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.
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).
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 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)
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Introduction of therapeutic agents into the spinal region using a needle and syringe.
Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
The 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment. The spinal nerve plexuses and the spinal roots are also included.
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Procedure in which an anesthetic is injected directly into the spinal cord.
Paired bundles of NERVE FIBERS entering and leaving the SPINAL CORD at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots are efferent, comprising the axons of spinal motor and PREGANGLIONIC AUTONOMIC FIBERS.
Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.
Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.
Narrowing of the spinal canal.
Operative immobilization or ankylosis of two or more vertebrae by fusion of the vertebral bodies with a short bone graft or often with diskectomy or laminectomy. (From Blauvelt & Nelson, A Manual of Orthopaedic Terminology, 5th ed, p236; Dorland, 28th ed)
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Injuries involving the vertebral column.
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Neurons which activate MUSCLE CELLS.
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.
Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain.
Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.
The spinal or vertebral column.
A group of twelve VERTEBRAE connected to the ribs that support the upper trunk region.
Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.
A surgical procedure that entails removing all (laminectomy) or part (laminotomy) of selected vertebral lamina to relieve pressure on the SPINAL CORD and/or SPINAL NERVE ROOTS. Vertebral lamina is the thin flattened posterior wall of vertebral arch that forms the vertebral foramen through which pass the spinal cord and nerve roots.
Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY.
Neurons in the SPINAL CORD DORSAL HORN whose cell bodies and processes are confined entirely to the CENTRAL NERVOUS SYSTEM. They receive collateral or direct terminations of dorsal root fibers. They send their axons either directly to ANTERIOR HORN CELLS or to the WHITE MATTER ascending and descending longitudinal fibers.
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
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.
Region of the back including the LUMBAR VERTEBRAE, SACRUM, and nearby structures.
MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.
VERTEBRAE in the region of the lower BACK below the THORACIC VERTEBRAE and above the SACRAL VERTEBRAE.
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.
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.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Broken bones in the vertebral column.
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Repair of the damaged neuron function after SPINAL CORD INJURY or SPINAL CORD DISEASES.
Technique for limiting use, activity, or movement by immobilizing or restraining animal by suspending from hindlimbs or tails. This immobilization is used to simulate some effects of reduced gravity and study weightlessness physiology.
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
Nucleus of the spinal tract of the trigeminal nerve. It is divided cytoarchitectonically into three parts: oralis, caudalis (TRIGEMINAL CAUDAL NUCLEUS), and interpolaris.
An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve.
Elements of limited time intervals, contributing to particular results or situations.
Movement or the ability to move from one place or another. It can refer to humans, vertebrate or invertebrate animals, and microorganisms.
A partial or complete return to the normal or proper physiologic activity of an organ or part following disease or trauma.
X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space.
Adjustment and manipulation of the vertebral column.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
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.
GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis.
Renewal or physiological repair of damaged nerve tissue.
Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
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)
Space between the dura mater and the walls of the vertebral canal.
Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.
A subset of ubiquitin protein ligases that are formed by the association of a SKP DOMAIN PROTEIN, a CULLIN DOMAIN PROTEIN and a F-BOX DOMAIN PROTEIN.
Any operation on the spinal cord. (Stedman, 26th ed)
Either of two extremities of four-footed non-primate land animals. It usually consists of a FEMUR; TIBIA; and FIBULA; tarsals; METATARSALS; and TOES. (From Storer et al., General Zoology, 6th ed, p73)
Tapping fluid from the subarachnoid space in the lumbar region, usually between the third and fourth lumbar vertebrae.
Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction.
Use of electric potential or currents to elicit biological responses.
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Peripheral AFFERENT NEURONS which are sensitive to injuries or pain, usually caused by extreme thermal exposures, mechanical forces, or other noxious stimuli. Their cell bodies reside in the DORSAL ROOT GANGLIA. Their peripheral terminals (NERVE ENDINGS) innervate target tissues and transduce noxious stimuli via axons to the CENTRAL NERVOUS SYSTEM.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
An involuntary movement or exercise of function in a part, excited in response to a stimulus applied to the periphery and transmitted to the brain or spinal cord.
Nerve structures through which impulses are conducted from a peripheral part toward a nerve center.
Application of electric current to the spine for treatment of a variety of conditions involving innervation from the spinal cord.
A surgical operation for the relief of pressure in a body compartment or on a body part. (From Dorland, 28th ed)
The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.
The measurement of an organ in volume, mass, or heaviness.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Neurons which conduct NERVE IMPULSES to the CENTRAL NERVOUS SYSTEM.
Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
Act of eliciting a response from a person or organism through physical contact.
Subdural hematoma of the SPINAL CANAL.
Diseases of the uvea.
Application of electric current in treatment without the generation of perceptible heat. It includes electric stimulation of nerves or muscles, passage of current into the body, or use of interrupted current of low intensity to raise the threshold of the skin to pain.
The physical activity of a human or an animal as a behavioral phenomenon.
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.
A nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity. The sciatic nerve, which is the main continuation of the sacral plexus, is the largest nerve in the body. It has two major branches, the TIBIAL NERVE and the PERONEAL NERVE.
Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS.
An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
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.
The restriction of the MOVEMENT of whole or part of the body by physical means (RESTRAINT, PHYSICAL) or chemically by ANALGESIA, or the use of TRANQUILIZING AGENTS or NEUROMUSCULAR NONDEPOLARIZING AGENTS. It includes experimental protocols used to evaluate the physiologic effects of immobility.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
The resection or removal of the innervation of a muscle or muscle tissue.
A protein that has been shown to function as a calcium-regulated transcription factor as well as a substrate for depolarization-activated CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES. This protein functions to integrate both calcium and cAMP signals.
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.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
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)
Most generally any NEURONS which are not motor or sensory. Interneurons may also refer to neurons whose AXONS remain within a particular brain region in contrast to projection neurons, which have axons projecting to other brain regions.
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord.
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
Compounds capable of relieving pain without the loss of CONSCIOUSNESS.
The lower part of the SPINAL CORD consisting of the lumbar, sacral, and coccygeal nerve roots.
A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.
Five fused VERTEBRAE forming a triangle-shaped structure at the back of the PELVIS. It articulates superiorly with the LUMBAR VERTEBRAE, inferiorly with the COCCYX, and anteriorly with the ILIUM of the PELVIS. The sacrum strengthens and stabilizes the PELVIS.
Refers to animals in the period of time just after birth.
A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.
Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
Common name for the only family (Petromyzontidae) of eellike fish in the order Petromyzontiformes. They are jawless but have a sucking mouth with horny teeth.
A class of nerve fibers as defined by their nerve sheath arrangement. The AXONS of the unmyelinated nerve fibers are small in diameter and usually several are surrounded by a single MYELIN SHEATH. They conduct low-velocity impulses, and represent the majority of peripheral sensory and autonomic fibers, but are also found in the BRAIN and SPINAL CORD.
Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia).
The space between the arachnoid membrane and PIA MATER, filled with CEREBROSPINAL FLUID. It contains large blood vessels that supply the BRAIN and SPINAL CORD.
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
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)
A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.
Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.
A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358)
The observable response an animal makes to any situation.
Disturbances in mental processes related to learning, thinking, reasoning, and judgment.
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Storage-stable glycoprotein blood coagulation factor that can be activated to factor Xa by both the intrinsic and extrinsic pathways. A deficiency of factor X, sometimes called Stuart-Prower factor deficiency, may lead to a systemic coagulation disorder.
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 relationship between the dose of an administered drug and the response of the organism to the drug.
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)
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Amount of stimulation required before the sensation of pain is experienced.
The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.
The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle.
The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM.
Neural tracts connecting one part of the nervous system with another.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
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)
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 syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
A variety of anesthetic methods such as EPIDURAL ANESTHESIA used to control the pain of childbirth.
The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.
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.
A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SATELLITE CELLS, PERINEURONAL of GANGLIA) according to their location. They form the insulating MYELIN SHEATH of axons in the central nervous system.
The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.
An alkaloid found in the seeds of STRYCHNOS NUX-VOMICA. It is a competitive antagonist at glycine receptors and thus a convulsant. It has been used as an analeptic, in the treatment of nonketotic hyperglycinemia and sleep apnea, and as a rat poison.
Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
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.
Injuries to the PERIPHERAL NERVES.
Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Nerve structures through which impulses are conducted from a nerve center toward a peripheral site. Such impulses are conducted via efferent neurons (NEURONS, EFFERENT), such as MOTOR NEURONS, autonomic neurons, and hypophyseal neurons.
Drugs that block nerve conduction when applied locally to nerve tissue in appropriate concentrations. They act on any part of the nervous system and on every type of nerve fiber. In contact with a nerve trunk, these anesthetics can cause both sensory and motor paralysis in the innervated area. Their action is completely reversible. (From Gilman AG, et. al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed) Nearly all local anesthetics act by reducing the tendency of voltage-dependent sodium channels to activate.
Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.
The communication from a NEURON to a target (neuron, muscle, or secretory cell) across a SYNAPSE. In chemical synaptic transmission, the presynaptic neuron releases a NEUROTRANSMITTER that diffuses across the synaptic cleft and binds to specific synaptic receptors, activating them. The activated receptors modulate specific ion channels and/or second-messenger systems in the postsynaptic cell. In electrical synaptic transmission, electrical signals are communicated as an ionic current flow across ELECTRICAL SYNAPSES.
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.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Contractile tissue that produces movement in animals.
Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)
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.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli.
This is one of 2 related pepsinogen systems in humans and is also known as pepsinogen. (The other is PEPSINOGEN C.) This includes isozymogens Pg1-Pg5 (pepsinogens 1-5, group I or products of PGA1-PGA5 genes). This is the main pepsinogen found in urine.
The three membranes that cover the BRAIN and the SPINAL CORD. They are the dura mater, the arachnoid, and the pia mater.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A reflex in which the AFFERENT NEURONS synapse directly on the EFFERENT NEURONS, without any INTERCALATED NEURONS. (Lockard, Desk Reference for Neuroscience, 2nd ed.)
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Electrical responses recorded from nerve, muscle, SENSORY RECEPTOR, or area of the CENTRAL NERVOUS SYSTEM following stimulation. They range from less than a microvolt to several microvolts. The evoked potential can be auditory (EVOKED POTENTIALS, AUDITORY), somatosensory (EVOKED POTENTIALS, SOMATOSENSORY), visual (EVOKED POTENTIALS, VISUAL), or motor (EVOKED POTENTIALS, MOTOR), or other modalities that have been reported.
A widely used local anesthetic agent.
The medial terminal branch of the sciatic nerve. The tibial nerve fibers originate in lumbar and sacral spinal segments (L4 to S2). They supply motor and sensory innervation to parts of the calf and foot.
Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord.
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
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.

Combined 3T diffusion tensor tractography and 1H-MR spectroscopy in motor neuron disease. (1/23)

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Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? (2/23)

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Mitochondrial abnormalities in spinal and bulbar muscular atrophy. (3/23)

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Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. (4/23)

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Autophagy and access: understanding the role of androgen receptor subcellular localization in SBMA. (5/23)

Ridding neurons of toxic misfolded proteins is a critical feature of many neurodegenerative diseases. We have recently reported that lack of access of nuclear polyglutamine-expanded androgen receptor (AR) to the autophagic degradation pathway is a critical point in pathogenesis. When mutant AR is contained within the cytoplasm, it can be degraded by autophagy, resulting in amelioration of its toxic effects, as has been observed in other polyglutamine expansion diseases involving cytoplasmic mutant proteins. However, we have also found that pharmacological induction of autophagy protects SBMA motor neurons from the toxic effects of even nuclear localized mutant AR, albeit without affecting mutant nuclear AR levels. Thus, we have further investigated the mechanism by which autophagy elicits therapeutic benefit in cell culture. We found that endogenous autophagy only slightly alters nuclear mutant AR aggregation compared to substantial effects on cytoplasmic AR aggregation. Interestingly, pharmacological activation of mTOR-dependent autophagy did not significantly alter nuclear AR aggregation, whereas we observed that it protects SBMA motor neurons. Our findings indicate that therapeutic intervention to induce autophagy represents a potential potent benefit for SBMA, and that it likely does so by protecting SBMA motor neurons independent of a direct effect on mutant AR.  (+info)

Clinical features of spinal and bulbar muscular atrophy. (6/23)

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B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (7/23)

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Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy. (8/23)

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Kennedys disease is a neurodegenerative disease caused by a gene mutation which encodes the androgen receptor. The signs and symptoms are clearly visible among patients. However with a prevalence of only 1 in 30.000 patients worldwide the disease is classified as rare. Research to date has shown no cure for ... read more this trinucleotide (CAG) repeat disorder which attacks the motor neurons and muscles. Small molecule drugs and biologics have failed to be beneficial and antisense technology should make a difference. Basically this approach offers new opportunities for neurodegenerative disorders especially Kennedy disease. In co-operation with Utrecht University, University of Glasgow and Prosensa we want to look at RNA modulation for Kennedys disease. The purpose of this research project is to synthesize and investigate several single stranded antisense oligonucleotides, with the antisense mRNA sequence 3 UUG-(CUGX)-CAG 5, where X stands for 10, 20, 30, 40, 50 or 60 CAG repeats (normally: ...
Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron disease for which there is currently no treatment. It is caused by a mutation in the androgen receptor that results in a polyglutamine repeat expansion. The role of exercise in motor neuron disease research is debated. Although SBMA is believed to be primarily a neuronopathy, the potential effect of aberrant androgen receptor activity on muscle leads exercise to be of uncertain utility in this population. Our objective is to examine the safety and efficacy of exercise regimens in Kennedy s disease.. Study Population: We aim to enroll 80 men with genetically confirmed Kennedy s disease.. Design: This will be a randomized, evaluator blinded, trial with 25 subjects in each exercise arm. Following informed consent, the subjects will undergo an initial medical and physical evaluations followed by a series of neurological tests and blood work over a two-day outpatient visit at the ...
Kennedys Disease (KD) is a rare neuromuscular disease and a form of adult-onset Spinal Muscular Atrophy (SMA) that is a result of mutations in the Androgen Receptor gene on the X chromosome. There are small increases in one specific region of the gene. The larger the increases, the earlier the onset and the more pronounced the symptoms.. KD is also known as Spinal Bulbar Muscular Atrophy (SBMA). It is an inherited chromosomal X-linked recessive disease that affects the spinal and bulbar neurons causing muscle wasting (atrophy) predominantly in the legs, arms, face and throat. It is estimated that one in 40,000 people worldwide have KD.. ...
TY - JOUR. T1 - Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy. AU - Iida, Madoka. AU - Sahashi, Kentaro. AU - Kondo, Naohide. AU - Nakatsuji, Hideaki. AU - Tohnai, Genki. AU - Tsutsumi, Yutaka. AU - Noda, Seiya. AU - Murakami, Ayuka. AU - Onodera, Kazunari. AU - Okada, Yohei. AU - Nakatochi, Masahiro. AU - Tsukagoshi Okabe, Yuka. AU - Shimizu, Shinobu. AU - Mizuno, Masaaki. AU - Adachi, Hiroaki. AU - Okano, Hideyuki. AU - Sobue, Gen. AU - Katsuno, Masahisa. PY - 2019/12/1. Y1 - 2019/12/1. N2 - Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. Here, we perform a comprehensive analysis of signaling pathways in a mouse model of SBMA (AR-97Q mice) utilizing a phosphoprotein assay. We measure the levels of 17 phosphorylated proteins in spinal cord and skeletal muscle of AR-97Q mice at three stages. The level of phosphorylated Src (p-Src) is ...
The views and opinions expressed on this blog are those strictly of the author. Information provided should not be considered medical advice nor the advice of a trained medical professional or physical therapist. The author has made a reasonable effort to ensure that all information provided is accurate, but as with any document, errors might occur. It is entirely the responsibility of the reader to determine the validity of any information provided. Any decisions made based upon the information provided are entirely the readers responsibility. The author and the Kennedys Disease Association do not accept any liability for any direct, indirect, special or consequential damages, or damages of any kind resulting from any cause through the use of any information obtained either directly or indirectly from this blog. ...
TY - JOUR. T1 - Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). AU - Katsuno, Masahisa. AU - Tanaka, Fumiaki. AU - Adachi, Hiroaki. AU - Banno, Haruhiko. AU - Suzuki, Keisuke. AU - Watanabe, Hirohisa. AU - Sobue, Gen. N1 - Funding Information: This work was supported by a grant from Kennedy Disease Association , a Center-of-Excellence (COE) grant, a Grant-in-Aid for Scientific Research on Innovated Areas Foundation of Synapse and Neurocircuit Pathology, and Grant-in-Aids from Ministry of Education, Culture, Sports, Science, and Technology of Japan ; grants from the Ministry of Health, Labor and Welfare of Japan ; and Core Research for Evolutional Science and Technology (CREST) from the Japan Science and Technology Agency (JST) . There were no other funding sources, and the investigators had sole discretion over study design, collection, analysis, and interpretation of data, writing of the report, and decision to submit it for publication.. PY - 2012/12. Y1 - ...
TY - JOUR. T1 - A functional scale for spinal and bulbar muscular atrophy. T2 - Cross-sectional and longitudinal study. AU - Hashizume, Atsushi. AU - Katsuno, Masahisa. AU - Suzuki, Keisuke. AU - Banno, Haruhiko. AU - Suga, Noriaki. AU - Mano, Tomoo. AU - Araki, Amane. AU - Hijikata, Yasuhiro. AU - Grunseich, Christopher. AU - Kokkinis, Angela. AU - Hirakawa, Akihiro. AU - Watanabe, Hirohisa. AU - Yamamoto, Masahiko. AU - Fischbeck, Kenneth H.. AU - Sobue, Gen. N1 - Funding Information: Dr. Katsuno is supported by a Grant-in-Aid for Scientific Research on Innovated Areas Foundation of Synapse and Neurocircuit Pathology from MEXT, Japan , ( 22110005 ); KAKENHI grants from MEXT/JSPS, Japan , (No. 22110005 , 26293206 , 26670440 , and 26670439 ); and Core Research for Evolutional Science and Technology (CREST) from the Japan Science and Technology Agency (JST) ; and a grant from the Daiichi Sankyo Foundation of Life Science . Funding Information: Dr. Sobue is supported by KAKENHI grants from ...
Kennedys disease is a rare genetic neurodegenerative disorder that affects the motor neurons (cells that are important for normal function of the brain and spinal cord). It is a progressive disorder that leads to increasing severity of motor dysfunction and subsequent deterioration of muscle strength, muscle tone, and motor coordination. It was first described by the American physician William R. Kennedy in 1966.
The views and opinions expressed on this blog are those strictly of the author. Information provided should not be considered medical advice nor the advice of a trained medical professional or physical therapist. The author has made a reasonable effort to ensure that all information provided is accurate, but as with any document, errors might occur. It is entirely the responsibility of the reader to determine the validity of any information provided. Any decisions made based upon the information provided are entirely the readers responsibility. The author and the Kennedys Disease Association do not accept any liability for any direct, indirect, special or consequential damages, or damages of any kind resulting from any cause through the use of any information obtained either directly or indirectly from this blog. ...
Reelz cable channel on Tuesday announced his casting in the role of the US Senator for the four-hour project, a follow-up to the miniseries The Kennedys.
rad/s3. a. Calculate the angular acceleration as a function of time. b. What is the initial value of the angular velocity? c. Calculate the instantaneous
TY - JOUR. T1 - ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. AU - Yang, Zhiming. AU - Chang, Yu Jia. AU - Yu, I. Chen. AU - Yeh, Shuyuan. AU - Wu, Cheng Chia. AU - Miyamoto, Hiroshi. AU - Merry, Diane E.. AU - Sobue, Gen. AU - Chen, Lu Min. AU - Chang, Shu Shi. AU - Chang, Chawnshang. N1 - Funding Information: We thank K. Wolf for help in editing the manuscript. This work was supported by US National Institutes of Health grant DK067686 and the George Whipple Professorship Endowment. Copyright: Copyright 2009 Elsevier B.V., All rights reserved.. PY - 2007/3. Y1 - 2007/3. N2 - Motor neuron degeneration resulting from the aggregation of the androgen receptor with an expanded polyglutamine tract (AR-polyQ) has been linked to the development of spinal and bulbar muscular atrophy (SBMA or Kennedy disease). Here we report that adding 5-hydroxy-1,7-bis(3,4-dimethoxyphenyl)-1,4,6- heptatrien-3-one (ASC-J9) disrupts the interaction between AR and ...
Fingerprint Dive into the research topics of Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene. Together they form a unique fingerprint. ...
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When Jackie Kennedy (then known as Jacqueline Bouvier, later known as Jackie O.) first met John F. Kennedy Jr. and his big, rambunctious family, she was coming to the table with a world of reservations, having broken off a previous engagement to John Husted when the constraints of that expected family life felt too overwhelming. […]
I posted a picture of Kennedy, kat (his mom), Elton and me under the photo section and Joyce had asked about Kennedys MVD. I would like to say thank you to all of those that have offered help and guidence for my friend here at Cavalier Talk but I want to say just how helpful it was that I wrote some of this down and how that has led to where he is now. Just a recap, Kennedys main problem was that he would wake up scared and not able to breath. His vet said he had grade 3 and the MVD was
Carly Simon was surprised to learn that her pal, Jackie Kennedy Onassis, was willing to open up about some of the heartaches she endured with her first husband, President John F. Kennedy.
Former First Lady of the United States, late Jacqueline Kennedy Onnasis, was so worried about her first daughter Caroline Kennedy s weight.
Buddy Guy, Dustin Hoffman, David Letterman, ballerina Natalia Makarova and rockers Led Zeppelin have been named recipients of this years Kennedy Center Honors.
In the Washington Post, Sarah Kaufman reports on David Hallbergs interview with Kennedy Center director Michael Kaiser on Saturday, September 7, 2013 in the Eisenhower Theatre ...
ALTER BRIDGE and Slash vocalist Myles Kennedy says that his 2008 studio jam with the instrumental members of LED ZEPPELIN was "definitely one of th...
You know the game has forever changed when Patrick Kennedy volunteers to leave the stage. Lee Siegel on the sea change in how personal our politics have become.
Merrit Kennedy is a reporter for The Two-Way, NPR's breaking news blog. She covers a broad range of issues, from the latest developments out of the
ЛОНДОН - Мы знаем, как искоренить полиомиелит. Действующая с 1980-х годов международная программа вакцинации под руководством Всемирной организации здравоохранения привела к почти полному исчезновению вируса полиомиелита. Болезнь, которая ежегодно убивала или парализовала полмиллиона людей на земле, поражает сегодня только несколько сот человек во всем мире.. Препятствие, стоящее сегодня на пути уничтожения вируса, не связано с медицинскими или техническими ограничениями, а вызвано политическим сопротивлением вакцинации. Действительно, ...
As teenagers, we all seem to face the same, irrevocable problem. We need money. Whether you are saving up for a new pair of Roshes, scavenging for enough cash to order
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Comprehensive outpatient clinic providing multidisciplinary consultation, counseling, rehabilitation, treatment and case management/referral services for people affected by neuromuscular disorders, such as ALS (Lou Gehrigs disease),Spinal Muscular Atrophy, Inclusion Body Myositis, Myotonic Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Hereditary Neuropathy, Friedreichs Ataxia, Myasthenia Gravis, Spinal/Bulbar Muscular Atrophy (Kennedys Disease), Charcot-Marie Tooth Disease, Dermatomyositis and Polymyositis. Services provided by Board-Certified Neurologist and Clinical Neurophysiologist Gregory P. Hanes, MD, and Sarasota Memorials team of neuroscience professionals ...
Berberine, a plant-derived compound, was seen to clear motor neurons of the toxic protein clumps found in adults with spinal and bulbar muscular atrophy.
NEURODEGENERATIVE DISEASE. Purging X-tra protein aggregates. Adenylyl cyclase activating polypeptide modifies androgen receptor phosphorylation and spinal and bulbar muscular atrophy pathogenesis.. AUTOIMMUNITY. Toning down T cell signaling to treat autoimmunity. A novel inhibitor of interactions between signaling proteins in T cells demonstrates promising preventive and therapeutic effects in several models of autoimmune disease. ...
In January 2013, the Strikeforce organization was closed by its parent company Zuffa. A list of fighters scheduled to be brought over to the Ultimate Fighting Championship was released in mid-January and Kennedy was one of the fighters listed.[22] Kennedy faced Roger Gracie on July 6, 2013, at UFC 162, he defeated Gracie via unanimous decision after defending Gracies submission attempts and standing up with Gracie, out striking him.[23] Kennedy was expected to face Lyoto Machida on November 6, 2013, at UFC Fight For The Troops 3.[24] However, Machida was pulled from the bout in favor of a matchup with Mark Muñoz on October 26, 2013, at UFC Fight Night 30, after Muñozs original opponent, Michael Bisping was forced out of their bout with an injury.[25] Kennedy instead faced Rafael Natal in the event headliner.[26] He won the fight via knockout in the first round. The win also earned him his first Knockout of the Night bonus award.[27] For his third fight with the promotion, Kennedy faced ...
Listen to 2 Bad by Dom Kennedy Dom Kennedy releases the first official single from his upcoming album, By Dom Kennedy which drops on June 2nd. The record
Published in National Review Online: Critical Condition, August 31, 2009. Senator Ted Kennedy was both respected and liked by colleagues on both sides of the aisle during his remarkable 47 years in the Senate.. While he always was firm in his liberal views and I seldom agreed with him, Senator Kennedy did listen to his Republican colleagues and worked to forge compromises. That bipartisan spirit has been markedly missing during his absence from the Senate this year. The health-reform legislation making its way through Congress is rigid and aggressively liberal, without any evidence of bipartisanship, and it is rightly facing a firestorm of opposition.. Senator Robert Byrd has asked that the bill be named after Senator Kennedy in hopes that will revitalize its chances of passage. But I think it is too late. The American people understand the huge impact this legislation would have on the lives of 300 million Americans, and they are not going to be swayed by sentiment.. Shortly before Senator ...
Legendas The Kennedys Life Sentences - Legendas portuguese (br). The.Kennedys.Part.5.DSR.XviD-SYS, Minissérie em 8 capítulos. Tradução: Equipe Musk3teers. 1CD (pob). Enviada 2011-04-21, baixado 591x.
Duncan Kennedy News. Find breaking news, commentary, and archival information about Duncan Kennedy From The tribunedigital-chicagotribune
When we got back to her individual room, we undressed her top so monitors could be placed. The radiology doctor explained the procedure and answered all of my questions including my question about contrast. I had read that it is usually used in MRIs looking for tethered cord. She said yes, it would likely be used. She explained the IV medicine and its effects and also offered us Versid (I do not know how to spell medicines!) which was an oral relaxation medicine. I was hesitant to give her extra medication but when I considered how active Kennedy is, I decided it might be best to give her the Versid to help her relax when the IV is placed. My decision was a good one and I do recommend that to other families considering this option. I understand it may also be an option before her surgery. She calmed to the point that she was just laying in my arms but awake and content. She did not fight the IV placement. She did however, fight the IV medication/sedation. She fought hard but Mommy was kind of ...
Kennedy family said in a statement, Weve lost the irreplaceable center of our family and joyous light in our lives, but the inspiration of his faith, optimism, and perseverance will live on in our hearts forever. He loved this country and devoted his life to serving it ...
Lesa France Kennedy, CEO (and vice-Chair of the board) ofINTERNATIONAL SPEEDWAY INC, a company that owns racetracks and runs NASCAR races. She was named the
Every city has its celebrated malcontents, and among San Franciscos finest were the Dead Kennedys. Led by the articulately confrontational…
Dr. Susan M Kennedy, DO, rated 4.7/5 by patients. 59 reviews, Phone number & practice locations, Family Doctor in West Des Moines, IA.
The Tierney-Kennedy relationship was fraught with electricity. Both were obviously thinking of marriage. It was Kennedy who broke the bad news to her.
Professor Fiona Powrie, Director of the Kennedy Institute has been awarded an honorary degree of Doctor of Science from the University of Bath.
The cheapest way to get from Kennedy to Washington costs only $41, and the quickest way takes just 5 hours! Find the travel option that best suits you!
Obviously, the political world is focused on the health of Ted Kennedy, and not the potential political implications of his diagnosis with a malignant brain tumor.
http://www.dallasnews.com/sharedcont...m.37afff4.html My friends and I think this falls under the category of Bizarre and Off-beat News. First of all, there is a photo from 1963 of the room where Kennedy was treated and which cannot be touched or seen by the public since the government took possession of it. From the article, in case it is archived soon: QUOTE : A piece of JFK assassination history now lies buried in the most unlikely of places: a former limestone quarry in
Upon entering office in 1961, President John F. Kennedy was tasked with the challenge of maintaining the upper hand in the United States battle...
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KPDS KASIM sorularda, cümlede boş bırakılan yerlere uygun düşen kelime veya ifadeyi bulunuz. 1. A fresh look at the final months of the presidency of John F. Kennedy ---- that a second Kennedy
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TY - JOUR. T1 - Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy. AU - Dossena, Marta. AU - Bedini, Gloria. AU - Rusmini, Paola. AU - Giorgetti, Elisa. AU - Canazza, Alessandra. AU - Tosetti, Valentina. AU - Salsano, Ettore. AU - Sagnelli, Anna. AU - Mariotti, Caterina. AU - Gellera, Cinzia. AU - Navone, Stefania Elena. AU - Marfia, Giovanni. AU - Alessandri, Giulio. AU - Corsi, Fabio. AU - Parati, Eugenio Agostino. AU - Pareyson, Davide. AU - Poletti, Angelo. PY - 2014/11/13. Y1 - 2014/11/13. N2 - Spinal and bulbar muscular atrophy (SBMA) or Kennedys disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this protein. Typical markers of SBMA disease are ARpolyQ intranuclear inclusions. These are generated after the ARpolyQ binds to its endogenous ligands, which promotes AR release from chaperones, activation and ...
Background on Disease Markers The single nucleotide polymorphism (SNP), 137852571, that is being examined in this experiment is linked with Androgen Insensitivity Syndrome and Kennedy Spinal and Bulbar Muscular Atrophy. Androgen Insensitivity Syndrome occurs when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some or all of the physical traits of a female, but the genetic makeup of a male. The mutation on the X chromosome makes the body unable to respond to the hormones that produce a male appearance. Kennedy Spinal and Bulbar Muscular Atrophy is a debilitating neurodegenerative disease resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. The SNP is located on the X chromosome and affects the gene AR, the gene is inherited in an x-linked recessive manner therefore only males can be fully affected by the mutation and females ...
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Lisa bessette photos. carolyn bessette driver s license, carolyn bessette and john f kennedyautopsy reports, carolyn bessette kennedy autopsy photos, bessett hound. Autopsyfiles.org is a website dedicated in providing autopsy reports disclosing. John F. Kennedy Jr., his wife and his sister-in-law died instantly when their plane, plummeting at nearly 60 mph, slammed into the waters off Marthas. Carolyn bessette autopsy photos Carolyn bessette kennedy death photos. lisa bessette photos, carolyn bessette kennedy morgue photos, aaliyah autopsy photoscarolyn bessette autopsylisa left eye lopaz. Carolyn bessette autopsy : Carolyn bessette autopsy picture. carolyn bessette kennedy wedding dress photos, carolyn bessette images, carolyn bessette. Bessett autopsy. carolyn bessette photo autopsy, carolyn bessette death photo, carolyn bessette kennedy death photos, carolyn bessette kennedy austopsy, carolyn ...
Perhaps the most judicious appreciation of Kennedy has come from a man who might have been expected to have been a critic, the socialist Michael Harrington, who said in 1973: The claim I make for his historic significance is both restrained and major. Within the limits of the possible, as defined by his own pragmatic liberalism and the reactionary congressional power arrayed against it, he developed to a surprising degree. How far he would have gone, we will never know. (Robert Kennedy, who survived his brother by a little less than five years, spent them in making the most extraordinary pilgrimage a practicing politician has ever traveled. What if John Kennedy had had those years too?) John F. Kennedy … must be judged not as a shining knight nor as a failed hero but as a man of his time and place.… He was not, of course, a radical and it is silly to accuse him, as some of his disillusioned followers have, of not having carried out basic transformations of the system. That was never his ...
Senator Edward Kennedys diagnosis of brain cancer, in May 2008, touched off an extraordinary medical battle-and a veiled rivalry over who might succeed him as symbolic head of Americas fabled dynasty. Would it be R.F.K.s oldest son, Joe? J.F.K.s daughter, Caroline? Or the senators second wife, Victoria? An excerpt from the new book Ted Kennedy: The Dream That Never Died reveals the familys shifting dynamics, the confrontation that led Caroline to drop her political bid, and the triumphant, grueling winter of the last Kennedy brother.
Tucker Carlson, took his life and his career in his hands on live TV on FoxNews this week, to cover a high-money artificially taboo topic, just as he is set to advance from the Queens seat, formerly Megyn Kellys time slot, to the Kings seat, formerly Bill OReillys time slot. I hope you know what youre doing, Tucker, because the Murdochs have been (figuratively) lopping off heads, ratings be damned, at the behest of sponsors, many of whom (pharmaceuticals) are known to have no qualms about knowingly (and literally) killing peoples children via vaccines. So the vaccine industry would certainly have no qualms about literally coming after your head, too. So Carlson interviewed Robert F. Kennedy Jr. on Thursday (04/22/2017) about his vaccine safety campaign and research at the World Mercury Project, and gave him the floor. What Mr. Kennedy had to say is of worldwide extreme importance, so please listen to him, although it is extremely difficult to listen to him, owing to Mr. Kennedys voice ...
Conservative Fox News host Tucker Carlson had Robert F. Kennedy Jr. on his show last night (7/10/17). Acknowledging that Kennedy is a liberal democrat Carlson
In truth a family is what you make it. It is made strong, not by number of heads counted at the dinner table, but by the rituals you help family members create, by the memories you share, by the commitment of time, caring, and love you show to one another, and by the hopes for the future you have as individuals and as a unit.~ Marge Kennedy
By Laura Hayes Last week, I respectfully posed 3 questions to Mr. Kennedy in the comments section of an AoA article, as he continues to be an active voice across the country speaking about mercury in vaccines, corruption at the...
Connect with Dr. Marc Kennedy, Gastroenterology, Racine, WI. Video chat, send a message, ask a text question, or make a virtual appointment on the doctors Virtual Practice on HealthTap.
Entertainment website TMZ got a surprising old photo that looks like John F. Kennedy (JKF) on a boat with a bunch of naked women probably taken in the mid-1950s. Very interesting, right!! But sadly to say the scandalous picture is a FAKE ...
By Laura Hayes Last week, I respectfully posed 3 questions to Mr. Kennedy in the comments section of an AoA article, as he continues to be an active voice across the country speaking about mercury in vaccines, corruption at the...
Nov. 18 - Caroline Kennedy visits the Japanese Foreign Ministry for first official meetings with Japanese diplomats as newly appointed U.S. ambassador to Japan. Rough Cut (no reporter narration).
Walk in the footsteps of Americas space pioneers on the grounds of the Kennedy Space Center. Enjoy professional service with comfortable roundtrip
Visit Healthgrades for information on Dr. Willard Kennedy, MD Find Phone & Address information, medical practice history, affiliated hospitals and more.
CAIN: Issues: Violence: Prof. Liam Kennedy (2001) They Shoot Children Dont They?: An Analysis of the Age and Gender of Victims of Paramilitary
December 15, 2008 Caroline Kennedy wants Senate seat, sources say (CNN) -- Caroline Kennedy, the 51-year-old daughter of President John F. Kennedy, has made it clear to high-level Democrats that she wants to be the next senator from New York, a source close to Kennedy has told CNN's John King. ...
Dead Kennedys - Holiday In Cambodia - Vinyl 12 - 1980 - UK - Reissue günstig online kaufen bei hhv.de - Versandkostenfrei bestellen ab 80€!
Celebrities from the Hudson Valley and beyond walked the red carpet at a Monday night gala for the Robert F. Kennedy Center for Justice and
The prognosis and treatment for Edward Kennedy are uncertain, doctors say. The 76-year-old senator was diagnosed today with brain tumor known as a malignant glioma-the same diagnosis some 9,000... Politics News Summaries. | Newser
Find historical values for graded 1898 Cameo Pepsin A. F. Kennedy #70 baseball cards by viewing prices sold on eBay and major auctions.
HEFNER: Well, I think it was, you know, as with Lenny, you know, the combination of the insights and the willingness to break the boundaries. I remember, and of course his act didnt really turn radical until the early 70s, but in 1961, he was playing the Playboy Club with his partner, Jack Burns, and I took Joe Kennedy -- we had had dinner together in Chicago and I took Joe Kennedy up to the Playboy Club in Chicago to see the show, and Burns and Carlin were on stage. They did a little rift on JFK and Joe Kennedy was not amused. KING: No, I dont imagine he would be. You, I look forward to seeing you soon. I wish we had more time but I thank you very much for your memories of George Carlin. Bill Maher, how will he be remembered ...
Date: Tue, 21 May 1996 21:06:33 -0500 From: Colin P. A. Kennedy ,[email protected], Message-Id: ,[email protected], To: [email protected], [email protected] Subject: Re: Web neurons There is a reason for CGI, you know ...
Offers new methods of working across traditional boundaries to jointly identify, understand, and address emerging social problems ...
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BBBs Business Profile for Kennedy Home Inspection, LLC, Business Reviews and Ratings for Kennedy Home Inspection, LLC in Cumming, GA.
Dawn wrote: Interesting thread too. But the Kennedys DID NOT kill MM. She was murdered to be sure. And it was to balme it on the Kennedys. Was not a suici...
FRAGMENTO. Fluckieger en 1884 fue el primero en describir la asociaci n entre da o hep tico y alteraciones en la funci n pulmonar al describir un caso caracterizado por cianosis, dedos en palillo de tambor y cirrosis hep tica. El t rmino de s ndrome hepatopulmonar (SHP), fue acu ado en 1977 por Kennedy y Knudson.1 ...
"The lateral corticospinal tract and spinal ventral horn in X-linked recessive spinal and bulbar muscular atrophy: a ... multiple system atrophy and X-linked recessive bulbospinal neuronopathy, with special reference to the loss of small neurons in ... Multiple system atrophy (MSA), has also been linked to the lateral grey column. MSA has been shown to reduce the cell count in ... Muscular atrophy has also been shown to have an effect on neurons of the anterior column. A large loss of large alpha motor ...
Bulbospinal polio. Approximately 19 percent of all paralytic polio cases have both bulbar and spinal symptoms; this subtype is ... the muscles no longer receive signals from the brain or spinal cord; without nerve stimulation, the muscles atrophy, becoming ... External links. .mw-parser-output .portal{border:solid #aaa 1px;padding:0}.mw-parser-output .portal.tleft{margin:0.5em 1em 0.5 ... This leads to the development of paralytic poliomyelitis, the various forms of which (spinal, bulbar, and bulbospinal) vary ...
Vaginal and clitoral atrophy and dryness affects up to 50%-60% of postmenopausal women. Testosterone levels in men fall as they ... They assert that since the front wall of the vagina is inextricably linked with the internal parts of the clitoris, stimulating ... Although sexual function and sexuality after spinal cord injury is very often impacted, this injury does not deprive one of ... Di Marino, Vincent (2014). Anatomic Study of the Clitoris and the Bulbo-Clitoral Organ. Springer. p. 81. ISBN 978-3319048949. ...
Kennedys Disease (Bulbospinal Muscular Atrophy, X-Linked Spinal and Bulbar Muscular Atrophy). Kennedys disease is a rare ... Spinal bulbar muscular atrophy or SBMA. Symptoms tend to develop most commonly in middle age, but it is possible for them to ... Kennedys disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for ... producing the protein known as AR (androgen receptor). X-linked disorders are related to the X chromosome. Normally, a person ...
z linked bulbo spinal atrophy, c linked bulbo spinal atrophy, d linked bulbo spinal atrophy, s linked bulbo spinal atrophy, x ... zx linked bulbo spinal atrophy, xz linked bulbo spinal atrophy, cx linked bulbo spinal atrophy, xc linked bulbo spinal atrophy ... dx linked bulbo spinal atrophy, xd linked bulbo spinal atrophy, sx linked bulbo spinal atrophy, xs linked bulbo spinal atrophy ... x l inked bulbo spinal atrophy, x li nked bulbo spinal atrophy, x lin ked bulbo spinal atrophy, x link ed bulbo spinal atrophy ...
z linked bulbo spinal atrophies, c linked bulbo spinal atrophies, d linked bulbo spinal atrophies, s linked bulbo spinal ... x linked bulbo spinal atr ophies, x linked bulbo spinal atroph ies, x linked bulbo spinal atrophi es, x linked bulbo spinal ... zx linked bulbo spinal atrophies, xz linked bulbo spinal atrophies, cx linked bulbo spinal atrophies, xc linked bulbo spinal ... dx linked bulbo spinal atrophies, xd linked bulbo spinal atrophies, sx linked bulbo spinal atrophies, xs linked bulbo spinal ...
"Bulbo-Spinal Atrophy, X-Linked" by people in this website by year, and whether "Bulbo-Spinal Atrophy, X-Linked" was a major or ... Bulbo-Spinal Atrophy, X-Linked*Bulbo-Spinal Atrophy, X-Linked. *Atrophies, X-Linked Bulbo-Spinal ... "Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Bulbo-Spinal Atrophy, X-Linked" by people in Profiles. ...
Bulbo-Spinal Atrophy, X-Linked. *Kennedy Disease. *Other: No intervention, observational. Observational. *Rigshospitalet, ... High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy. *Spinal and Bulbar Muscular Atrophy ... and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy. *Spinal and Bulbar Muscular Atrophy ... Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy. *Spinobulbar Muscular Atrophy ...
Atrophy. Muscular Atrophy. Motor Neuron Disease. Muscular Disorders, Atrophic. Bulbo-Spinal Atrophy, X-Linked. Pathological ... Spinal Bulbar Muscular Atrophy. Spinal and Bulbar Muscular Atrophy. SBMA. Motor Neuron Disease. ... Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron ... Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968 Jul;18(7): ...
The XBSMA meaning is X-linked bulbospinal muscular atrophy. The definition of XBSMA by AcronymAndSlang.com ... XBSN - X-Linked Recessive Bulbospinal Neuronopathy. *DMD - X-linked muscular dystrophy. *X-BSMA - X-linked bulbar and spinal ... "X-linked bulbospinal muscular atrophy". Q: A: How to abbreviate "X-linked bulbospinal muscular atrophy"?. "X-linked bulbospinal ... What is the abbreviation for X-linked bulbospinal muscular atrophy?. X-linked bulbospinal muscular atrophy can be abbreviated ...
Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that ... These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). ... Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle ... Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10;59(5):770 ...
The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig- ... Bulbo-spinal Atrophy, X-linked. An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene ... In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are ... Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ...
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968;18(7):671- ... Decremental responses to repetitive nerve stimulation in x-linked bulbospinal muscular atrophy. J Clin Neurol. 2013;9(1):32-35. ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352(6330):77-79.. View this ... Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat ...
1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18:671-680 ... 2002) Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59:770-772. ... 1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79. ... 2005) Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 57:687-694. ...
X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of ... X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of ... Spinal and bulbar muscular atrophy (SBMA), also known as Kennedys disease, is a rare, ... Spinal and bulbar muscular atrophy (SBMA), also known as Kennedys disease, is a rare, ...
X-linked bulbospinal muscular atrophy (kennedy disease) 60 genetic heterogeneity mutations of different genes cause similar ...
... Spinal muscular atrophyClassification & external resources ICD-10 G12. ICD-9 335.0-335.1 OMIM 253300 ... Hereditary Bulbo-Spinal SMA Kennedys disease (X linked, Androgen receptor) * Spinal Muscular Atrophy with Respiratory Distress ... The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and ...
Keywords: Motor neuron disease, bulbo-spinal atrophy, X-Linked, spironolactone, receptors, androgen ... Abstract: Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked ... spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).. ... Select this link to jump to content * Administrator log in Shibboleth log in ...
Bulbo-Spinal Muscular Atrophy (Kennedys Syndrome; X-linked). BSMA. Bank Security Management Association. ... Want to thank TFD for its existence? Tell a friend about us, add a link to this page, or visit the webmasters page for free ...
Expression of X-linked bulbospinal muscular atrophy (Kennedy Disease) in two homozygous females. Neurology 59: 770-772, 2002. ... Propriospinal neurons contribute to bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. J ... Contribution of commissural projections to bulbospinal activation of locomotion in the in vitro neonatal rat spinal cord. J. ... Propriospinal neurons are sufficient for bulbospinal transmission of the locomotor command signal in the neonatal rat spinal ...
Bulbospinal Muscular Atrophy, X-linked. *Kennedy Disease. *Spinal and Bulbar Muscular Atrophy (SBMA) ... 1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex -linked recessive trait. Neurology 18:671- ... 2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264 ... 1999; Updated July 2014) Spinal and Bulbar Muscular Atrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ...
208000006269 X-Linked Bulbo-Spinal Atrophy Diseases 0 claims description 3 * 125000005418 aryl aryl group Chemical group 0 ... 206010068597 Bulbospinal muscular atrophy congenital Diseases 0 claims description 3 * 201000001971 Huntingtons diseases ...
Adult Onset X-Linked SMA, also known as Kennedys Syndrome or Bulbo-Spinal Muscular Atrophy, occurs only in men. Facial and ... Spinal Muscular Atrophy. by Lenny Parracino , Date Released : 17 Dec 2005 0 comments Print ... Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is a group of inherited and ... Would you please be able to give me some information on the disease spinal muscular atrophy? ...
Severity of X-linked recessive bulbospinal neuronopathy correlates with the size of the tandem CAG repeat in androgen receptor ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-9. doi:10.1038/352077a0. ... Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006;129:1446-55. doi: ... Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008;264: ...
Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. The ... Kennedys syndrome - bulbo-spinal muscular atrophy]. SZABÓ Antal, MECHLER Ferenc. [ ... such as gynaecomastia or testicular atrophy. The electrophysiological examinations are the keypoint to the diagnosis. ...
muscular atrophy synonyms, muscular atrophy pronunciation, muscular atrophy translation, English dictionary definition of ... muscular atrophy. Translations. English: muscular atrophy n Muskelatrophie f, Muskelschwund m. German / Deutsch: Muskelatrophie ... 4,5) Specific genetic tests are available for X-linked bulbospinal neuronopathy (Kennedys disease), which causes a slowly ... Spinal muscular atrophy (SMA) has plagued humanity for generations.. Facts about spinal muscular atrophy ...
bulbospinal atrophy; X-linked disease from CAG repeat expansion encoding androgen receptor apparently; leads to distal limb ... juvenile spinal muscular atrophy, hereditary or sporadic, affects proximal limbs, gradually progressive. KULCHITSKYS CELLS. ... Related Links · Eponym Books on Amazon.com. ARTICLE TOOLS. · Eponyms section. · Articles by Andrew J. Yee, M.D.. · Add to my ... criteria for linking a specific microorganism to a disease 1. organism must be found in lesion of disease; 2. organism can be ...
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968;18(7):671- ... Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy. A ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352(6330):77-79.. View this ... Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat ...
"The lateral corticospinal tract and spinal ventral horn in X-linked recessive spinal and bulbar muscular atrophy: a ... multiple system atrophy and X-linked recessive bulbospinal neuronopathy, with special reference to the loss of small neurons in ... Multiple system atrophy (MSA), has also been linked to the lateral grey column. MSA has been shown to reduce the cell count in ... Muscular atrophy has also been shown to have an effect on neurons of the anterior column. A large loss of large alpha motor ...
DNA testing for X-linked bulbospinal muscular atrophy was negative, as were antibody titers to HIV-1 and 2, acetylcholine ... Spinal fluid was acellular with normal glucose (68 mg/dl) and protein (21 mg/dl). Gadolinium-enhanced MRI of the brain and ... Unilateral hypoglossal nerve atrophy as a late complication of radiation therapy of head and neck carcinoma: a report of four ... There was diffuse atrophy of the anterior cervical musculature, more prominent on the left, with continuous undulating ...
Hanemann CO, Sperfeld AD, Karitzky J, Schreiber H, Brummer D, Haussler J & Ludolph AC 2002 X-linked bulbospinal neuronopathy ... RudnikSchoneborn S 1997 Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region ANNALS OF ... Hanemann CO, Sperfeld AD, Karitzky J, Schreiber H, Brummer D, Haussler J & Ludolph AC 2002 X-linked bulbospinal neuronopathy ... Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC & Hanemann CO 2002 X-linked bulbospinal neuronopathy ...
Kennedys disease, also known as bulbospinal muscular atrophy, is a rare, X -linked recessive neurodegenerative disorder ... Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. ... To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy ( ... The patient was suspicious of AIS family history and the pedigree was made to analyze her family which was possibly X-linked ...
Bulbo-spinal atrophy X-linked, Bulbospinal amyotrophy X-linked, Bullous dystrophy hereditary macular type, Bullous erythroderma ... Spinal muscular atrophy type 2, Spinal muscular atrophy type 3, Spinal muscular atrophy type 4, Spinal muscular atrophy with ... Spinal muscular atrophy, Spinal muscular atrophy 1, Spinal muscular atrophy Ryukyuan type, Spinal muscular atrophy type 1 with ... Optic atrophy 1, Optic atrophy 1 and deafness, Optic atrophy 2, Optic atrophy 5, Optic atrophy 6, Optic atrophy and cataract ...
  • Kennedy's disease is a rare genetic condition also known as Kennedy's syndrome, Spinal bulbar muscular atrophy or SBMA. (medic8.com)
  • Also searched for Androgen Receptor and Spinal and bulbar muscular atrophy . (clinicaltrials.gov)
  • Spinal and bulbar muscular atrophy (SBMA) is an inherited disorder that affects men. (clinicaltrials.gov)
  • Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron disease for which there is currently no treatment. (clinicaltrials.gov)
  • Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). (medlineplus.gov)
  • Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. (medlineplus.gov)
  • Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. (medlineplus.gov)
  • The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat . (medlineplus.gov)
  • In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. (medlineplus.gov)
  • People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age. (medlineplus.gov)
  • Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (medlineplus.gov)
  • Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (medlineplus.gov)
  • Spinal and bulbar muscular atrophy (SBMA) is a hereditary neurodegenerative disease caused by an expansion of a trinucleotide CAG repeat encoding the polyglutamine tract in the androgen receptor ( AR ) gene. (jneurosci.org)
  • Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. (frontiersin.org)
  • Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, adult onset, neuromuscular disorder ( 1 ) characterized by slowly progressive lower motor neuron (LMN) degeneration, skeletal muscle pathology and by a spectrum of multi-organ involvement ( 2 - 4 ). (frontiersin.org)
  • 2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. (genedx.com)
  • 2013) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. (genedx.com)
  • 1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex -linked recessive trait. (genedx.com)
  • 1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254. (genedx.com)
  • 2009). Clinical features of spinal and bulbar muscular atrophy. (genedx.com)
  • 2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. (genedx.com)
  • 1996) Founder effect in spinal and bulbar muscular atrophy (SBMA). (genedx.com)
  • Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. (elitmed.hu)
  • The characteristic features of the disease become prominent in the 4-5th decades: proximal muscle wasting and weakness, bulbar signs, fasciculations in skeletal muscles, subtle signs of endocrine dysfunction, such as gynaecomastia or testicular atrophy. (elitmed.hu)
  • Objective To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). (bmj.com)
  • Such enlarged genetic segments have also been discovered in spinal-bulbar muscular atrophy , a rare inherited muscle-wasting syndrome. (thefreedictionary.com)
  • Motor neuron degeneration resulting from the aggregation of the androgen receptor with an expanded polyglutamine tract (AR-polyQ) has been linked to the development of spinal and bulbar muscular atrophy (SBMA or Kennedy disease). (elsevier.com)
  • Kennedy disease (KD), an X linked spinal and bulbar muscular atrophy, is caused by an expansion of a polymorphic tandem CAG repeat in the first exon of the androgen receptor (AR) gene. (pubmedcentralcanada.ca)
  • 1 The clinical phenotype is characterised by an adult onset slowly progressive proximal and symmetrical weakness of the limb and bulbar muscles, muscular atrophy and generalised fasciculations, predominantly affecting the facial muscles. (pubmedcentralcanada.ca)
  • Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). (cdc.gov)
  • Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy. (cdc.gov)
  • Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: report of 5 cases]. (cdc.gov)
  • Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. (elsevier.com)
  • We analyzed the polymorphic (CAG)(n) and (GGC)(n) repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. (elsevier.com)
  • Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this protein. (elsevier.com)
  • Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked disease associated with the expansion of the CAG triplet repeat present in exon 1 of the androgen receptor (AR) gene. (ox.ac.uk)
  • We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction. (bvsalud.org)
  • Bulbospinal mononeuropathy (Kennedy's syndrome) X linked, presents in men with symmetrical weakness, atrophy and fasciculations of bulbar and proximal limb muscles, testicular atrophy and gynecomastia.Occurs early, diagnosed by a CAG repeat, and is associated with a normal lifespan. (blogspot.com)
  • Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). (nih.gov)
  • Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease that is caused by the expansion of a polyQ tract within the androgen receptor (AR). (jneurosci.org)
  • A link between FOSMN syndrome and amyotrophic lateral sclerosis (ALS) has been recently suggested, 3 raising the prospect of establishing a potential mechanism of neurodegeneration. (bmj.com)
  • Intraperitoneal injection of ASC-J9 into AR-polyQ transgenic SBMA mice markedly improved disease symptoms, as seen by a reduction in muscular atrophy. (elsevier.com)
  • abstract = "Introduction: Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. (unicatt.it)
  • Kennedy's disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for producing the protein known as AR (androgen receptor). (medic8.com)
  • 4,5) Specific genetic tests are available for X-linked bulbospinal neuronopathy (Kennedy's disease), which causes a slowly progressive lower motor neurone syndrome, sensory neuropathy, and partial androgen insensitivity leading to gynaecomastia and the recessive form of proximal spinal muscular atrophy which can occasionally come on in adult life. (thefreedictionary.com)
  • We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome). (bvsalud.org)
  • Adult-onset SMA may be autosomal recessive, autosomal dominant or X-linked recessive (a form of SMA known as Bulbo-SMA or Kennedy's syndrome). (taoiststudy.com)
  • Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. (medlineplus.gov)
  • Spinal Muscular Atrophy (SMA) is neurodegenerative disease of anterior horn cells of spinal cord and represents the second more frequent pathology in childhood. (bioportfolio.com)
  • 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. (bioportfolio.com)
  • Spinal Muscular Atrophy ( SMA ) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem . (bionity.com)
  • A detailed understanding of the cellular and neural network properties giving rise to locomotion (i.e., walking) is essential in order to develop logical strategies aimed at restoring motor function after spinal cord injury. (umanitoba.ca)
  • This research, using lower mammalian models, is of direct relevance to human motor control, and takes place in the Spinal Cord Research Centre in the Department of Physiology. (umanitoba.ca)
  • Neurochemical excitation of thoracic propriospinal neurons improves hindlimb stepping in adult rats with spinal cord lesions. (umanitoba.ca)
  • Neurochemical excitation of propriospinal neurons facilitates locomotor command signal transmission in the lesioned spinal cord J. Neurophysiol. (umanitoba.ca)
  • Contribution of commissural projections to bulbospinal activation of locomotion in the in vitro neonatal rat spinal cord. (umanitoba.ca)
  • Propriospinal neurons are sufficient for bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. (umanitoba.ca)
  • Propriospinal neurons contribute to bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. (umanitoba.ca)
  • Spinal Cord 44: 322-325, 2006. (umanitoba.ca)
  • Is NMDA receptor activation essential for the production of locomotor-like activity in the neonatal rat spinal cord? (umanitoba.ca)
  • A reliable technique for the induction of locomotor-like activity in the in vitro neonatal rat spinal cord using brainstem electrical stimulation. (umanitoba.ca)
  • In: Spinal Cord Trauma: Neural Repair and Functional Recovery. (umanitoba.ca)
  • The role of serotonin in reflex modulation and locomotor rhythm production in the mammalian spinal cord. (umanitoba.ca)
  • MacLean J. and Schmidt B.J . Voltage-sensitivity of motoneuron NMDA receptor channels is modulated by serotonin in the neonatal rat spinal cord. (umanitoba.ca)
  • The grey column refers to a somewhat ridge-shaped mass of grey matter in the spinal cord. (wikipedia.org)
  • Gray commisure" (sic) in the image to the right), all of which are visible in cross-section of the spinal cord. (wikipedia.org)
  • The anterior grey column, also known as the anterior horn of spinal cord, comprises three different types of neurons: large alpha motor neurons, medium gamma motor neurons, and small neurons thought to be interneurons. (wikipedia.org)
  • The posterior grey column, also known as the posterior (or dorsal) horn of spinal cord, is divided into several laminae, based on the type of sensory information sent to each section. (wikipedia.org)
  • Lamina I is also known as the marginal nucleus of spinal cord. (wikipedia.org)
  • Late effects of radiation therapy can occur in the cranial nerve musculature that are similar to well-recognized syndromes affecting the brachial plexus and spinal cord. (neurology.org)
  • We measure the levels of 17 phosphorylated proteins in spinal cord and skeletal muscle of AR-97Q mice at three stages. (elsevier.com)
  • The signs of spinal cord reflex considerable voluntary control bladder neck contracture. (arohaphilanthropies.org)
  • Spinal muscular atrophy (SMA) is a disease characterized by progressive degeneration of motor neurons in the spinal cord. (taoiststudy.com)
  • Spinal muscular atrophy (SMA) affects the nerves in an area of the spinal cord called the anterior horn. (taoiststudy.com)
  • Because an in depth analysis of the ALS mouse model usually requires an immunohistochemical examination of the spinal cord, we demonstrate its preparation in detail applying the dorsal laminectomy method. (jove.com)
  • Respiratory compromise due to phrenic motor neuron loss is a debilitating consequence of a large proportion of human traumatic spinal cord injury (SCI) cases 1 and is the ultimate cause of death in patients with the motor neuron disorder, amyotrophic laterals sclerosis (ALS) 2 . (jove.com)
  • Spinal cord injury (SCI) is a heterogeneous set of conditions resulting from physical trauma to the spinal cord, with functional outcome varying according to the type, location and severity of the injury 7 . (jove.com)
  • We provide a detailed protocol for multi-segmental, intraspinal transplantation of NPCs into the cervical spinal cord ventral gray matter of neurodegenerative models such as SOD1 G93A mice and rats, as well as spinal cord injured rats and mice 11 . (jove.com)
  • Pathologic studies seem to support a neurodegenerative mechanism, with evidence of sensory and motor neuronal degeneration within the trigeminal sensory nucleus, dorsal root ganglion, brainstem and spinal cord motor nuclei along with an absence of tissue inflammation. (bmj.com)
  • mild course DYT-14 14q13 Dopa Responsive generalized dystonia Autosomal Dominant Early onset, leading to gait and postural abnormalities [cmdg.org] Lateral sclerosis is the loss of axons in the lateral columns of the spinal cord (the upper motor neurons of the corticospinal tracts). (symptoma.com)
  • Most corticospinal fibers (75%-90%) decussate in the lower medulla (pyramidal decussation) and form the lateral corticospinal tract in the spinal cord (the pyramidal tracts). (clinicalgate.com)
  • It seems to reflect altered firing of alpha motoneurons and interneurons within the spinal cord, together with increased activity of group II nerve fibers derived from muscle spindles. (clinicalgate.com)
  • [1] [2] Affected people may also have gynecomastia , testicular atrophy (reduction in size or function of the testes ), and reduced fertility as a result of mild androgen insensitivity. (cdc.gov)
  • The primary objective of this study is to demonstrate a pharmacodynamic effect of CK-2127107 on measures of skeletal muscle function or fatigability in patients with Spinal Muscular Atroph. (bioportfolio.com)
  • Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. (bmj.com)
  • It is a fatal disorder and is characterized by progressive skeletal muscle weakness and wasting or atrophy (ie, amyotrophy), spasticity, and fasciculations as a result of degeneration of the UMNs and LMNs, culminating in respiratory paralysis. (medscape.com)
  • Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes safe drug delivery. (bioportfolio.com)
  • Cervical puncture to deliver nusinersen in patients with spinal muscular atrophy. (bioportfolio.com)
  • To report our experience delivering intrathecal nusinersen through cervical puncture in patients with spinal muscular atrophy (SMA) with no lumbar access. (bioportfolio.com)
  • New research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy offers an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers. (thefreedictionary.com)
  • Subtle decreases in grey matter volume, mainly localised in frontal areas, were found, but extensive white matter atrophy was observed, particularly in frontal areas, but also involving multiple additional subcortical areas, the cerebellar white matter and the dorsal brainstem from the midbrain to the medulla oblongata. (pubmedcentralcanada.ca)
  • Duchenne muscular dystrophy (DMD) is an X-linked disease of progressive muscle deterioration and weakness. (semanticscholar.org)
  • Diseases in this category include Werdnig- Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD , most of which are hereditary . (spellorg.com)
  • HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (ucdenver.edu)
  • X linked spinobulbar muscular atrophy (Kennedy disease (KD)), which is clinically characterised mainly by neuromuscular and endocrine symptoms, has to be considered as a multisystem disorder. (pubmedcentralcanada.ca)
  • The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
  • He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. (bvsalud.org)
  • PBP is a progressive degenerative disorder of the motor nuclei in the medulla (specifically involving the glossopharyngeal, vagus, and hypoglossal nerves) that produces atrophy and fasciculations of the lingual muscles, dysarthria, and dysphagia. (medscape.com)
  • This type of mutation has also been found to cause a variety of neurodegenerative disorders, termed polyglutamine diseases, such as Huntington's disease (HD), several forms of spinocerebellar ataxia, and dentatorubral pallidoluysian atrophy ( Gatchel and Zoghbi, 2005 ). (jneurosci.org)
  • Polyglutamine-induced transcriptional dysregulation of the dynactin p150 subunit (dynactin 1), an axonal motor-associated protein, resulted in perturbation of retrograde axonal transport in spinal motor neurons in the early stage of the disease. (jneurosci.org)
  • Expression of X- linked bulbospinal muscular atrophy (Kennedy Disease) in two homozygous females. (umanitoba.ca)
  • Designed to address the needs of patients suffering from numerous respiratory complications, including chronic obstructive pulmonary disease, pneumonia, severe asthma, pleurisy, muscular atrophy , respiratory failure, neuromuscular disease and other diseases or injuries that impair respiration. (thefreedictionary.com)
  • X-linked disease). (invictagenetics.pl)
  • [2] Kennedy disease is caused by a mutation in the androgen receptor ( AR ) gene and is inherited in an X-linked recessive manner. (cdc.gov)
  • Kennedy disease is inherited in an X-linked recessive manner. (cdc.gov)
  • An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. (umassmed.edu)
  • An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. (umassmed.edu)
  • Machado Jospeh disease= spinocerebellar atrophy tpe 3. (blogspot.com)
  • There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life. (taoiststudy.com)
  • Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. (bioportfolio.com)
  • Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. (bioportfolio.com)
  • Brionni Alexander is the only child in Scotland with type one Spinal Muscular Atrophy , an incurable genetic condition. (thefreedictionary.com)
  • There was diffuse atrophy of the anterior cervical musculature, more prominent on the left, with continuous undulating movements of the tongue at rest and deviation to the left on attempted protrusion Figure 1 . (neurology.org)
  • Delayed radiation-induced atrophy of the anterior cervical musculature, with tongue deviation to the left on attempted protrusion. (neurology.org)
  • The lateral corticospinal tract projects to ipsilateral spinal motor neurons and their interneurons that control extremity muscle contraction, whereas the anterior corticospinal tract ends bilaterally on ventromedial motor neurons and interneurons that control the axial and postural muscles. (clinicalgate.com)
  • The level of phosphorylated Src (p-Src) is markedly increased in the spinal cords and skeletal muscles of AR-97Q mice prior to the onset. (elsevier.com)
  • These nerve cells become damaged, breaking the link between the brain and the muscles. (taoiststudy.com)
  • Neurological diseases are defined as disorders to the central and peripheral nervous systems including, but not limited to the brain, spinal chord, nerves and muscles. (nrf2.com)
  • Many are distinct entities, but some (e.g., primary lateral sclerosis, progressive muscular atrophy) may be variations of a single multisystem disorder that predominantly involves motor neurons. (clinicalgate.com)
  • In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. (bionity.com)
  • The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. (taoiststudy.com)
  • A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (medlineplus.gov)
  • To screen for carriers of SMN1 gene mutation, which underlies spinal muscular atrophy (SMA), in 4931 pregnant women from Liuzhou region of Guangxi, and to determine the carrier rate. (bioportfolio.com)
  • 1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. (genedx.com)
  • In the X-linked androgen insensitivity syndrome, defects in the androgen receptor gene have prevented the normal development of both internal and external male structures in 46, XY individuals. (semanticscholar.org)
  • Approximately twenty percent of familial cases are linked to various point mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene on chromosome 21 4 . (jove.com)
  • Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
  • Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi. (bioportfolio.com)
  • 1991) Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. (genedx.com)
  • Barth syndrome is transmitted in an X-linked recessive pattern. (harvard.edu)
  • Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • Rare congenital X-linked disorder of lipid metabolism. (harvard.edu)
  • Oxidative stress has been linked to hundreds of diseases including neurological diseases. (nrf2.com)
  • Nevertheless, approximately half of human SCI cases affect cervical regions, resulting in debilitating respiratory dysfunction due to phrenic motor neuron loss and injury to descending bulbospinal respiratory axons 1 . (jove.com)
  • To determine whether thyrotropin-releasing hormone (TRH) can increase muscle strength in children with spinal muscular atrophy types 2 and 3. (curehunter.com)
  • Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. (bioportfolio.com)
  • Ventral spinal root a. (bioportfolio.com)