishaupt JH (October 2012). "Amyotrophic lateral sclerosis". Current Opinion in Neurology. 25 (5 ... and in amyotrophic lateral sclerosis / frontotemporal lobar degeneration (FTLD), certain gene-regulating proteins ... suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis". PLOS ONE. 5 (5): e10627. doi:10.1371/journal. ... prion-like mechanisms in amyotrophic lateral sclerosis". Neurobiology of Disease. 77: 257-65. doi:10.1016/j.nbd.2015.02.009. ...
Amyotrophic Lateral Sclerosis. 10 (sup2): 7-20. doi:10.3109/17482960903286009. PMID 19929726. S2CID 41622254. Cox PA, Banack SA ... occurs exclusively in the Chamorro people of the island of Guam that has characteristics of both amyotrophic lateral sclerosis ... The Lytico-bodig disease, also known as lateral sclerosis-parkinsonism-dementia, is a neurodegenerative disease of unknown ... It is clinically characterized by weight loss followed by lateral swaying of the hind quarters, with weakness, ataxia, and ...
"Differentiation Between Primary Lateral Sclerosis and Amyotrophic Lateral Sclerosis". Archives of Neurology. 64 (2): 232-6. doi ... "Progression in primary lateral sclerosis: A prospective analysis". Amyotrophic Lateral Sclerosis. 10 (5-6): 339-46. doi:10.3109 ... "Clinical Differentiation Between Primary Lateral Sclerosis and Upper Motor Neuron Predominant Amyotrophic Lateral Sclerosis". ... "Primary lateral sclerosis (PLS) - Symptoms and causes". Mayo Clinic. "Primary Lateral Sclerosis Information Page". National ...
Vyas, KJ; Weiss, JH (2009). "BMAA--an unusual cyanobacterial neurotoxin". Amyotrophic Lateral Sclerosis. 10: 50-55. doi:10.3109 ... Brand, LE (2009). "Human exposure to cyanobacteria and BMAA". Amyotrophic Lateral Sclerosis. 20: 85-95. doi:10.3109/ ... amyotrophic lateral sclerosis (ALS), Parkinson's disease, alcoholism, alcohol withdrawal or hyperammonemia and especially over- ... has long been identified as a neurotoxin which was first associated with the amyotrophic lateral sclerosis/parkinsonism- ...
Rocky Wood, 55, New Zealand-born Australian author, amyotrophic lateral sclerosis. Don L. Anderson, 81, American geophysicist, ... Aleksandar Petrović, 55, Serbian basketball coach, amyotrophic lateral sclerosis. Roberto Sagastume Pinto, 70, Guatemalan ...
It has been proposed as a relatively specific sign for amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease). It can also ... April 2008). "Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: frequency, extent, and specificity". ... "Dissociated small hand muscle involvement in amyotrophic lateral sclerosis detected by motor unit number estimates". Muscle ... In medicine, split hand syndrome is a neurological syndrome in which the hand muscles on the side of the thumb (lateral, thenar ...
He died in 2007 at age 53, after an eight-year battle with amyotrophic lateral sclerosis (ALS), better known as Lou Gehrig's ...
Shortly after arriving in Sweden, he was diagnosed with amyotrophic lateral sclerosis and died in 2008. His wife, Gun Holmström ...
After being diagnosed with amyotrophic lateral sclerosis in 2017, Scott-Morgan underwent a series of operations which allowed ...
Amyotrophic lateral sclerosis (ALS), Huntington's disease, Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine ... "Morphometrical reappraisal of motor neuron system of Pick's disease and amyotrophic lateral sclerosis with dementia". Acta ...
Finney announced in an essay on the blog Less Wrong that he had been diagnosed with amyotrophic lateral sclerosis (ALS) in ...
... were afflicted with amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) while their sons were playing in the major ...
... forced out of action permanently by amyotrophic lateral sclerosis (ALS) and facing his impending death, gave a legendary ...
In persons with amyotrophic lateral sclerosis (ALS), the enzymes that normally repair 8-oxoG DNA damages in the mtDNA of spinal ... DNA repair enzymes against accumulation of 8-oxo-guanine in the spinal motor neurons of amyotrophic lateral sclerosis". Acta ...
... subacute Cerebellar hypoplasia Cerebellar hypoplasia endosteal sclerosis Cerebellar hypoplasia tapetoretinal degeneration ... pituitary deficiency Cleft lip palate-tetraphocomelia Cleft lip with or without cleft palate Cleft lower lip cleft lateral ... type Chordoma Chorea Chorea acanthocytosis Chorea familial benign Chorea minor Choreoacanthocytosis amyotrophic Choreoathetosis ... Cleft palate colobomata radial synostosis deafness Cleft palate heart disease polydactyly absent tibia Cleft palate lateral ...
... amyotrophic lateral sclerosis, hereditary spastic paraplegias, primary lateral sclerosis) Corticostriatal projection neurons ( ...
Marvin died from amyotrophic lateral sclerosis, at the age of 61. "Mickey Marvin Player Statistics". Pro Football Reference. ...
Chiari malformation Klippel-Feil Syndrome Dystonia Cerebral palsy Parkinson's disease Epilepsies Amyotrophic lateral sclerosis ...
Sue Rodriguez (1950-1994) - amyotrophic lateral sclerosis (ALS) sufferer and right to die advocate Alexander Milton Ross (1832- ...
... and TDP-43 in Amyotrophic Lateral Sclerosis (ALS) and frontotemporal degeneration. John Quinn Trojanowski was born on December ...
Hillenburg announced he was diagnosed with amyotrophic lateral sclerosis (ALS) in 2017 but stated he would continue working on ... Hillenburg disclosed to Variety magazine in March 2017 that he had been diagnosed with amyotrophic lateral sclerosis (ALS), a ... and the National Multiple Sclerosis Society, among other national health organizations. In education, they have donated to ...
In April 2018, Levy announced that he had Amyotrophic lateral sclerosis in an Op-Ed arguing for educational reforms for college ...
Amyotrophic Lateral Sclerosis (MND/ALS). Khan served two terms as the chairman of the prominent British charity Leonard ...
... but had withdrawn due to his being diagnosed with amyotrophic lateral sclerosis. Bélanger died on August 15, 2016, five months ...
2022). "Identification of Therapeutic Targets for Amyotrophic Lateral Sclerosis Using PandaOmics - An AI-Enabled Biological ...
... and adult onset disabilities such as Amyotrophic Lateral Sclerosis (ALS). Bruce Baker was the first to develop the idea of ...
Amyotrophic lateral sclerosis (ALS), Huntington's disease, Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine ... "Morphometrical reappraisal of motor neuron system of Pick's disease and amyotrophic lateral sclerosis with dementia". Acta ...
It is best known for its experimental drug, GM604, which seeks to treat Amyotrophic lateral sclerosis (ALS), also known as Lou ...
Dmitri Vasilenko, 43, Russian gymnast, Olympic champion (1996), amyotrophic lateral sclerosis. Omero Antonutti, 84, Italian ... amyotrophic lateral sclerosis. Phil Wyman, 74, American politician, member of the California State Assembly (1978-1992, 2000- ...
"Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia". Amyotrophic Lateral ... Mutations in this gene may be a rare cause of amyotrophic lateral sclerosis, also called Lou Gehrig's disease. Profilin 1 has ... May 2013). "Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia". Neurobiology ... July 2013). "PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis". Neurobiology of Aging. 34 ...
Also, those who acquire a disability due to an accident or a disease like amyotrophic lateral sclerosis (ALS) may require hand ...
RT001 was given to a patient with amyotrophic lateral sclerosis (ALS) under a "compassionate use scheme". In 2020, the FDA ...
Mickey Marvin, 61, American football player (Oakland Raiders), amyotrophic lateral sclerosis. Jehoash Mayanja Nkangi, 85, ...
1965) "Pathology of amyotrophic lateral sclerosis," in Slow Latent and Temperate Virus Infections, National Institute of ... Hirano bodies were first described in the CA1 in patients with amyotrophic lateral sclerosis and parkinsonism-dementia complex ...
ALS Meta description needed.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs Disease, is a rare neurological disease that affects motor ... What is amyotrophic lateral sclerosis (ALS)?. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs Disease, is a ... How is amyotrophic lateral sclerosis (ALS) diagnosed and treated?. Diagnosing ALS. There is no single test that can definitely ... How can I or my loved one help improve care for people with amyotrophic lateral sclerosis (ALS)?. The National ALS Registry is ...
ALS stands for Amyotrophic Lateral Sclerosis, also called Lou Gehrigs disease. ALS affects the nervous system, causing muscle ... Amyotrophic lateral sclerosis (ALS) (Medical Encyclopedia) Also in Spanish * Swallowing problems (Medical Encyclopedia) Also in ... Amyotrophic Lateral Sclerosis (ALS) (National Institute of Neurological Disorders and Stroke) Also in Spanish ... Amyotrophic Lateral Sclerosis (Mayo Foundation for Medical Education and Research) Also in Spanish ...
Find symptoms and other information about Amyotrophic lateral sclerosis. ... Amyotrophic lateral sclerosis. Other Names: ALS; Charcot disease; Lou Gehrig diseaseALS; Charcot disease; Lou Gehrig disease. ... Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrigs disease," is a motor neuron disease which leads to ... Amyotrophic lateral sclerosis Generalized muscle weakness Motor neuron atrophy Neurodegeneration Abnormal respiratory system ...
Amyotrophic Lateral Sclerosis (ALS). (n.d.). National Institute of Neurological Disorders and Stroke. ​. ... diagnosing or providing treatment for a patient with a neurodegenerative disease such as Amyotrophic lateral sclerosis (ALS)​ ...
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Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that ... AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 ... FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 ... FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 ...
ALS stands for Amyotrophic Lateral Sclerosis, also called Lou Gehrigs disease. ALS affects the nervous system, causing muscle ... Amyotrophic lateral sclerosis (ALS) (Medical Encyclopedia) Also in Spanish * Swallowing problems (Medical Encyclopedia) Also in ... Amyotrophic Lateral Sclerosis (ALS) (National Institute of Neurological Disorders and Stroke) Also in Spanish ... Amyotrophic Lateral Sclerosis (Mayo Foundation for Medical Education and Research) Also in Spanish ...
Stem cell-derived human motor neurons were used to investigate the cellular mechanisms underlying C9ORF72-related amyotrophic ... For roughly 15 Americans each day, a diagnosis of amyotrophic lateral sclerosis (ALS) foreshadows the progressive loss of ... A human cellular model of amyotrophic lateral sclerosis. *Rebecca M Marton1 & ... Marton, R., Paşca, S. A human cellular model of amyotrophic lateral sclerosis. Nat Med 24, 256-257 (2018). https://doi.org/ ...
AMYOTROPHIC LATERAL SCLEROSIS NIH GUIDE, Volume 22, Number 7, February 19, 1993 PA NUMBER: PA-93-54 P.T. 34 Keywords: ... This program announcement, Amyotrophic Lateral Sclerosis, is related to the priority area of chronic disabling diseases. ... "Amyotrophic Lateral Sclerosis" PA-93-54. The original and five copies of the PHS 398 application or two copies of PHS 416-1 ... concerning amyotrophic lateral sclerosis (ALS). ALS is a progressive fatal neuromuscular disease, the prototype and most common ...
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that ... AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 ... FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 ... FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3. *FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 ...
Nath and his research team are conducting an NIH study to better understand amyotrophic lateral sclerosis or ALS. In the video ... Volunteer Story: John (amyotrophic lateral sclerosis (ALS)). @font-face{font-family:Roboto;font-style:normal;font-weight:400; ...
... to treat patients with amyotrophic lateral sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene ... FDA approves treatment of amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene. * Share ... FDA approved Qalsody (tofersen) to treat patients with amyotrophic lateral sclerosis (ALS) associated with a mutation in the ... FDA approves treatment of amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene ...
Amyotrophic lateral sclerosis (ALS) is the most common type of adult-onset motor neuron disease. Adult-onset motor neuron ... Amyotrophic Lateral Sclerosis in Physical Medicine and Rehabilitation * Sections Amyotrophic Lateral Sclerosis in Physical ... How is spasticity treated in amyotrophic lateral sclerosis (ALS)?. How is pain managed in amyotrophic lateral sclerosis (ALS)? ... encoded search term (Amyotrophic Lateral Sclerosis in Physical Medicine and Rehabilitation) and Amyotrophic Lateral Sclerosis ...
Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system disease that ... Amyotrophic lateral sclerosis is difficult to diagnose early because it can mimic other neurological diseases. Tests to rule ... Treatments cant reverse the damage of amyotrophic lateral sclerosis, but they can slow the progression of symptoms, prevent ... Think beyond the physical changes. Many people with amyotrophic lateral sclerosis lead rewarding lives despite physical ...
The administration of guanidine in amyotrophic lateral sclerosis. FORBES H. NORRIS, PHILIP R. CALANCHINI, ROBERT J. FALLAT, ... The administration of guanidine in amyotrophic lateral sclerosis. FORBES H. NORRIS, PHILIP R. CALANCHINI, ROBERT J. FALLAT, ... Empirical treatment of patients with amyotrophic lateral sclerosis suggested that some modification of the classical downhill ...
... View/. Open. WDI-1996-10-n2-p61-62-eng.pdf (‎131.1Kb ... Unknown author (‎1996)‎. Riluzole for amyotrophic lateral sclerosis : reports on individual drugs. WHO drug information 1996 ; ...
Our objectives were to summarize literature on the association of amyotrophic lateral sclerosis (ALS) with pesticides as a ... Pesticide exposure and amyotrophic lateral sclerosis Freya Kamel 1 , David M Umbach, Richard S Bedlack, Marie Richards, Mary ... Pesticide exposure and amyotrophic lateral sclerosis Freya Kamel et al. Neurotoxicology. 2012 Jun. ... Extracellular Vesicles as Potential Biomarkers in Amyotrophic Lateral Sclerosis. Barbo M, Ravnik-Glavač M. Barbo M, et al. ...
Amyotrophic Lateral Sclerosis / genetics* * Amyotrophic Lateral Sclerosis / immunology * Amyotrophic Lateral Sclerosis / ... A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis ... mouse model of amyotrophic lateral sclerosis (ALS). We found that SOD1(G93A) microglia are not derived from infiltrating ...
... there is no cure for amyotrophic lateral sclerosis (ALS) and the foundation of ALS management revolves around symptomatic and ... Disease-modifying treatment of amyotrophic lateral sclerosis Jordan Schultz. Am J Manag Care. 2018 Aug. ... Edaravone: a new hope for deadly amyotrophic lateral sclerosis. Bhandari R, Kuhad A, Kuhad A. Bhandari R, et al. Drugs Today ( ... Riluzole and edaravone: A tale of two amyotrophic lateral sclerosis drugs. Jaiswal MK. Jaiswal MK. Med Res Rev. 2019 Mar;39(2): ...
Amyotrophic Lateral Sclerosis Genetic and Rare Diseases Information Center resources: Primary Lateral Sclerosis Amyotrophic ... MedlinePlus Genetics related topics: Amyotrophic lateral sclerosis Juvenile primary lateral sclerosis MedlinePlus related ... Amyotrophic Lateral Sclerosis. Sclerosis. Disease Progression. Pathologic Processes. Neurodegenerative Diseases. Nervous System ... Integrated Parts 1 and 2: Change From Part 1 Baseline in Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised ( ...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14(Suppl 1): 5-18. Abstract. Amyotrophic lateral sclerosis (ALS) ... Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis. ... Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. ... Primary lateral sclerosis has predominant UMN involvement. Progressive muscular atrophy has predominant LMN involvement. Bulbar ...
Compositions and methods for inhibiting NF-κB and SOD-1 to treat amyotrophic lateral sclerosis (U.S. Patent Number 9,725,719). ... Compositions and methods for inhibiting NF-κB and SOD-1 to treat amyotrophic lateral sclerosis (U.S. Patent Number 9,725,719) ... and uses for the treatment of amyotrophic lateral sclerosis. In particular, the invention relates to the pharmaceutical ...
Amyotrophic Lateral Sclerosis/epidemiology ; Public Health Surveillancd Amyotrophic Lateral Sclerosis/epidemiology ; Public ... Summary report : Amyotrophic Lateral Sclerosis and Multiple Sclerosis Surveillance annual meeting : June 24-25, 2009 : Issues ... Title : Summary report : Amyotrophic Lateral Sclerosis and Multiple Sclerosis Surveillance annual meeting : June 24-25, 2009 : ... "Summary report : Amyotrophic Lateral Sclerosis and Multiple Sclerosis Surveillance annual meeting : June 24-25, 2009 : Issues ...
Amyotrophic Lateral Sclerosis (ALS). Fetch Headings.ExtraData Below are groups and resources (books, articles, websites, etc.) ...
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs Disease, is a rare neurological disease that affects motor ... What is amyotrophic lateral sclerosis (ALS)?. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs Disease, is a ... How is amyotrophic lateral sclerosis (ALS) diagnosed and treated?. Diagnosing ALS. There is no single test that can definitely ... How can I or my loved one help improve care for people with amyotrophic lateral sclerosis (ALS)?. The National ALS Registry is ...
Effective monitoring of bulbar disease progression in persons with amyotrophic lateral sclerosis (ALS) requires rapid, ... Effective monitoring of bulbar disease progression in persons with amyotrophic lateral sclerosis (ALS) requires rapid, ... extracted formant trajectories with intelligibility loss and speaking rate decline in amyotrophic lateral sclerosis ... extracted formant trajectories with intelligibility loss and speaking rate decline in amyotrophic lateral sclerosis ...
Amyotrophic Lateral Sclerosis (ALS) in the Genomics Age: Facts, Uncertainties and the Way Forward ... CC Grand Rounds: Amyotrophic Lateral Sclerosis (ALS) in the Genomics Age: Facts, Uncertainties and the Way Forward. Download ... CC Grand Rounds: Amyotrophic Lateral Sclerosis (ALS) in the Genomics Age: Facts, Uncertainties and the Way Forward. For more ... Amyotrophic lateral sclerosis (ALS) in the genomics age : facts, uncertainties, and the way / Camilo Toro and Bryan Traynor. ...
  • Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. (ox.ac.uk)
  • Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons. (whiterose.ac.uk)
  • Project Summary Amyotrophic lateral sclerosis is an adult onset neurodegenerative disease characterized by loss of motor neurons resulting in stiffness, weakness, muscle atrophy and death from failure of respiratory muscle 3-5 years after diagnosis. (neurodegenerationresearch.eu)
  • Subtypes of the disease are defined by location of damage, as in progressive bulbar palsy, or preferential involvement of upper or lower motor neuron, as in primary lateral sclerosis or spinal muscular atrophy. (nih.gov)
  • Effective monitoring of bulbar disease progression in persons with amyotrophic lateral sclerosis (ALS) requires rapid, objective, automatic assessment of speech loss. (mit.edu)
  • Autosomal recessive familial amyotrophic lateral sclerosis (RFALS) is a rare form of ALS that usually presents at an early age with slow progression of symptoms. (duke.edu)
  • Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14(Suppl 1): 5-18. (harvard.edu)
  • Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. (nih.gov)
  • The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. (uni-koeln.de)
  • Our objective was to identify whether rare genetic variation in amyotrophic lateral sclerosis (ALS) candidate survival genes modifies ALS survival. (ox.ac.uk)
  • Objective - to identify risk factors in patients diagnosed with Amyotrophic Lateral Sclerosis in Georgia directed to The First University Clinic of TSMU and P. Sarajishvili Institute of Neurology . (bvsalud.org)
  • Amyotrophic lateral sclerosis ( ALS ) is the most common type of adult-onset motor neuron disease (MND). (medscape.com)
  • FDA approved Qalsody (tofersen) to treat patients with amyotrophic lateral sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene (SOD1-ALS). (fda.gov)
  • Project Narrative Novel therapies are being developed for Amyotrophic Lateral Sclerosis (ALS) caused by changes in the gene superoxide dismutase 1 (SOD1). (neurodegenerationresearch.eu)
  • Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. (nih.gov)
  • Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control. (augustahealth.com)
  • Amyotrophic lateral sclerosis (ALS) is a rare neurological disease resulting in progressive loss of voluntary muscle control. (unb.ca)
  • Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. (harvard.edu)
  • Primary lateral sclerosis has predominant UMN involvement. (harvard.edu)
  • Title : Florida state-based Amyotrophic Lateral Sclerosis (ALS) surveillance project summary Corporate Authors(s) : McKing Consulting Corporation. (cdc.gov)
  • This program announcement, Amyotrophic Lateral Sclerosis, is related to the priority area of chronic disabling diseases. (nih.gov)
  • Empirical treatment of patients with amyotrophic lateral sclerosis suggested that some modification of the classical downhill course occurred in nonfamilial cases during administration of guanidine hydrochloride in dosages of at least 10 mg per kilogram per day for three months or more. (neurology.org)
  • A proportion of patients with frontotemporal dementia (FTD) also develop amyotrophic lateral sclerosis (ALS). (edu.au)
  • Totally 53 patients , aged 24 to 82 years, were investigated with Amyotrophic Lateral Sclerosis (ALS), defined by " Gold Coast " criteria. (bvsalud.org)
  • AMYOTROPHIC LATERAL SCLEROSIS NIH GUIDE, Volume 22, Number 7, February 19, 1993 PA NUMBER: PA-93-54 P.T. 34 Keywords: Neuromuscular Disorders Biology, Cellular Epidemiology Etiology Cell Lines Disease Model National Institute of Neurological Disorders and Stroke PURPOSE The National Institute of Neurological Disorders and Stroke (NINDS) invites research grant applications seeking support of a wide spectrum of research directed at generating improved knowledge concerning amyotrophic lateral sclerosis (ALS). (nih.gov)
  • Purpose: The current study investigated whether articulatory kinematic patterns can be extrapolated across the spectrum of dysarthria severity in individuals with amyotrophic lateral sclerosis (ALS). (elsevier.com)
  • The invention relates to the pharmaceutical compositions, kits, methods, and uses for the treatment of amyotrophic lateral sclerosis. (nih.gov)
  • Stem cell-derived human motor neurons were used to investigate the cellular mechanisms underlying C9ORF72 -related amyotrophic lateral sclerosis. (nature.com)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, is a rare neurological disease that affects motor neurons-those nerve cells in the brain and spinal cord that control voluntary muscle movement. (nih.gov)
  • Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. (medlineplus.gov)
  • Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a motor neuron disease which leads to problems with muscle control and movement. (nih.gov)
  • Amyotrophic lateral sclerosis (ALS) was once commonly known as Lou Gehrig's disease, after the famous ballplayer in the 1940s who retired because of the disease. (nih.gov)
  • Dr. Nath and his research team are conducting an NIH study to better understand amyotrophic lateral sclerosis or ALS. (nih.gov)
  • Any condition or situation which, in the PI's opinion, could confound the biomarker data or may interfere significantly with the individual's participation and compliance with the study protocol, including but not limited to neurological, psychological and/or medical conditions (e.g., multiple sclerosis, neuropathy, myelopathy). (clinicaltrials.gov)
  • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. (duke.edu)
  • Respiratory Strength Training in Amyotrophic Lateral Sclerosis: A Double-Blind, Randomized, Multicenter, Sham-Controlled Trial. (nih.gov)
  • Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral Sclerosis. (alzforum.org)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, is a rare neurological disease that affects motor neurons-those nerve cells in the brain and spinal cord that control voluntary muscle movement. (nih.gov)
  • Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a motor neuron disease which leads to problems with muscle control and movement. (nih.gov)
  • Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or Charcot disease, is a fatal neurodegenerative disease that affects motor neurons (MNs) and leads to death within 2-5 years of diagnosis, without any effective therapy available. (nih.gov)
  • The protocol for non-autoimmune neurodegenerative diseases such as amyotrophic lateral sclerosis, remains to be established by future studies. (medscape.com)
  • Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease involving both the brain and spinal cord. (nih.gov)
  • In response to concerns about occupational and environmental exposures, and a perceived cluster of amyotrophic lateral sclerosis (ALS) in the community, the mortality experience among 31,811 civilian employees who worked for at least 1 year between 1981 and 2000 at Kelly Air Force Base, Texas was ascertained. (medscape.com)
  • When Do Symptoms of Amyotrophic lateral sclerosis Begin? (nih.gov)
  • Kanouchi T, Ohkubo T, Yokota T. Can regional spreading of amyotrophic lateral sclerosis motor symptoms be explained by prion-like propagation? (medscape.com)
  • El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. (medscape.com)
  • Clinical diagnosis and management of amyotrophic lateral sclerosis. (medscape.com)
  • This program announcement, Amyotrophic Lateral Sclerosis, is related to the priority area of chronic disabling diseases. (nih.gov)