Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Spinal Cord Injuries: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.Muscular Atrophy, Spinal: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)Optic Atrophy: 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.Spinal Muscular Atrophies of Childhood: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)Injections, Spinal: Introduction of therapeutic agents into the spinal region using a needle and syringe.Spinal Cord Diseases: Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.Spinal Nerves: 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.Multiple System Atrophy: 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)Anesthesia, Spinal: Procedure in which an anesthetic is injected directly into the spinal cord.Spinal Nerve Roots: Paired bundles of NERVE FIBERS entering and leaving the SPINAL CORD at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots are efferent, comprising the axons of spinal motor and PREGANGLIONIC AUTONOMIC FIBERS.Spinal Cord Neoplasms: 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.Spinal Canal: The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.Spinal DiseasesSpinal Cord Compression: 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.Spinal NeoplasmsSpinal Stenosis: Narrowing of the spinal canal.Spinal Fusion: 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)Olivopontocerebellar Atrophies: 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)Spinal Injuries: Injuries involving the vertebral column.Gyrate Atrophy: Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.Survival of Motor Neuron 1 Protein: A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.Motor Neurons: Neurons which activate MUSCLE CELLS.Magnetic Resonance Imaging: 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.Ganglia, Spinal: 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.Spinal Cord Ischemia: 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.SMN Complex Proteins: A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.Geographic Atrophy: 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.Paraplegia: 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.Muscular Disorders, Atrophic: Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).Survival of Motor Neuron 2 Protein: A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.Spine: The spinal or vertebral column.Thoracic Vertebrae: A group of twelve VERTEBRAE connected to the ribs that support the upper trunk region.Tuberculosis, Spinal: Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.Laminectomy: 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.Spinal Curvatures: 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).Cervical Vertebrae: The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.Rats, Sprague-Dawley: 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.Hematoma, Epidural, Spinal: 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.Posterior Horn Cells: 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.Optic Atrophy, Autosomal Dominant: 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.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Lumbosacral Region: Region of the back including the LUMBAR VERTEBRAE, SACRUM, and nearby structures.Anterior Horn Cells: MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.Lumbar Vertebrae: VERTEBRAE in the region of the lower BACK below the THORACIC VERTEBRAE and above the SACRAL VERTEBRAE.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.X Chromosome: 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.Spinal Fractures: Broken bones in the vertebral column.Bulbo-Spinal Atrophy, X-Linked: An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.Spinal Cord Regeneration: Repair of the damaged neuron function after SPINAL CORD INJURY or SPINAL CORD DISEASES.Hindlimb Suspension: 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.Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.Quadriplegia: 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.Pain: An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.Trigeminal Nucleus, Spinal: Nucleus of the spinal tract of the trigeminal nerve. It is divided cytoarchitectonically into three parts: oralis, caudalis (TRIGEMINAL CAUDAL NUCLEUS), and interpolaris.Hyperalgesia: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Locomotion: Movement or the ability to move from one place or another. It can refer to humans, vertebrate or invertebrate animals, and microorganisms.Recovery of Function: A partial or complete return to the normal or proper physiologic activity of an organ or part following disease or trauma.Myelography: X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space.Manipulation, Spinal: Adjustment and manipulation of the vertebral column.Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Gastritis, Atrophic: 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.Nerve Regeneration: Renewal or physiological repair of damaged nerve tissue.Neuralgia: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.Paralysis: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)Nerve Tissue ProteinsEpidural Space: Space between the dura mater and the walls of the vertebral canal.Pain Measurement: 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.SKP Cullin F-Box Protein Ligases: 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.Cordotomy: Any operation on the spinal cord. (Stedman, 26th ed)Hindlimb: 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)Spinal Puncture: Tapping fluid from the subarachnoid space in the lumbar region, usually between the third and fourth lumbar vertebrae.Myelitis: 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.Electric Stimulation: Use of electric potential or currents to elicit biological responses.Scoliosis: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)Optic Atrophies, Hereditary: 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).Nociceptors: 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.Cerebellar Ataxia: 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)Reflex: 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.Afferent Pathways: Nerve structures through which impulses are conducted from a peripheral part toward a nerve center.Spinal Cord Stimulation: Application of electric current to the spine for treatment of a variety of conditions involving innervation from the spinal cord.Decompression, Surgical: A surgical operation for the relief of pressure in a body compartment or on a body part. (From Dorland, 28th ed)Cats: 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)Alzheimer Disease: 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)Brain Stem: The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.Organ Size: The measurement of an organ in volume, mass, or heaviness.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Neurons, Afferent: Neurons which conduct NERVE IMPULSES to the CENTRAL NERVOUS SYSTEM.Spinal Dysraphism: 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)Physical Stimulation: Act of eliciting a response from a person or organism through physical contact.Hematoma, Subdural, Spinal: Subdural hematoma of the SPINAL CANAL.Uveal Diseases: Diseases of the uvea.Electric Stimulation Therapy: 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.Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Nerve Degeneration: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.Sciatic Nerve: 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.Spinal Osteophytosis: 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.Neuronal Apoptosis-Inhibitory Protein: 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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Rats, Wistar: A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.Supranuclear Palsy, Progressive: 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)Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Immobilization: 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.Muscle Proteins: The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.Mice, Inbred C57BLMuscle Denervation: The resection or removal of the innervation of a muscle or muscle tissue.Cyclic AMP Response Element-Binding Protein: 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.Pyramidal Tracts: 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.Treatment Outcome: 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.Motor Neuron Disease: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)Interneurons: 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.Kyphosis: 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.Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Dura Mater: The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord.Muscle Fibers, Skeletal: 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.Analgesics: Compounds capable of relieving pain without the loss of CONSCIOUSNESS.Cauda Equina: The lower part of the SPINAL CORD consisting of the lumbar, sacral, and coccygeal nerve roots.Facial Hemiatrophy: 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.Sacrum: 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.Animals, Newborn: Refers to animals in the period of time just after birth.Nerve Fibers, Myelinated: 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.Image Processing, Computer-Assisted: 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, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Muscle Spasticity: 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)Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Urinary Bladder, Neurogenic: 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.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Lampreys: 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.Nerve Fibers, Unmyelinated: 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.Spinal Cord Vascular Diseases: 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).Subarachnoid Space: 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.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Amyotrophic Lateral Sclerosis: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)Ornithine-Oxo-Acid Transaminase: 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.Shy-Drager Syndrome: 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)Nerve Fibers: 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.Paraparesis: 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.Decerebrate State: 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)Behavior, Animal: The observable response an animal makes to any situation.Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.Brain Diseases: 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.Factor X: 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.Neuroglia: 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.Dose-Response Relationship, Drug: The relationship between the dose of an administered drug and the response of the organism to the drug.Muscle Weakness: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)Retrospective Studies: 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.Spinocerebellar Degenerations: 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.Pain Threshold: Amount of stimulation required before the sensation of pain is experienced.Peripheral Nerves: The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.Morphine: 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.Evoked Potentials, Somatosensory: The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM.Neural Pathways: Neural tracts connecting one part of the nervous system with another.Cerebral Cortex: 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.Epidural Abscess: 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)Cerebellum: 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.Multiple Sclerosis: 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)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Autonomic Dysreflexia: 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)Reflex, Abnormal: 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.Mice, Knockout: 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.Anesthesia, Obstetrical: A variety of anesthetic methods such as EPIDURAL ANESTHESIA used to control the pain of childbirth.Myelin Sheath: 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.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Oligodendroglia: 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.Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.Strychnine: 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.Action Potentials: Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.RNA-Binding Proteins: Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Peripheral Nerve Injuries: Injuries to the PERIPHERAL NERVES.Functional Laterality: 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.Myoclonic Epilepsies, Progressive: 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.Efferent Pathways: 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.Anesthetics, Local: 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.Temporal Lobe: 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.Synaptic Transmission: 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.Astrocytes: 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.Follow-Up Studies: 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, Messenger: 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.Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Muscles: Contractile tissue that produces movement in animals.Syringomyelia: 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)Dementia: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.Hippocampus: 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.Hyperesthesia: Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli.Pepsinogen A: 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.Meninges: The three membranes that cover the BRAIN and the SPINAL CORD. They are the dura mater, the arachnoid, and the pia mater.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Reflex, Monosynaptic: 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, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Evoked Potentials: 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.Bupivacaine: A widely used local anesthetic agent.Tibial Nerve: 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.Epidural Neoplasms: 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.Macular Degeneration: 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.
Combined 3T diffusion tensor tractography and 1H-MR spectroscopy in motor neuron disease. (1/23)
(+info)Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? (2/23)
(+info)Mitochondrial abnormalities in spinal and bulbar muscular atrophy. (3/23)
(+info)Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. (4/23)
(+info)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)
(+info)B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (7/23)
(+info)Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy. (8/23)
(+info)
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Order Dutasteride Online - Dutasteride Buy Uk"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 ...
This leads to the development of paralytic poliomyelitis, the various forms of which (spinal, bulbar, and bulbospinal) vary ... CS1 maint: Unfit url (link) Accessed 16 December 2009. Spice B (4 April 2005). "Tireless polio research effort bears fruit and ... the muscles atrophy, becoming weak, floppy and poorly controlled, and finally completely paralyzed. Maximum paralysis ... Depending on the site of paralysis, paralytic poliomyelitis is classified as spinal, bulbar, or bulbospinal. Encephalitis, an ...
... is the normal or spontaneous atrophy or shrinkage of the breasts.[1] Breast atrophy commonly occurs in women during menopause when estrogen levels decrease.[2][3][4] It can also be caused by hypoestrogenism and/or hyperandrogenism in women in general,[1] such as in antiestrogen treatment for breast cancer, in polycystic ovary syndrome (PCOS),[5][6] and in malnutrition such as that associated with eating disorders like anorexia nervosa or with chronic disease.[1][7][8] It can also be an effect of weight loss.[8][9] In the treatment of gynecomastia in males and macromastia in women, and in hormone replacement therapy (HRT) for trans men,[10] breast atrophy may be a desired effect. Examples of treatment options for breast atrophy, depending on the situation/when appropriate, can include estrogens, antiandrogens, and proper nutrition or weight gain.[citation needed] ...
... is defined as a decrease in the mass of the muscle; it can be a partial or complete wasting away of muscle, and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and/or confined to bed as when hospitalized. When a muscle atrophies, this leads to muscle weakness, since the ability to exert force is related to mass. Modern medicine's understanding of the quick onset of muscle atrophy is a major factor behind the practice of getting hospitalized patients out of bed and moving about as active as possible as soon as is feasible, despite sutures, wounds, broken bones and pain. Muscle atrophy results from a co-morbidity of several common diseases, including cancer, AIDS, congestive heart failure, COPD (chronic obstructive pulmonary disease), renal failure, and severe burns; patients who have "cachexia" in these disease settings have a poor prognosis. Moreover, starvation eventually leads to muscle ...
... , or corticosteroid-induced dermal atrophy, is a side effect of prolonged application of topical corticosteroids. The potential for the condition exists whenever topical corticosteroids are used, even with low potency preparations. Skin atrophy, along with other undesirable side effects such as telangectasia and striae, can appear within 2 to 3 weeks of starting daily application of Class I and II topical corticosteroids, the greatest potential occurring when the application is occluded or when the preparation is applied to fragile skin. Risk depends on the strength of the steroid, the length of application, the site treated, and the nature of the skin problem. Within two weeks of starting Topical Steroid treatment, and probably within a few days, microscopic degenerative changes may be seen in the epidermis with a reduction of cell size and the number of cell layers. These effects may be rapidly reversible but with chronic administration, dermal changes become apparent. ...
... 1 (LCCS1), also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd gestational week. LCCS1 is one of 40 Finnish heritage diseases. It was first described in 1985 and since then, approximately 70 cases have been diagnosed. LCCS1 is characterized by total lack of the movements of the fetus, and is detectable at 13th week of pregnancy. It is accompanied by oedema, small chin, small lungs, crooked joints and occasional skin webs of the neck and elbows. The fetus has characteristic pattern of malpositions recognizable even in severely macerated fetuses with club feet and hyperextension of the knees but the elbows and wrists showing flexion contractures. Neuropathological analysis shows lack of anterior horn motoneurons and severe atrophy of the ventral spinal cord. The ...
... , also known as subcortical leukoencephalopathy, is a form of small vessel vascular dementia caused by damage to the white brain matter. White matter atrophy can be caused by many circumstances including chronic hypertension as well as old age. This disease is characterized by loss of memory and intellectual function and by changes in mood. These changes encompass what are known as executive functions of the brain. It usually presents between 54 and 66 years of age, and the first symptoms are usually mental deterioration or stroke. It was described by Otto Binswanger in 1894, and Alois Alzheimer first used the phrase "Binswanger's disease" in 1902. However, Olszewski is credited with much of the modern-day investigation of this disease which began in 1962. Symptoms include mental deterioration, language disorder, transient ischemic attack, muscle ataxia, and impaired movements including change of walk, slowness of movements, and change in posture. These symptoms usually ...
... , or estrogen deficiency, refers to a lower than normal level of estrogen, the primary sex hormone in women. In general, lower levels of estrogen may cause differences in the breasts, genitals, urinary tract, and skin. Hypoestrogenism is most commonly found in women who are postmenopausal, have premature ovarian failure, or are suffering from amenorrhea; however, it is also associated with hyperprolactinemia and the use of gonadotropin-releasing hormone (GnRH) analogues in treatment of endometriosis. It has also been linked to scoliosis and young women with type 1 diabetes mellitus. Presentations of low estrogen levels include hot flashes, headaches, lowered libido, and breast atrophy. Reduced bone density leading to secondary osteoporosis and atrophic changes such as pH change in the vagina is also linked to hypoestrogenism. Low levels of estrogen can lead to dyspareunia and limited genital arousal because of changes in the four layers of the vaginal ...
... (27 March 1845 - 10 May 1917) was a French neurologist from Reims, and whose father and grandfather were also physicians.. He studied medicine in Reims and Paris, earning his doctorate in 1876. He spent much his career at the University of Paris, becoming a professor of therapy in 1893 and a dean of medicine in 1901.. His name is associated with the "Landouzy-Dejerine syndrome", a type of muscular dystrophy with atrophic changes to the facial muscles and scapulo-humeral region. It is named along with neurologist Joseph Jules Dejerine, who was a colleague and close friend. Landouzy was a witness at the wedding of Dejerine to Augusta Marie Klumpke (1859-1927) in 1888.. Landouzy's primary area of interest dealt with tuberculosis, and he was a major figure involving education of the public for its eradication. He was a member of several international committees in regards to tuberculosis.. He is credited with coining the word "camptodactyly" to describe a flexion ...
Over the past two decades, hundreds of studies have shed light on the neuroanatomical structural correlates of neurological and psychiatric disorders. Many of these studies were performed using voxel-based morphometry (VBM), a whole-brain technique for characterizing between groups'regional volume and tissue concentration differences from structural magnetic resonance imaging (MRI) scans.[5]. One of the first VBM studies and one that came to attention in mainstream media was a study on the hippocampus brain structure of London taxicab drivers.[6] The VBM analysis showed the back part of the posterior hippocampus was on average larger in the taxi drivers compared to control subjects while the anterior hippocampus was smaller. London taxi drivers need good spatial navigational skills and scientists have usually associated hippocampus with this particular skill. Another famous VBM paper was a study on the effect of age on gray and white matter and CSF of 465 normal adults.[7] The VBM analysis ...
At the time the High-Risk-for-Schizophrenia study began, in 1962, the offspring of the women with schizophrenia were average age 15 and had not come into the risk period for schizophrenia. (See a review by[3] Cannon and Mednick, 1993). By the early eighties, many of the study's subjects had fallen ill with schizophrenia. Colleagues and students of Mednick began to examine the association between schizophrenia outcomes and earlier risk factors. Perhaps the first study to support Kraepelin's notion of dementia praecox (that persons with schizophrenia had early dementia), was a study that showed that offspring of those with schizophrenia who had the most serious symptomatology had enlarged ventricles on CT scans suggestive of brain atrophy. In a study by Silverton et al. those with the most severe schizophrenia symptoms on outcome had low birthweights decades before.[4] Their hypothesis that low birthweight might be associated with insults in utero was corroborated. In a follow-up study, the ...
A spinal cord injury (SCI) is damage to the spinal cord that causes changes in its function, either temporary or permanent. These changes translate into loss of muscle function, sensation, or autonomic function in parts of the body served by the spinal cord below the level of the lesion. Injuries can occur at any level of the spinal cord and can be classified as complete injury, a total loss of sensation and muscle function, or incomplete, meaning some nervous signals are able to travel past the injured area of the cord. Depending on the location and severity of damage along the spinal cord, the symptoms can vary widely, from pain or numbness to paralysis to incontinence. The prognosis also ranges widely, from full recovery in rare cases to permanent tetraplegia (also called quadriplegia) in injuries at the level of the neck, and paraplegia in lower injuries. Complications that can occur in the short and long term after ...
A spinal tumor is when unusual tissue begins growing and spreading in the spinal columns or spinal cords. The unusual tissue builds up from abnormal cells that multiply quickly in a specific region. Tumors generally are broken down into categories known as benign, meaning non-cancerous, or malignant, meaning cancerous, and also primary or secondary. Primary spinal tumors begin in either the spinal cord or spinal column, whereas secondary spinal tumors begin elsewhere and spread to the spinal region.[9] Symptoms for spinal tumors may vary due to factors such as the type of tumor, the region of the spine, and the health of the patient. Back pain is the most common symptom and it can be a problem if the pain is severe, has a time frame that lasts longer than it would for a normal injury, and becomes worse while laying down or at rest. Other symptoms, excluding ...
The chemokine (C-X-C motif) ligand 1 (CXCL1) is a small cytokine belonging to the CXC chemokine family that was previously called GRO1 oncogene, GROα, KC, neutrophil-activating protein 3 (NAP-3) and melanoma growth stimulating activity, alpha (MSGA-α). In humans, this protein is encoded by the CXCL1 gene. CXCL1 is secreted by human melanoma cells, has mitogenic properties and is implicated in melanoma pathogenesis. CXCL1 is expressed by macrophages, neutrophils and epithelial cells, and has neutrophil chemoattractant activity. CXCL1 plays a role in spinal cord development by inhibiting the migration of oligodendrocyte precursors and is involved in the processes of angiogenesis, arteriogenesis, inflammation, wound healing, and tumorigenesis. This chemokine elicits its effects by signaling through the chemokine receptor CXCR2. The gene for CXCL1 is located on human chromosome 4 amongst genes for other CXC chemokines. An initial study in mice showed evidence that CXCL1 decreased the severity of ...
புற நரம்பு மண்டலம் அல்லது புற நரம்புத் தொகுதி (Peripheral Nervous System - PNS) எனப்படுவது, நரம்புத் தொகுதியின் இரு பெரும் பிரிவுகளில் ஒன்றாகவும், அத் தொகுதியின் மைய நரம்பு மண்டலம் தவிர்ந்த ஏனைய உணர் நரம்புக் கலங்களையும், அவற்றை நரம்பு நாண்கள் (nerve cord), முண்ணாண் (spinal cord), மூளை என்பவற்றுடன் இணைக்கும் நரம்புகளையும் கொண்டது. மையநரம்புத் தொகுதியுடன், கண், காது போன்ற உணர் உறுப்புக்களையும், தசைகள், ...
Kennedy's Disease (Bulbospinal Muscular Atrophy, X-Linked Spinal and Bulbar Muscular Atrophy)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 ...
X linked bulbo spinal atrophy - Definition and misspellings for X Linked Bulbo Spinal Atrophy at Spellorg.comz 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 ...
"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): ...
Muscular Atrophy. Motor Neuron Disease. Amyotrophic Lateral Sclerosis. Bulbo-Spinal Atrophy, X-Linked. Atrophy. Pathological ... Muscular Atrophy, Spinal. Heredodegenerative Disorders, Nervous System. Genetic Diseases, X-Linked. Genetic Diseases, Inborn. ... Kennedy WR, Alter M. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. J ... Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy. The safety and scientific validity of this study ...
Bulbo-Spinal Atrophy, X-Linked. Atrophy. Pathological Conditions, Anatomical. Muscular Atrophy, Spinal. Spinal Cord Diseases. ... Resource links provided by the National Library of Medicine Genetics Home Reference related topics: Spinal and bulbar muscular ... It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of muscles in the arms ...
What does XBSMA mean? - Definition of XBSMA - XBSMA stands for X-linked bulbospinal muscular atrophy. By AcronymsAndSlang.comThe 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 muscular atrophy : Time for newborn screening?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. ...
JCI -
Disrupting SUMOylation enhances transcriptional function and ameliorates polyglutamine androgen receptor-mediated diseaseProgressive 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 ...
Plus it1968) 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. ...
Frontiers | Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review | NeurologyX-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, ...
uworld assessment block#1 4.15 Flashcards by Nashid Chaudhury | BrainscapeX-linked bulbospinal muscular atrophy (kennedy disease) 60 genetic heterogeneity mutations of different genes cause similar ...
BSMA - What does BSMA stand for? The Free DictionaryBulbo-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 ...
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 ...
EA022007B1 - Heterocylcic derivatives as inhibitors of glutaminyl cyclase
- Google Patents208000006269 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? ...
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 ...
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 ...
![Anxiety in epilepsy - based on two case reports] | eLitMed](data:image/png;base64,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)
Anxiety in epilepsy - based on two case reports] | eLitMedKennedy 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. ...
Eponyms - K Eponymsbulbospinal 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 ...
Professor Oliver Hanemann - University of PlymouthHanemann 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 ...
"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 ...
Delayed radiation-induced bulbar palsy | NeurologyDNA 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 ...
Pesquisa | Portal Regional da BVSKennedys 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 ...
Bulbar muscularKennedy'sTesticular atrophySpinobulbar MusculaForm of spinal musculaFasciculationsDiseaseAmyotrophic Lateral SCongenitalMuscular atrophiesGeneSyndromeOnsetMusclesCervicalRecessive bulbospinalParalysisDiseasesMutationDisordersVentralDefinitionPatientsInheritanceMuscleOpticDorsalMeSHGenetic conditionLogin
- 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 (SBMA) is an inherited disease. (clinicaltrials.gov)
- Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive hereditary motor neuron disease for which there is currently no effective treatment. (clinicaltrials.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)
- Such enlarged genetic segments have also been discovered in spinal-bulbar muscular atrophy , a rare inherited muscle-wasting syndrome. (thefreedictionary.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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- An X-linked recessive form of spinal muscular atrophy. (ouhsc.edu)
- 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)
- 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)
- 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)
- An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. (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)
- 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)
- Rare congenital X-linked disorder of lipid metabolism. (harvard.edu)
- 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)
- 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)
- A condition is X-linked if the mutated responsible gene is located on the X chromosome (one of the two sex chromosomes ). (cdc.gov)
- 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)
- 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)
- 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)
- Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. (elitmed.hu)
- Barth syndrome is transmitted in an X-linked recessive pattern. (harvard.edu)
- 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)
- The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. (taoiststudy.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)
- 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)
- 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)
- 1991) Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. (genedx.com)
- The absence of true ankylosis permits surgery for arytenoid mobilization and VC medialization, but with protracted paralysis, muscular atrophy and fibrosis may be limiting factors to medialization. (thefreedictionary.com)
- Depending on the site of paralysis, paralytic poliomyelitis is classified as spinal, bulbar, or bulbospinal. (wikipedia.org)
- Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi. (bioportfolio.com)
- X-linked disorders are related to the X chromosome. (medic8.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)
- Definition of XBSMA - XBSMA stands for X-linked bulbospinal muscular atrophy. (acronymsandslang.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)
- 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)
- 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)
- To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA). (bvsalud.org)
- CAPTION: Figure 1: Pedigree chart showing the index case and affected of other male members of the family suggesting an X-linked recessive inheritance pattern. (thefreedictionary.com)
- Recognition of the familial occurence of this rare disorder and pedigree analysis demonstrated an X-linked recessive inheritance pattern of the trait (86). (thefreedictionary.com)
- Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. (bioportfolio.com)
- To determine whether thyrotropin-releasing hormone (TRH) can increase muscle strength in children with spinal muscular atrophy types 2 and 3. (curehunter.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)
- Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
- Brionni Alexander is the only child in Scotland with type one Spinal Muscular Atrophy , an incurable genetic condition. (thefreedictionary.com)
- Login to edit your profile (add a photo, awards, links to other websites, etc. (harvard.edu)