Motor Neuron Disease
Neuromuscular Diseases
Bulbar Palsy, Progressive
Amyotrophic Lateral Sclerosis
Muscular Atrophy, Spinal
Neurons
Survival of Motor Neuron 1 Protein
Spinal Cord
Survival of Motor Neuron 2 Protein
Anterior Horn Cells
Nerve Degeneration
SMN Complex Proteins
Superoxide Dismutase
Muscular Disorders, Atrophic
Motor Cortex
Fasciculation
Bulbo-Spinal Atrophy, X-Linked
Gagging
Muscular Atrophy
TDP-43 Proteinopathies
Frontotemporal Lobar Degeneration
Neurofilament Proteins
Frontotemporal Dementia
Electromyography
beta-Hexosaminidase beta Chain
Evoked Potentials, Motor
RNA-Binding Protein FUS
Riluzole
Pyrrolidonecarboxylic Acid
Inclusion Bodies
Neural Conduction
Electric Injuries
Deglutition Disorders
Pick Disease of the Brain
Mice, Transgenic
Brain Injury, Chronic
Lathyrism
DEAD Box Protein 20
Disease Models, Animal
Ulnar Nerve
Mutation
Nerve Tissue Proteins
Spinal Cord Diseases
Brain
Peripheral Nerves
Action Potentials
Sandhoff Disease
Marchiafava-Bignami Disease
Rats, Transgenic
Neurologic Examination
Cricoid Cartilage
Axonal Transport
Dementia
DNA Repeat Expansion
Paralysis
Spinal Muscular Atrophies of Childhood
Recruitment, Neurophysiological
Muscle, Skeletal
Age of Onset
Animals, Genetically Modified
Spastic Paraplegia, Hereditary
Gastrostomy
Muscle Weakness
Immunohistochemistry
Spinal Nerve Roots
Cells, Cultured
Cell Death
Molecular Motor Proteins
Mice, Inbred C57BL
Pedigree
Cell Count
Synapses
Thyrotropin-Releasing Hormone
Phenotype
Ganglia, Invertebrate
Nervous System Diseases
Atrophy
Neuroprotective Agents
Chronic motor neuropathies: response to interferon-beta1a after failure of conventional therapies. (1/458)
OBJECTIVES: The effect of interferon-beta1a (INF-beta1a; Rebif) was studied in patients with chronic motor neuropathies not improving after conventional treatments such as immunoglobulins, steroids, cyclophosphamide or plasma exchange. METHODS: A prospective open study was performed with a duration of 6-12 months. Three patients with a multifocal motor neuropathy and one patient with a pure motor form of chronic inflammatory demyelinating polyneuropathy were enrolled. Three patients had anti-GM1 antibodies. Treatment consisted of subcutaneous injections of IBF-beta1a (6 MIU), three times a week. Primary outcome was assessed at the level of disability using the nine hole peg test, the 10 metres walking test, and the modified Rankin scale. Secondary outcome was measured at the impairment level using a slightly modified MRC sumscore. RESULTS: All patients showed a significant improvement on the modified MRC sumscore. The time required to walk 10 metres and to fulfil the nine hole peg test was also significantly reduced in the first 3 months in most patients. However, the translation of these results to functional improvement on the modified Rankin was only seen in two patients. There were no severe adverse events. Motor conduction blocks were partially restored in one patient only. Anti-GM1 antibody titres did not change. CONCLUSION: These findings indicate that severely affected patients with chronic motor neuropathies not responding to conventional therapies may improve when treated with INF-beta1a. From this study it is suggested that INF-beta1a should be administered in patients with chronic motor neuropathies for a period of up to 3 months before deciding to cease treatment. A controlled trial is necessary to confirm these findings. (+info)Use of human intravenous immunoglobulin in lower motor neuron syndromes. (2/458)
OBJECTIVE: To determine whether patients with the clinical phenotype of multifocal motor neuropathy but without the electrophysiological criteria for conduction block would respond to intravenous immunoglobulin (IVIg). METHODS: Ten patients were selected with a slowly progressive, asymmetric, lower motor neuron disorder, and were treated prospectively with IVIg at a dose of 2g/kg over 5 days. All subjects had neurophysiological testing to look for evidence of conduction block before treatment. Muscle strength was assessed by MRC grades and hand held myometry, measuring pinch and grip strength. A 20% increase in both pinch and grip myometry was considered a positive response. RESULTS: In no patient was conduction block detected. Four of the 10 patients showed a positive response to IVIg, with the best response occurring in two patients who presented with weakness but without severe muscle wasting. Three of the four responders have continued to receive IVIg for a mean period of 17 months (range 15-24 months), with continued effect. The response to IVIg was not related to the presence of anti-GM1 antiganglioside antibodies, but responders had a selective pattern of muscle weakness and normal (>90% predicted) vital capacity. CONCLUSION: The findings suggest that a course of IVIg should be considered in patients with the clinical phenotype of multifocal motor neuropathy but without neurophysiological evidence of conduction block. (+info)Peripheral nerve lesions in a case of equine motor neuron disease. (3/458)
A male 14-year-old Arab horse was pathologically diagnosed as equine motor neuron disease (EMND), which was kept as a breeding horse on a farm in Tokachi district of Hokkaido in Japan. On examination of the peripheral nerves, the most characteristic feature was Wallerian-type degeneration revealed by myelinoclasis associated with myelin ovoids which were sometimes infiltrated by macrophages. The other abnormalities were axonal swellings which were surrounded by thin myelin sheaths. Ultrastructurally, the axonal swelling was due to an accumulation of neurofilaments, and was accompanied by a thin and degenerating myelin sheaths. In teased nerve fiber preparations, the most conspicuous change was myelinoclasis represented by segmentation into myelin ovoids or balls. Occasionally, segmental demyelination and axonal degeneration characterized by multifocal axonal swelling were observed. (+info)Hyperreflexia in Guillain-Barre syndrome: relation with acute motor axonal neuropathy and anti-GM1 antibody. (4/458)
OBJECTIVES: To investigate the incidence of hyperreflexia in patients with Guillain-Barre syndrome (GBS), and its relation with electrodiagnosis of acute motor axonal neuropathy (AMAN), antiganglioside GM1 antibody, and Campylobacter jejuni infection. It was reported that patients with AMAN in northern China often had hyperreflexia in the recovery phase. METHODS: In 54 consecutive Japanese patients with GBS, sequential findings of tendon reflexes were reviewed. By electrodiagnostic criteria, patients were classified as having AMAN or acute inflammatory demyelinating polyneuropathy (AIDP). Anti-GM1 and anti-C jejuni antibodies were measured by enzyme linked immunosorbent assays. RESULTS: Seven (13%) patients developed hyperreflexia with the spread of the myotatic reflex to other segments in the early recovery phase, one of whom already had hyperreflexia in the acute progressive phase. Of the seven patients, six had AMAN and all seven had anti-GM1 antibodies, whereas only two had anti-C jejuni antibodies. Hyperreflexia was more often found in patients with AMAN than AIDP (6/23 v 1/18, p=0. 002), and in patients with anti-GM1 antibodies than without them (7/26 v 0/28, p=0.01). Hyperreflexic patients had milder peak disabilities than patients without hyperreflexia (p=0.03). Increased motor neuron excitability in the hyperreflexic patients was supported by increased soleus H-reflex amplitudes and the appearance of H-reflexes in the small hand or foot muscles. CONCLUSIONS: Hyperreflexia often occurs in patients with GBS especially with AMAN, anti-GM1 antibodies, and milder disease. Increased motor neuron excitability further characterises the subgroup of patients with GBS with AMAN and anti-GM1 antibodies. (+info)Androgen receptor mutation in Kennedy's disease. (5/458)
Kennedy's disease is an X-linked form of motor neuron disease caused by an expanded polyglutamine repeat in the androgen receptor. While the expansion mutation causes some loss of transcriptional activity by the androgen receptor, the predominant effect of expansion is probably a toxic gain of function, similar to the mechanism of other polyglutamine expansion diseases. Features of the neurodegenerative phenotype of Kennedy's disease have now been reproduced in transgenic animals and neuronal cell culture. Nuclear inclusions of mutant androgen receptor protein are found in these model systems and in autopsy samples from patients with Kennedy's disease. (+info)Calcium dynamics and buffering in motoneurones of the mouse spinal cord. (6/458)
1. A quantitative analysis of endogenous calcium homeostasis was performed on 65 motoneurones in slices of the lumbar spinal cord from 2- to 8-day-old mice by simultaneous patch-clamp and microfluorometric calcium measurements. 2. Somatic calcium concentrations were monitored with a temporal resolution in the millisecond time domain. Measurements were performed by using a monochromator for excitation and a photomultiplier detection system. 3. Somatic calcium signalling was investigated during defined voltage-clamp protocols. Calcium responses were observed for membrane depolarizations positive to -50 mV. A linear relation between depolarization time and free calcium concentrations ([Ca2+]i) indicated that voltage-dependent calcium influx dominated the response. 4. Endogenous calcium homeostasis was quantified by using the 'added buffer' approach. In the presence of fura-2 and mag-fura-5, calcium transients decayed according to a monoexponential function. Decay-time constants showed a linear dependence on dye concentration and the extrapolated constant in the absence of indicator dye was 371 +/- 120 ms (n = 13 cells, 21 C). 5. For moderate elevations (< 1 microM), recovery kinetics of depolarization-induced calcium transients were characterized by a calcium-independent, 'effective' extrusion rate gamma = 140 +/- 47 s-1 (n = 13 cells, 21 C). 6. The endogenous calcium binding ratio for fixed buffers in spinal motoneurones was kappaB' = 50 +/- 17 (n = 13 cells), indicating that less than 2 % of cytosolic calcium ions contributed to [Ca2+]i. 7. Endogenous binding ratios in spinal motoneurones were small compared to those found in hippocampal or cerebellar Purkinje neurones. From a functional perspective, they provided motoneurones with rapid dynamics of cytosolic [Ca2+]i for a given set of influx, extrusion and uptake mechanisms. 8. With respect to pathophysiological conditions, our measurements are in agreement with a model where the selective vulnerability of spinal motoneurones during excitotoxic conditions and motoneurone disease partially results from low endogenous calcium buffering. (+info)Adenoviral cardiotrophin-1 gene transfer protects pmn mice from progressive motor neuronopathy. (7/458)
Cardiotrophin-1 (CT-1), an IL-6-related cytokine, causes hypertrophy of cardiac myocytes and has pleiotropic effects on various other cell types, including motoneurons. Here, we analyzed systemic CT-1 effects in progressive motor neuronopathy (pmn) mice that suffer from progressive motoneuronal degeneration, muscle paralysis, and premature death. Administration of an adenoviral CT-1 vector to newborn pmn mice leads to sustained CT-1 expression in the injected muscles and bloodstream, prolonged survival of animals, and improved motor functions. CT-1-treated pmn mice showed a significantly reduced degeneration of facial motoneuron cytons and phrenic nerve myelinated axons. The terminal innervation of skeletal muscle, grossly disturbed in untreated pmn mice, was almost completely preserved in CT-1-treated pmn mice. The remarkable neuroprotection conferred by CT-1 might become clinically relevant if CT-1 side effects, including cardiotoxicity, could be circumvented by a more targeted delivery of this cytokine to the nervous system. (+info)Pathophysiological mechanisms of oropharyngeal dysphagia in amyotrophic lateral sclerosis. (8/458)
We investigated the pathophysiological mechanisms of dysphagia in amyotrophic lateral sclerosis. Forty-three patients with sporadic amyotrophic lateral sclerosis were examined by clinical and electrophysiological methods that objectively measured the oropharyngeal phase of voluntarily initiated swallowing, and these results were compared with those obtained from 50 age-matched control subjects. Laryngeal movements were detected by a piezoelectric sensor and EMG of submental muscles, and needle EMG of the cricopharyngeal muscle of the upper oesophageal sphincter of both the amyotrophic lateral sclerosis and control groups was recorded during swallowing. Amyotrophic lateral sclerosis patients with dysphagia displayed the following abnormal findings. (i) Submental muscle activity of the laryngeal elevators, which produce reflex upward deflection of the larynx during wet swallowing, was significantly prolonged whereas the laryngeal relocation time of the swallowing reflex remained within normal limits. (ii) The cricopharyngeal sphincter muscle EMG demonstrated severe abnormalities during voluntarily initiated swallows. The opening of the sphincter was delayed and/or the closure occurred prematurely, the total duration of opening was shortened and, at times, unexpected motor unit bursts appeared during this period. (iii) During voluntarily initiated swallows there was significant lack of co-ordination between the laryngeal elevator muscles and the cricopharyngeal sphincter muscle. These results point to two pathophysiological mechanisms that operate to cause dysphagia in amyotrophic lateral sclerosis patients. (i) The triggering of the swallowing reflex for the voluntarily initiated swallow is delayed and eventually abolished, whereas the spontaneous reflexive swallows are preserved until the preterminal stage of amyotrophic lateral sclerosis. (ii) The cricopharyngeal sphincter muscle of the upper oesophageal sphincter becomes hyper-reflexic and hypertonic. As a result, the laryngeal protective system and the bolus transport system of deglutition lose their co-ordination during voluntarily initiated swallowing. We conclude that these pathophysiological changes are related mainly to the progressive degeneration of the excitatory and inhibitory corticobulbar pyramidal fibres. (+info)Motor Neuron Disease (MND) is a progressive neurodegenerative disorder that affects the motor neurons, which are nerve cells in the brain and spinal cord responsible for controlling voluntary muscles involved in movement, speaking, breathing, and swallowing. As the motor neurons degenerate and die, they stop sending signals to the muscles, causing them to weaken, waste away (atrophy), and eventually lead to paralysis.
There are several types of MND, including:
1. Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, this is the most common form of MND. It affects both upper and lower motor neurons, causing muscle weakness, stiffness, twitching, and atrophy throughout the body.
2. Progressive Bulbar Palsy (PBP): This type primarily affects the bulbar muscles in the brainstem, which control speech, swallowing, and chewing. Patients with PBP experience difficulties with speaking, slurred speech, and problems swallowing and may also have weak facial muscles and limb weakness.
3. Primary Lateral Sclerosis (PLS): This form of MND affects only the upper motor neurons, causing muscle stiffness, spasticity, and weakness, primarily in the legs. PLS progresses more slowly than ALS, and patients usually maintain their ability to speak and swallow for a longer period.
4. Progressive Muscular Atrophy (PMA): This type of MND affects only the lower motor neurons, causing muscle wasting, weakness, and fasciculations (muscle twitches). PMA progresses more slowly than ALS but can still be severely disabling over time.
5. Spinal Muscular Atrophy (SMA): This is a genetic form of MND that typically presents in infancy or childhood, although adult-onset forms exist. SMA affects the lower motor neurons in the spinal cord, causing muscle weakness and atrophy, primarily in the legs and trunk.
The exact cause of Motor Neuron Disease is not fully understood, but it is believed to involve a combination of genetic, environmental, and lifestyle factors. There is currently no cure for MND, and treatment focuses on managing symptoms, maintaining quality of life, and slowing disease progression through various therapies and medications.
Motor neurons are specialized nerve cells in the brain and spinal cord that play a crucial role in controlling voluntary muscle movements. They transmit electrical signals from the brain to the muscles, enabling us to perform actions such as walking, talking, and swallowing. There are two types of motor neurons: upper motor neurons, which originate in the brain's motor cortex and travel down to the brainstem and spinal cord; and lower motor neurons, which extend from the brainstem and spinal cord to the muscles. Damage or degeneration of these motor neurons can lead to various neurological disorders, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Neuromuscular diseases are a group of disorders that involve the peripheral nervous system, which includes the nerves and muscles outside of the brain and spinal cord. These conditions can affect both children and adults, and they can be inherited or acquired. Neuromuscular diseases can cause a wide range of symptoms, including muscle weakness, numbness, tingling, pain, cramping, and twitching. Some common examples of neuromuscular diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), peripheral neuropathy, and myasthenia gravis. The specific symptoms and severity of these conditions can vary widely depending on the underlying cause and the specific muscles and nerves that are affected. Treatment for neuromuscular diseases may include medications, physical therapy, assistive devices, or surgery, depending on the individual case.
Progressive bulbar palsy (PBP) is a form of motor neuron disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS). It is characterized by the progressive degeneration of the motor neurons in the brainstem, which control vital functions such as swallowing, speaking, chewing, and breathing.
In PBP, these symptoms gradually worsen over time, often resulting in severe disability and ultimately death due to respiratory failure. The progression of the disease can vary from person to person, but it typically advances more slowly than other forms of ALS. There is currently no cure for PBP or any other form of MND, and treatment is focused on managing symptoms and maintaining quality of life.
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord responsible for controlling voluntary muscle movements, such as speaking, walking, breathing, and swallowing. The condition is characterized by the degeneration of motor neurons in the brain (upper motor neurons) and spinal cord (lower motor neurons), leading to their death.
The term "amyotrophic" comes from the Greek words "a" meaning no or negative, "myo" referring to muscle, and "trophic" relating to nutrition. When a motor neuron degenerates and can no longer send impulses to the muscle, the muscle becomes weak and eventually atrophies due to lack of use.
The term "lateral sclerosis" refers to the hardening or scarring (sclerosis) of the lateral columns of the spinal cord, which are primarily composed of nerve fibers that carry information from the brain to the muscles.
ALS is often called Lou Gehrig's disease, named after the famous American baseball player who was diagnosed with the condition in 1939. The exact cause of ALS remains unknown, but it is believed to involve a combination of genetic and environmental factors. There is currently no cure for ALS, and treatment primarily focuses on managing symptoms and maintaining quality of life.
The progression of ALS varies from person to person, with some individuals experiencing rapid decline over just a few years, while others may have a more slow-progressing form of the disease that lasts several decades. The majority of people with ALS die from respiratory failure within 3 to 5 years after the onset of symptoms. However, approximately 10% of those affected live for 10 or more years following diagnosis.
Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of SMN protein necessary for the survival of motor neurons.
There are several types of SMA, classified based on the age of onset and severity of symptoms. The most common type is type 1, also known as Werdnig-Hoffmann disease, which presents in infancy and is characterized by severe muscle weakness, hypotonia, and feeding difficulties. Other types include type 2 (intermediate SMA), type 3 (Kugelberg-Welander disease), and type 4 (adult-onset SMA).
The symptoms of SMA may include muscle wasting, fasciculations, weakness, hypotonia, respiratory difficulties, and mobility impairment. The diagnosis of SMA typically involves genetic testing to confirm the presence of a mutation in the SMN1 gene. Treatment options for SMA may include medications, physical therapy, assistive devices, and respiratory support.
Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.
Survival of Motor Neuron 1 (SMN1) protein is a critical component for the survival of motor neurons, which are nerve cells that control muscle movements. The SMN1 protein is produced by the Survival of Motor Neuron 1 gene, located on human chromosome 5q13.
The primary function of the SMN1 protein is to assist in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for spliceosomes - complex molecular machines responsible for RNA processing in the cell. The absence or significant reduction of SMN1 protein leads to defective snRNP assembly, impaired RNA splicing, and ultimately results in motor neuron degeneration.
Mutations in the SMN1 gene can cause Spinal Muscular Atrophy (SMA), a genetic disorder characterized by progressive muscle weakness, atrophy, and paralysis due to the loss of lower motor neurons in the spinal cord. The severity of SMA depends on the amount of functional SMN1 protein produced, with less protein leading to more severe symptoms.
The spinal cord is a major part of the nervous system, extending from the brainstem and continuing down to the lower back. It is a slender, tubular bundle of nerve fibers (axons) and support cells (glial cells) that carries signals between the brain and the rest of the body. The spinal cord primarily serves as a conduit for motor information, which travels from the brain to the muscles, and sensory information, which travels from the body to the brain. It also contains neurons that can independently process and respond to information within the spinal cord without direct input from the brain.
The spinal cord is protected by the bony vertebral column (spine) and is divided into 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. Each segment corresponds to a specific region of the body and gives rise to pairs of spinal nerves that exit through the intervertebral foramina at each level.
The spinal cord is responsible for several vital functions, including:
1. Reflexes: Simple reflex actions, such as the withdrawal reflex when touching a hot surface, are mediated by the spinal cord without involving the brain.
2. Muscle control: The spinal cord carries motor signals from the brain to the muscles, enabling voluntary movement and muscle tone regulation.
3. Sensory perception: The spinal cord transmits sensory information, such as touch, temperature, pain, and vibration, from the body to the brain for processing and awareness.
4. Autonomic functions: The sympathetic and parasympathetic divisions of the autonomic nervous system originate in the thoracolumbar and sacral regions of the spinal cord, respectively, controlling involuntary physiological responses like heart rate, blood pressure, digestion, and respiration.
Damage to the spinal cord can result in various degrees of paralysis or loss of sensation below the level of injury, depending on the severity and location of the damage.
Survival of Motor Neuron 2 (SMN2) protein is a functional copy of the Survival of Motor Neuron (SMN) protein, which is produced from the SMN2 gene. The SMN protein is crucial for the survival of motor neurons, the nerve cells that control muscle movement. In people with spinal muscular atrophy (SMA), a genetic disorder that causes progressive muscle weakness and loss of movement, there is a mutation in the main SMN1 gene that leads to reduced levels of functional SMN protein.
The SMN2 gene can also produce some functional SMN protein, but it mainly produces an unstable, truncated form of the protein due to a critical difference in its exon 7 splicing pattern. However, a small percentage (about 10-15%) of SMN2 transcripts can be correctly spliced and produce full-length, functional SMN protein. The amount of functional SMN protein produced from the SMN2 gene is directly related to the severity of SMA; more SMN protein production from SMN2 leads to less severe symptoms. Therefore, therapies aimed at increasing SMN2-derived SMN protein levels are being developed and tested for the treatment of SMA.
Anterior horn cells, also known as motor neurons, are a type of nerve cell located in the anterior (ventral) horn of the spinal cord's gray matter. These cells play a crucial role in initiating and regulating voluntary muscle movement by transmitting signals from the brain to the muscles via the peripheral nervous system.
Damage or degeneration of the anterior horn cells can result in various neuromuscular disorders, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS). These conditions can lead to muscle weakness, atrophy, and paralysis.
Nerve degeneration, also known as neurodegeneration, is the progressive loss of structure and function of neurons, which can lead to cognitive decline, motor impairment, and various other symptoms. This process occurs due to a variety of factors, including genetics, environmental influences, and aging. It is a key feature in several neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The degeneration can affect any part of the nervous system, leading to different symptoms depending on the location and extent of the damage.
The Survival Motor Neuron (SMN) complex is a protein complex that plays a crucial role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential components of the spliceosome involved in pre-messenger RNA (pre-mRNA) splicing. The SMN complex consists of several proteins, including the SMN protein itself, Gemins2-8, and unrip.
The SMN protein is the central component of the complex and is encoded by the SMN1 gene located on chromosome 5q13.2. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.
The SMN complex assembles in the cytoplasm and facilitates the assembly of spliceosomal snRNPs by helping to load Sm proteins onto small nuclear RNA (snRNA) molecules. Proper functioning of the SMN complex is essential for the correct splicing of pre-mRNA, and its dysfunction can lead to various developmental abnormalities and diseases, including SMA.
Medical Definition:
Superoxide dismutase (SOD) is an enzyme that catalyzes the dismutation of superoxide radicals (O2-) into oxygen (O2) and hydrogen peroxide (H2O2). This essential antioxidant defense mechanism helps protect the body's cells from damage caused by reactive oxygen species (ROS), which are produced during normal metabolic processes and can lead to oxidative stress when their levels become too high.
There are three main types of superoxide dismutase found in different cellular locations:
1. Copper-zinc superoxide dismutase (CuZnSOD or SOD1) - Present mainly in the cytoplasm of cells.
2. Manganese superoxide dismutase (MnSOD or SOD2) - Located within the mitochondrial matrix.
3. Extracellular superoxide dismutase (EcSOD or SOD3) - Found in the extracellular spaces, such as blood vessels and connective tissues.
Imbalances in SOD levels or activity have been linked to various pathological conditions, including neurodegenerative diseases, cancer, and aging-related disorders.
Atrophic muscular disorders are medical conditions that involve the progressive loss of muscle mass and weakness due to the degeneration of muscle tissue. This process occurs because of a decrease in the size or number of muscle fibers, which can be caused by various factors such as nerve damage, lack of use, or underlying diseases.
There are two main types of atrophic muscular disorders: neurogenic and myopathic. Neurogenic atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Examples of conditions that can cause neurogenic atrophy include motor neuron disease, spinal cord injury, and peripheral neuropathy.
Myopathic atrophy, on the other hand, is caused by primary muscle diseases that affect the muscle fibers themselves. Conditions such as muscular dystrophy, metabolic myopathies, and inflammatory myopathies can all lead to myopathic atrophy.
Symptoms of atrophic muscular disorders may include muscle weakness, wasting, cramping, spasms, and difficulty with movement and coordination. Treatment for these conditions depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, the damage to the muscles may be irreversible, and the goal of treatment is to manage symptoms and maintain function as much as possible.
The motor cortex is a region in the frontal lobe of the brain that is responsible for controlling voluntary movements. It is involved in planning, initiating, and executing movements of the limbs, body, and face. The motor cortex contains neurons called Betz cells, which have large cell bodies and are responsible for transmitting signals to the spinal cord to activate muscles. Damage to the motor cortex can result in various movement disorders such as hemiplegia or paralysis on one side of the body.
A fasciculation is an involuntary muscle contraction and relaxation that occurs randomly and spontaneously, causing a visible twitching of the muscle. Fasciculations can occur in any skeletal muscle of the body and are often described as feeling like a "mini-charley horse." They are generally harmless and can occur in people without any underlying neurological conditions. However, they can also be a symptom of certain neuromuscular disorders, such as amyotrophic lateral sclerosis (ALS) or motor neuron disease. In these cases, fasciculations are often accompanied by other symptoms, such as muscle weakness, atrophy, and cramping. If you are experiencing persistent or frequent fasciculations, it is important to consult with a healthcare professional for further evaluation and diagnosis.
X-linked bulbospinal neuronopathy, also known as Kennedy's disease, is a rare inherited motor neuron disorder that affects males. It is caused by a mutation in the androgen receptor (AR) gene on the X chromosome. The condition is characterized by progressive muscle weakness and atrophy, primarily affecting the bulbar muscles of the throat and tongue, as well as the limbs.
The mutation in the AR gene leads to an abnormal accumulation of the protein within nerve cells, which can ultimately result in their death. This can cause symptoms such as difficulty speaking, swallowing, and breathing, as well as muscle cramps and fasciculations (twitching). The condition typically progresses slowly over several decades.
There is no cure for X-linked bulbospinal neuronopathy, but treatments can help manage the symptoms. This may include physical therapy, speech therapy, and assistive devices to aid in breathing and swallowing.
"Gagging" is a reflexive response to an irritation or stimulation of the back of the throat, which involves involuntary contraction of the muscles at the back of the throat and sometimes accompanied by vomiting. It is a protective mechanism to prevent foreign objects from entering the lungs during swallowing. In a medical context, gagging may also refer to the use of a device or maneuver to temporarily block the upper airway as part of certain medical procedures.
Muscular atrophy is a condition characterized by a decrease in the size and mass of muscles due to lack of use, disease, or injury. This occurs when there is a disruption in the balance between muscle protein synthesis and degradation, leading to a net loss of muscle proteins. There are two main types of muscular atrophy:
1. Disuse atrophy: This type of atrophy occurs when muscles are not used or are immobilized for an extended period, such as after an injury, surgery, or prolonged bed rest. In this case, the nerves that control the muscles may still be functioning properly, but the muscles themselves waste away due to lack of use.
2. Neurogenic atrophy: This type of atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Conditions such as amyotrophic lateral sclerosis (ALS), spinal cord injuries, and peripheral neuropathies can cause neurogenic atrophy.
In both cases, the affected muscles may become weak, shrink in size, and lose their tone and mass. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, exercise, and medication to manage symptoms and improve muscle strength and function.
An axon is a long, slender extension of a neuron (a type of nerve cell) that conducts electrical impulses (nerve impulses) away from the cell body to target cells, such as other neurons or muscle cells. Axons can vary in length from a few micrometers to over a meter long and are typically surrounded by a myelin sheath, which helps to insulate and protect the axon and allows for faster transmission of nerve impulses.
Axons play a critical role in the functioning of the nervous system, as they provide the means by which neurons communicate with one another and with other cells in the body. Damage to axons can result in serious neurological problems, such as those seen in spinal cord injuries or neurodegenerative diseases like multiple sclerosis.
Afferent neurons, also known as sensory neurons, are a type of nerve cell that conducts impulses or signals from peripheral receptors towards the central nervous system (CNS), which includes the brain and spinal cord. These neurons are responsible for transmitting sensory information such as touch, temperature, pain, sound, and light to the CNS for processing and interpretation. Afferent neurons have specialized receptor endings that detect changes in the environment and convert them into electrical signals, which are then transmitted to the CNS via synapses with other neurons. Once the signals reach the CNS, they are processed and integrated with other information to produce a response or reaction to the stimulus.
TDP-43 proteinopathies refer to a group of neurodegenerative disorders characterized by the abnormal accumulation and aggregation of the TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells. The accumulated TDP-43 forms inclusions that are rich in ubiquitin and are a hallmark of these disorders.
TDP-43 is a nuclear protein involved in various cellular processes, including transcription, splicing, and transport of RNA. In TDP-43 proteinopathies, the protein undergoes post-translational modifications that lead to its mislocalization from the nucleus to the cytoplasm, where it forms aggregates.
TDP-43 proteinopathies include several neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer's disease (AD). In ALS, TDP-43 pathology is present in almost all cases, while in FTLD, it is found in about half of the cases. In AD, TDP-43 pathology is less common but still significant, particularly in patients with coexisting dementia.
TDP-43 proteinopathies are associated with various clinical manifestations depending on the specific disorder and the extent and location of TDP-43 aggregation. These manifestations include motor neuron degeneration, cognitive decline, behavioral changes, and language impairments. The underlying mechanisms leading to TDP-43 mislocalization and aggregation are not fully understood but are thought to involve genetic, environmental, and aging factors.
Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by the progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are involved in decision-making, behavior, emotion, and language. FTLD can be divided into several subtypes based on the specific clinical features and the underlying protein abnormalities.
The three main subtypes of FTLD are:
1. Behavioral variant frontotemporal dementia (bvFTD): This subtype is characterized by changes in personality, behavior, and judgment. People with bvFTD may lose their social inhibitions, become impulsive, or develop compulsive behaviors. They may also have difficulty with emotional processing and empathy.
2. Primary progressive aphasia (PPA): This subtype is characterized by the gradual deterioration of language skills. People with PPA may have difficulty speaking, understanding spoken or written language, or both. There are three subtypes of PPA: nonfluent/agrammatic variant, semantic variant, and logopenic variant.
3. Motor neuron disease (MND) with FTLD: This subtype is characterized by the degeneration of motor neurons, which are the nerve cells responsible for controlling voluntary muscle movements. People with MND with FTLD may develop symptoms of amyotrophic lateral sclerosis (ALS), such as muscle weakness, stiffness, and twitching, as well as cognitive and behavioral changes associated with FTLD.
The underlying protein abnormalities in FTLD include:
1. Tau protein: In some forms of FTLD, the tau protein accumulates and forms clumps called tangles inside nerve cells. This is also seen in Alzheimer's disease.
2. TDP-43 protein: In other forms of FTLD, the TDP-43 protein accumulates and forms clumps inside nerve cells.
3. Fused in sarcoma (FUS) protein: In a small number of cases, the FUS protein accumulates and forms clumps inside nerve cells.
FTLD is typically a progressive disorder, meaning that symptoms worsen over time. There is currently no cure for FTLD, but there are treatments available to help manage symptoms and improve quality of life.
Neurofilament proteins (NFs) are type IV intermediate filament proteins that are specific to neurons. They are the major structural components of the neuronal cytoskeleton and play crucial roles in maintaining the structural integrity, stability, and diameter of axons. Neurofilaments are composed of three subunits: light (NFL), medium (NFM), and heavy (NFH) neurofilament proteins, which differ in their molecular weights. These subunits assemble into heteropolymers to form the neurofilament core, while the C-terminal tails of NFH and NFM extend outward from the core, interacting with other cellular components and participating in various neuronal functions. Increased levels of neurofilament proteins, particularly NFL, in cerebrospinal fluid (CSF) and blood are considered biomarkers for axonal damage and neurodegeneration in several neurological disorders, such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).
Frontotemporal dementia (FTD) is a group of disorders caused by progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are associated with personality, behavior, and language.
There are three main types of FTD:
1. Behavioral variant FTD (bvFTD): This type is characterized by changes in personality, behavior, and judgment. Individuals may become socially inappropriate, emotionally indifferent, or impulsive. They may lose interest in things they used to enjoy and have difficulty with tasks that require planning and organization.
2. Primary progressive aphasia (PPA): This type affects language abilities. There are two main subtypes of PPA: semantic dementia and progressive nonfluent aphasia. Semantic dementia is characterized by difficulty understanding words and objects, while progressive nonfluent aphasia is characterized by problems with speech production and articulation.
3. Motor neuron disease (MND) associated FTD: Some individuals with FTD may also develop motor neuron disease, which affects the nerves that control muscle movement. This can lead to weakness, stiffness, and wasting of muscles, as well as difficulty swallowing and speaking.
FTD is a degenerative disorder, meaning that symptoms get worse over time. There is no cure for FTD, but there are treatments available to help manage symptoms and improve quality of life. The exact cause of FTD is not known, but it is believed to be related to abnormalities in certain proteins in the brain. In some cases, FTD may run in families and be caused by genetic mutations.
Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.
EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.
EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.
Toxocariasis is a parasitic infection caused by the roundworms Toxocara canis or Toxocara cati, which are found in the intestines of dogs and cats. Humans become infected through the accidental ingestion of infective eggs from contaminated soil, water, or food. The larvae hatch in the small intestine and migrate to various tissues, including the liver, lungs, eyes, and brain, where they can cause inflammation and damage.
The symptoms of toxocariasis depend on the organs involved and may include fever, cough, wheezing, rash, abdominal pain, or eye inflammation. In severe cases, it can lead to blindness or neurological problems. The diagnosis is usually made based on clinical signs, epidemiological data, and laboratory tests such as serology or biopsy. Treatment typically involves anti-parasitic medications such as albendazole or mebendazole, along with supportive care for any organ involvement. Prevention measures include good hygiene practices, avoiding contact with dog and cat feces, and washing fruits and vegetables before eating.
Beta-Hexosaminidase beta chain is a subunit of the beta-Hexosaminidase enzyme, which is responsible for breaking down complex lipids called gangliosides in the body. Specifically, it helps to break down a type of ganglioside called GM2 ganglioside into simpler components. Defects in this enzyme can lead to a group of genetic disorders known as the GM2 gangliosidoses, which include Tay-Sachs disease and Sandhoff disease. These conditions are characterized by the accumulation of GM2 gangliosides in various tissues, particularly in the nervous system, leading to progressive neurological deterioration.
Evoked potentials, motor, are a category of tests used in clinical neurophysiology to measure the electrical activity generated by the nervous system in response to a stimulus that specifically activates the motor pathways. These tests can help assess the integrity and function of the motor neurons, which are responsible for controlling voluntary muscle movements.
During a motor evoked potentials test, electrodes are placed on the scalp or directly on the surface of the brain or spinal cord. A stimulus is then applied to the motor cortex or peripheral nerves, causing the muscles to contract. The resulting electrical signals are recorded and analyzed to evaluate the conduction velocity, amplitude, and latency of the motor responses.
Motor evoked potentials tests can be useful in diagnosing various neurological conditions, such as multiple sclerosis, spinal cord injuries, and motor neuron diseases. They can also help monitor the progression of these conditions and assess the effectiveness of treatments.
FUS (Fused in Sarcoma) is a protein that in humans is encoded by the FUS gene. It is primarily located in the nucleus of the cell, but can also be found in the cytoplasm. FUS belongs to the family of RNA-binding proteins, which means it has the ability to bind to RNA molecules and play a role in post-transcriptional regulation of gene expression.
FUS has several functions, including:
1. Transcriptional regulation: FUS can interact with transcription factors and modulate the transcription of genes.
2. mRNA processing: FUS is involved in various aspects of mRNA processing, such as splicing, transport, localization, and stability.
3. DNA repair: FUS plays a role in DNA damage response and repair mechanisms.
4. Translational regulation: FUS can also regulate translation by interacting with ribosomes and other translational factors.
Mutations in the FUS gene have been associated with several neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). These mutations often lead to an abnormal cytoplasmic accumulation of FUS protein, which can form aggregates and contribute to the pathogenesis of these diseases.
Pharyngostomy is not a commonly used medical term, but it generally refers to the surgical creation of an opening or stoma into the pharynx. This procedure may be performed for various reasons, such as to provide an alternative route for feeding and drainage in patients with swallowing difficulties or obstructions in the upper digestive tract. However, the specific medical definition and usage of this term can vary, so it's always best to consult a reliable medical source or healthcare professional for accurate information.
Riluzole is a prescription medication that is primarily used in the treatment of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. It is a benzothiazole derivative that acts as a glutamate antagonist, reducing the release of the neurotransmitter glutamate in the brain and spinal cord.
Glutamate is an important excitatory neurotransmitter in the central nervous system, but excessive levels of glutamate can lead to neuronal damage and death, which is believed to contribute to the progression of ALS. By reducing glutamate levels, Riluzole may help slow down the degeneration of motor neurons and prolong survival in people with ALS.
Riluzole is available as a tablet or liquid formulation and is typically taken twice daily. Common side effects include dizziness, gastrointestinal symptoms such as nausea and vomiting, and liver enzyme elevations. Riluzole should be used with caution in patients with liver impairment and should not be used in those with a history of hypersensitivity to the drug or its components.
Pyrrolidonecarboxylic acid, also known as Proline or Prolinic acid, is an organic compound with the formula N-pyrrolidinecarboxylic acid. It is a cyclic amino acid, which means that its side chain is bonded to the rest of the molecule in a ring structure.
Proline is an important constituent of many proteins and plays a crucial role in maintaining the structural integrity of the protein. It is classified as a non-essential amino acid because it can be synthesized by the human body from other amino acids, such as glutamic acid.
Pyrrolidonecarboxylic acid has a variety of uses in medicine and industry, including as a chiral auxiliary in organic synthesis, a building block for pharmaceuticals, and a component in cosmetics and personal care products. It is also used as a buffering agent and a stabilizer in various medical and industrial applications.
Inclusion bodies are abnormal, intracellular accumulations or aggregations of various misfolded proteins, protein complexes, or other materials within the cells of an organism. They can be found in various tissues and cell types and are often associated with several pathological conditions, including infectious diseases, neurodegenerative disorders, and genetic diseases.
Inclusion bodies can vary in size, shape, and location depending on the specific disease or condition. Some inclusion bodies have a characteristic appearance under the microscope, such as eosinophilic (pink) staining with hematoxylin and eosin (H&E) histological stain, while others may require specialized stains or immunohistochemical techniques to identify the specific misfolded proteins involved.
Examples of diseases associated with inclusion bodies include:
1. Infectious diseases: Some viral infections, such as HIV, hepatitis B and C, and herpes simplex virus, can lead to the formation of inclusion bodies within infected cells.
2. Neurodegenerative disorders: Several neurodegenerative diseases are characterized by the presence of inclusion bodies, including Alzheimer's disease (amyloid-beta plaques and tau tangles), Parkinson's disease (Lewy bodies), Huntington's disease (Huntingtin aggregates), and amyotrophic lateral sclerosis (TDP-43 and SOD1 inclusions).
3. Genetic diseases: Certain genetic disorders, such as Danon disease, neuronal intranuclear inclusion disease, and some lysosomal storage disorders, can also present with inclusion bodies due to the accumulation of abnormal proteins or metabolic products within cells.
The exact role of inclusion bodies in disease pathogenesis remains unclear; however, they are often associated with cellular dysfunction, oxidative stress, and increased inflammation, which can contribute to disease progression and neurodegeneration.
Neural conduction is the process by which electrical signals, known as action potentials, are transmitted along the axon of a neuron (nerve cell) to transmit information between different parts of the nervous system. This electrical impulse is generated by the movement of ions across the neuronal membrane, and it propagates down the length of the axon until it reaches the synapse, where it can then stimulate the release of neurotransmitters to communicate with other neurons or target cells. The speed of neural conduction can vary depending on factors such as the diameter of the axon, the presence of myelin sheaths (which act as insulation and allow for faster conduction), and the temperature of the environment.
Electric injuries refer to damage to the body caused by exposure to electrical energy. This can occur when a person comes into contact with an electrical source, such as a power line or outlet, and the electrical current passes through the body. The severity of the injury depends on various factors, including the voltage and amperage of the electrical current, the duration of exposure, and the path the current takes through the body.
Electric injuries can cause a range of symptoms and complications, including burns, cardiac arrest, muscle damage, nerve damage, and fractures or dislocations (if the victim is thrown by the electrical shock). In some cases, electric injuries can be fatal. Treatment typically involves supportive care to stabilize the patient's vital signs, as well as specific interventions to address any complications that may have arisen as a result of the injury. Prevention measures include following safety guidelines when working with electricity and being aware of potential electrical hazards in one's environment.
Deglutition disorders, also known as swallowing disorders, are conditions that affect the ability to move food or liquids from the mouth to the stomach safely and efficiently. These disorders can occur at any stage of the swallowing process, which includes oral preparation (chewing and manipulating food in the mouth), pharyngeal phase (activating muscles and structures in the throat to move food toward the esophagus), and esophageal phase (relaxing and contracting the esophagus to propel food into the stomach).
Symptoms of deglutition disorders may include coughing or choking during or after eating, difficulty initiating a swallow, food sticking in the throat or chest, regurgitation, unexplained weight loss, and aspiration (inhaling food or liquids into the lungs), which can lead to pneumonia.
Deglutition disorders can be caused by various factors, such as neurological conditions (e.g., stroke, Parkinson's disease, multiple sclerosis), structural abnormalities (e.g., narrowing or blockage of the esophagus), muscle weakness or dysfunction, and cognitive or behavioral issues. Treatment for deglutition disorders may involve dietary modifications, swallowing exercises, medications, or surgical interventions, depending on the underlying cause and severity of the condition.
Pick's disease, also known as Frontotemporal dementia (FTD), is a rare form of degenerative brain disorder that affects the frontal and temporal lobes of the brain. It is characterized by progressive shrinkage (atrophy) of these regions, resulting in a decline in cognitive abilities, behavioral changes, and language difficulties.
The medical definition of Pick's disease includes the following key features:
1. Progressive deterioration of cognitive functions, including memory, judgment, and problem-solving skills.
2. Changes in personality, emotional blunting, and loss of social inhibitions.
3. Language difficulties, such as difficulty with word finding, grammar, and comprehension.
4. Presence of abnormal protein deposits called Pick bodies or Pick cells in the affected brain regions.
5. Exclusion of other causes of dementia, such as Alzheimer's disease, vascular dementia, or Lewy body dementia.
Pick's disease typically affects people between the ages of 40 and 60, and it tends to progress more rapidly than other forms of dementia. Currently, there is no cure for Pick's disease, and treatment focuses on managing symptoms and improving quality of life.
"Motor activity" is a general term used in the field of medicine and neuroscience to refer to any kind of physical movement or action that is generated by the body's motor system. The motor system includes the brain, spinal cord, nerves, and muscles that work together to produce movements such as walking, talking, reaching for an object, or even subtle actions like moving your eyes.
Motor activity can be voluntary, meaning it is initiated intentionally by the individual, or involuntary, meaning it is triggered automatically by the nervous system without conscious control. Examples of voluntary motor activity include deliberately lifting your arm or kicking a ball, while examples of involuntary motor activity include heartbeat, digestion, and reflex actions like jerking your hand away from a hot stove.
Abnormalities in motor activity can be a sign of neurological or muscular disorders, such as Parkinson's disease, cerebral palsy, or multiple sclerosis. Assessment of motor activity is often used in the diagnosis and treatment of these conditions.
Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.
The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.
Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.
A chronic brain injury, also known as a traumatic brain injury (TBI), is an injury to the brain that results in long-term or permanent impairment. It is caused by a significant blow to the head or body, or by a penetrating head injury that disrupts the normal functioning of the brain.
Chronic brain injuries can result in a wide range of physical, cognitive, and emotional symptoms, including:
* Persistent headaches or migraines
* Difficulty with memory, concentration, and decision-making
* Changes in mood, such as depression, anxiety, or irritability
* Difficulty with communication, including speaking and understanding language
* Sensory problems, such as vision or hearing loss
* Seizures
* Balance and coordination problems
* Weakness or paralysis on one side of the body
These symptoms can vary in severity and may not be immediately apparent following the initial injury. In some cases, they may not become apparent until days, weeks, or even months after the injury.
Chronic brain injuries are often classified as mild, moderate, or severe based on the level of consciousness loss and the presence of other neurological deficits. Mild TBIs, also known as concussions, may not cause long-term impairment, while moderate to severe TBIs can result in significant disability and require ongoing rehabilitation and support.
Treatment for chronic brain injuries typically involves a multidisciplinary approach that includes medical management of symptoms, physical therapy, occupational therapy, speech and language therapy, and counseling or psychotherapy. In some cases, surgery may be necessary to address structural damage to the brain.
Lathyrism is a neurological disorder caused by the consumption of large amounts of food sources containing a toxin called β-N-oxalyl-L-α,β-diaminopropionic acid (ODAP), which is found in certain legumes of the genus Lathyrus, particularly in grass peas (L. sativus). This disorder is characterized by the irreversible spastic paralysis of lower limbs due to damage in the upper motor neurons of the spinal cord. The onset and severity of lathyrism depend on the amount and duration of ODAP-containing food intake, with higher doses and longer exposure leading to more severe symptoms. Lathyrism is more prevalent in regions where grass peas are a staple food and access to diverse nutrition is limited.
DEAD-Box Protein 20 (DDX20) is a member of the DEAD-box protein family, which are named for the conserved amino acid sequence "Asp-Glu-Ala-Asp" within their helicase domains. These proteins are involved in various aspects of RNA metabolism, including splicing, transport, translation, and degradation.
DDX20, also known as p68 or DP103, is a DNA/RNA helicase that plays a role in transcriptional regulation, pre-mRNA processing, and RNA export. It has been implicated in several cellular processes, including cell cycle progression, differentiation, and apoptosis. DDX20 can interact with various proteins involved in transcription, such as RNA polymerase II and the basal transcription factor TFIID, as well as components of the spliceosome and other RNA-binding proteins.
Mutations or dysregulation of DDX20 have been associated with several human diseases, including cancer, neurodevelopmental disorders, and autoimmune diseases. For example, increased expression of DDX20 has been observed in various types of cancer, such as breast, lung, and ovarian cancers, and may contribute to tumor progression by promoting cell proliferation and inhibiting apoptosis. Additionally, mutations in the gene encoding DDX20 have been identified in patients with intellectual disability, epilepsy, and autism spectrum disorder.
Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.
The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.
Examples of animal disease models include:
1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.
Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.
The Ulnar nerve is one of the major nerves in the forearm and hand, which provides motor function to the majority of the intrinsic muscles of the hand (except for those innervated by the median nerve) and sensory innervation to the little finger and half of the ring finger. It originates from the brachial plexus, passes through the cubital tunnel at the elbow, and continues down the forearm, where it runs close to the ulna bone. The ulnar nerve then passes through the Guyon's canal in the wrist before branching out to innervate the hand muscles and provide sensation to the skin on the little finger and half of the ring finger.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:
1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).
2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.
3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.
4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.
5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.
6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.
7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.
Spinal cord diseases refer to a group of conditions that affect the spinal cord, which is a part of the central nervous system responsible for transmitting messages between the brain and the rest of the body. These diseases can cause damage to the spinal cord, leading to various symptoms such as muscle weakness, numbness, pain, bladder and bowel dysfunction, and difficulty with movement and coordination.
Spinal cord diseases can be congenital or acquired, and they can result from a variety of causes, including infections, injuries, tumors, degenerative conditions, autoimmune disorders, and genetic factors. Some examples of spinal cord diseases include multiple sclerosis, spina bifida, spinal cord injury, herniated discs, spinal stenosis, and motor neuron diseases such as amyotrophic lateral sclerosis (ALS).
The treatment for spinal cord diseases varies depending on the underlying cause and severity of the condition. Treatment options may include medication, physical therapy, surgery, and rehabilitation. In some cases, the damage to the spinal cord may be irreversible, leading to permanent disability or paralysis.
The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:
1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.
The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.
Peripheral nerves are nerve fibers that transmit signals between the central nervous system (CNS, consisting of the brain and spinal cord) and the rest of the body. These nerves convey motor, sensory, and autonomic information, enabling us to move, feel, and respond to changes in our environment. They form a complex network that extends from the CNS to muscles, glands, skin, and internal organs, allowing for coordinated responses and functions throughout the body. Damage or injury to peripheral nerves can result in various neurological symptoms, such as numbness, weakness, or pain, depending on the type and severity of the damage.
The neuromuscular junction (NMJ) is the specialized synapse or chemical communication point, where the motor neuron's nerve terminal (presynaptic element) meets the muscle fiber's motor end plate (postsynaptic element). This junction plays a crucial role in controlling muscle contraction and relaxation.
At the NMJ, the neurotransmitter acetylcholine is released from the presynaptic nerve terminal into the synaptic cleft, following an action potential. Acetylcholine then binds to nicotinic acetylcholine receptors on the postsynaptic membrane of the muscle fiber, leading to the generation of an end-plate potential. If sufficient end-plate potentials are generated and summate, they will trigger an action potential in the muscle fiber, ultimately causing muscle contraction.
Dysfunction at the neuromuscular junction can result in various neuromuscular disorders, such as myasthenia gravis, where autoantibodies attack acetylcholine receptors, leading to muscle weakness and fatigue.
An action potential is a brief electrical signal that travels along the membrane of a nerve cell (neuron) or muscle cell. It is initiated by a rapid, localized change in the permeability of the cell membrane to specific ions, such as sodium and potassium, resulting in a rapid influx of sodium ions and a subsequent efflux of potassium ions. This ion movement causes a brief reversal of the electrical potential across the membrane, which is known as depolarization. The action potential then propagates along the cell membrane as a wave, allowing the electrical signal to be transmitted over long distances within the body. Action potentials play a crucial role in the communication and functioning of the nervous system and muscle tissue.
Sandhoff disease is a rare inherited disorder that affects the nervous system. It's a type of GM2 gangliosidosis, which is a group of conditions characterized by the body's inability to break down certain fats (lipids) called gangliosides.
In Sandhoff disease, deficiencies in the enzymes hexosaminidase A and B lead to an accumulation of GM2 ganglioside in various cells, particularly in nerve cells of the brain. This accumulation results in progressive damage to the nervous system.
The symptoms of Sandhoff disease typically appear between 6 months and 2 years of age and can include developmental delay, seizures, an exaggerated startle response, muscle weakness, loss of motor skills, and vision and hearing loss. The condition is often fatal by around age 3. It's caused by mutations in the HEXB gene, and it's inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
Marchiafava-Bignami Disease is a rare neurological disorder that primarily affects the central portion of the brain called the corpus callosum, which is responsible for connecting the two hemispheres of the brain. This disease is characterized by degeneration and necrosis (death of cells) of the corpus callosum, leading to various neurological symptoms.
The condition has been predominantly associated with chronic alcoholism, although it has also been reported in non-alcoholic individuals. It can present acutely or subacutely, causing a wide range of symptoms such as mental status changes, seizures, speech and gait disturbances, and various other motor and sensory abnormalities.
The exact cause of Marchiafava-Bignami Disease remains unclear; however, it is thought to be related to nutritional deficiencies, particularly thiamine (vitamin B1) deficiency, which is common in alcoholics. Diagnosis typically involves neuroimaging techniques like MRI and CT scans, along with clinical evaluation. Treatment usually includes supportive care, thiamine supplementation, and abstinence from alcohol. The prognosis for this condition varies but can be poor if not diagnosed and treated promptly.
Transgenic rats are genetically modified rats that have incorporated foreign DNA (transgene) into their own genome. This is typically done through the use of recombinant DNA techniques in the laboratory. The transgene can come from any species, including other mammals, plants, or even bacteria. Once the transgene is introduced into the rat's embryonic cells, it becomes a permanent part of the rat's genetic makeup and is passed on to its offspring.
Transgenic rats are used in biomedical research as models for studying human diseases, developing new therapies, and testing the safety and efficacy of drugs. They offer several advantages over traditional laboratory rats, including the ability to manipulate specific genes, study gene function and regulation, and investigate the underlying mechanisms of disease.
Some common applications of transgenic rats in research include:
1. Modeling human diseases: Transgenic rats can be engineered to develop symptoms and characteristics of human diseases, such as cancer, diabetes, Alzheimer's, and Parkinson's. This allows researchers to study the disease progression, test new treatments, and evaluate their effectiveness.
2. Gene function and regulation: By introducing specific genes into rats, scientists can investigate their role in various biological processes, such as development, aging, and metabolism. They can also study how genes are regulated and how they interact with each other.
3. Drug development and testing: Transgenic rats can be used to test the safety and efficacy of new drugs before they are tested in humans. By studying the effects of drugs on transgenic rats, researchers can gain insights into their potential benefits and risks.
4. Toxicology studies: Transgenic rats can be used to study the toxicity of chemicals, pollutants, and other substances. This helps ensure that new products and treatments are safe for human use.
In summary, transgenic rats are genetically modified rats that have incorporated foreign DNA into their own genome. They are widely used in biomedical research to model human diseases, study gene function and regulation, develop new therapies, and test the safety and efficacy of drugs.
A neurological examination is a series of tests used to evaluate the functioning of the nervous system, including both the central nervous system (the brain and spinal cord) and peripheral nervous system (the nerves that extend from the brain and spinal cord to the rest of the body). It is typically performed by a healthcare professional such as a neurologist or a primary care physician with specialized training in neurology.
During a neurological examination, the healthcare provider will assess various aspects of neurological function, including:
1. Mental status: This involves evaluating a person's level of consciousness, orientation, memory, and cognitive abilities.
2. Cranial nerves: There are 12 cranial nerves that control functions such as vision, hearing, smell, taste, and movement of the face and neck. The healthcare provider will test each of these nerves to ensure they are functioning properly.
3. Motor function: This involves assessing muscle strength, tone, coordination, and reflexes. The healthcare provider may ask the person to perform certain movements or tasks to evaluate these functions.
4. Sensory function: The healthcare provider will test a person's ability to feel different types of sensations, such as touch, pain, temperature, vibration, and proprioception (the sense of where your body is in space).
5. Coordination and balance: The healthcare provider may assess a person's ability to perform coordinated movements, such as touching their finger to their nose or walking heel-to-toe.
6. Reflexes: The healthcare provider will test various reflexes throughout the body using a reflex hammer.
The results of a neurological examination can help healthcare providers diagnose and monitor conditions that affect the nervous system, such as stroke, multiple sclerosis, Parkinson's disease, or peripheral neuropathy.
The cricoid cartilage is a ring-like piece of cartilage that forms the lower part of the larynx, or voice box. It is located in the front portion of the neck, and lies just below the thyroid cartilage, which is the largest cartilage in the larynx and forms the Adam's apple.
The cricoid cartilage serves as a attachment site for several important structures in the neck, including the vocal cords and the trachea (windpipe). It plays an important role in protecting the airway during swallowing by providing a stable platform against which the food pipe (esophagus) can open and close.
In medical procedures such as rapid sequence intubation, the cricoid cartilage may be pressed downward to compress the esophagus and help prevent stomach contents from entering the airway during intubation. This maneuver is known as the "cricoid pressure" or "Sellick's maneuver."
Axonal transport is the controlled movement of materials and organelles within axons, which are the nerve fibers of neurons (nerve cells). This intracellular transport system is essential for maintaining the structural and functional integrity of axons, particularly in neurons with long axonal processes. There are two types of axonal transport: anterograde transport, which moves materials from the cell body toward the synaptic terminals, and retrograde transport, which transports materials from the synaptic terminals back to the cell body. Anterograde transport is typically slower than retrograde transport and can be divided into fast and slow components based on velocity. Fast anterograde transport moves vesicles containing neurotransmitters and their receptors, as well as mitochondria and other organelles, at speeds of up to 400 mm/day. Slow anterograde transport moves cytoskeletal elements, proteins, and RNA at speeds of 1-10 mm/day. Retrograde transport is primarily responsible for recycling membrane components, removing damaged organelles, and transmitting signals from the axon terminal to the cell body. Dysfunctions in axonal transport have been implicated in various neurodegenerative disorders, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS).
Dementia is a broad term that describes a decline in cognitive functioning, including memory, language, problem-solving, and judgment, severe enough to interfere with daily life. It is not a specific disease but rather a group of symptoms that may be caused by various underlying diseases or conditions. Alzheimer's disease is the most common cause of dementia, accounting for 60-80% of cases. Other causes include vascular dementia, Lewy body dementia, frontotemporal dementia, and Huntington's disease.
The symptoms of dementia can vary widely depending on the cause and the specific areas of the brain that are affected. However, common early signs of dementia may include:
* Memory loss that affects daily life
* Difficulty with familiar tasks
* Problems with language or communication
* Difficulty with visual and spatial abilities
* Misplacing things and unable to retrace steps
* Decreased or poor judgment
* Withdrawal from work or social activities
* Changes in mood or behavior
Dementia is a progressive condition, meaning that symptoms will gradually worsen over time. While there is currently no cure for dementia, early diagnosis and treatment can help slow the progression of the disease and improve quality of life for those affected.
DNA repeat expansion is a genetic alteration in which a particular sequence of DNA base pairs is repeated multiple times. In normal genes, these repeats are relatively short and stable, but in certain diseases, the number of repeats can expand beyond a threshold, leading to changes in the structure or function of the gene. This type of mutation is often associated with neurological and neuromuscular disorders, such as Huntington's disease, myotonic dystrophy, and fragile X syndrome. The expanded repeats can also be unstable and may increase in size over generations, leading to more severe symptoms or earlier age of onset.
Paralysis is a loss of muscle function in part or all of your body. It can be localized, affecting only one specific area, or generalized, impacting multiple areas or even the entire body. Paralysis often occurs when something goes wrong with the way messages pass between your brain and muscles. In most cases, paralysis is caused by damage to the nervous system, especially the spinal cord. Other causes include stroke, trauma, infections, and various neurological disorders.
It's important to note that paralysis doesn't always mean a total loss of movement or feeling. Sometimes, it may just cause weakness or numbness in the affected area. The severity and extent of paralysis depend on the underlying cause and the location of the damage in the nervous system.
Spinal muscular atrophies (SMAs) of childhood are a group of inherited neuromuscular disorders characterized by degeneration and loss of lower motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The severity and age of onset can vary significantly, with some forms presenting in infancy and others in later childhood or even adulthood.
The most common form of SMA is 5q autosomal recessive SMA, also known as survival motor neuron (SMN) disease, which results from mutations in the SMN1 gene. The severity of this form can range from severe (type I or Werdnig-Hoffmann disease), intermediate (type II or chronic infantile neurodegenerative disorder), to mild (type III or Kugelberg-Welander disease).
Type I SMA is the most severe form, with onset before 6 months of age and rapid progression leading to death within the first two years of life if left untreated. Type II SMA has an onset between 6 and 18 months of age, with affected children never achieving the ability to walk independently. Type III SMA has a later onset, typically after 18 months of age, and is characterized by a slower progression, allowing for the ability to walk unaided, although mobility may be lost over time.
Other forms of childhood-onset SMA include autosomal dominant distal SMA, X-linked SMA, and spinal bulbar muscular atrophy (SBMA or Kennedy's disease). These forms have distinct genetic causes and clinical presentations.
In general, SMAs are characterized by muscle weakness, hypotonia, fasciculations, tongue atrophy, and depressed or absent deep tendon reflexes. Respiratory and nutritional support is often required in more severe cases. Recent advances in gene therapy have led to the development of disease-modifying treatments for some forms of SMA.
Neurophysiological recruitment refers to the phenomenon where there is an increase in the number of neurons or nerve fibers involved in generating a response to a stimulus. This can occur due to various physiological or pathological conditions that affect the nervous system. In a healthy nervous system, recruitment allows for the gradual and controlled activation of muscles during movement, with more nerve fibers being recruited as force is needed. However, in certain neurological disorders such as motor neuron disease, there may be abnormal neurophysiological recruitment patterns due to the loss of lower motor neurons, leading to weakness and muscle wasting. Neurophysiological tests like electromyography (EMG) can be used to assess recruitment patterns and help diagnose neurological conditions.
Electric stimulation, also known as electrical nerve stimulation or neuromuscular electrical stimulation, is a therapeutic treatment that uses low-voltage electrical currents to stimulate nerves and muscles. It is often used to help manage pain, promote healing, and improve muscle strength and mobility. The electrical impulses can be delivered through electrodes placed on the skin or directly implanted into the body.
In a medical context, electric stimulation may be used for various purposes such as:
1. Pain management: Electric stimulation can help to block pain signals from reaching the brain and promote the release of endorphins, which are natural painkillers produced by the body.
2. Muscle rehabilitation: Electric stimulation can help to strengthen muscles that have become weak due to injury, illness, or surgery. It can also help to prevent muscle atrophy and improve range of motion.
3. Wound healing: Electric stimulation can promote tissue growth and help to speed up the healing process in wounds, ulcers, and other types of injuries.
4. Urinary incontinence: Electric stimulation can be used to strengthen the muscles that control urination and reduce symptoms of urinary incontinence.
5. Migraine prevention: Electric stimulation can be used as a preventive treatment for migraines by applying electrical impulses to specific nerves in the head and neck.
It is important to note that electric stimulation should only be administered under the guidance of a qualified healthcare professional, as improper use can cause harm or discomfort.
Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.
The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.
Genetically modified animals (GMAs) are those whose genetic makeup has been altered using biotechnological techniques. This is typically done by introducing one or more genes from another species into the animal's genome, resulting in a new trait or characteristic that does not naturally occur in that species. The introduced gene is often referred to as a transgene.
The process of creating GMAs involves several steps:
1. Isolation: The desired gene is isolated from the DNA of another organism.
2. Transfer: The isolated gene is transferred into the target animal's cells, usually using a vector such as a virus or bacterium.
3. Integration: The transgene integrates into the animal's chromosome, becoming a permanent part of its genetic makeup.
4. Selection: The modified cells are allowed to multiply, and those that contain the transgene are selected for further growth and development.
5. Breeding: The genetically modified individuals are bred to produce offspring that carry the desired trait.
GMAs have various applications in research, agriculture, and medicine. In research, they can serve as models for studying human diseases or testing new therapies. In agriculture, GMAs can be developed to exhibit enhanced growth rates, improved disease resistance, or increased nutritional value. In medicine, GMAs may be used to produce pharmaceuticals or other therapeutic agents within their bodies.
Examples of genetically modified animals include mice with added genes for specific proteins that make them useful models for studying human diseases, goats that produce a human protein in their milk to treat hemophilia, and pigs with enhanced resistance to certain viruses that could potentially be used as organ donors for humans.
It is important to note that the use of genetically modified animals raises ethical concerns related to animal welfare, environmental impact, and potential risks to human health. These issues must be carefully considered and addressed when developing and implementing GMA technologies.
Hereditary Spastic Paraplegia (HSP) is a group of genetic disorders that affect the long motor neurons in the spinal cord, leading to lower limb spasticity and weakness. It is characterized by progressive stiffness and contraction of the leg muscles, resulting in difficulty with walking and balance.
The symptoms of HSP typically begin in childhood or early adulthood and worsen over time. The severity of the condition can vary widely, even within the same family, depending on the specific genetic mutation involved. In addition to lower limb spasticity, some individuals with HSP may also experience bladder dysfunction, sensory loss, or other neurological symptoms.
HSP is inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation involved. There are over 70 different genes that have been identified as causing HSP, and genetic testing can be used to confirm the diagnosis and identify the specific genetic mutation responsible.
Treatment for HSP is focused on managing symptoms and maintaining mobility. Physical therapy, orthotics, and medications such as baclofen or tizanidine may be used to help reduce muscle spasticity and improve mobility. In some cases, surgery may be necessary to relieve muscle contractures or other complications.
A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.
Gastrostomy is a surgical procedure that creates an opening through the abdominal wall into the stomach. This opening, called a stoma or gastrostomy tract, allows for the passage of a tube (gastrostomy tube) that can be used to provide enteral nutrition and hydration directly into the stomach when a person is unable to consume food or fluids by mouth due to various medical conditions such as dysphagia, neurological disorders, or head and neck cancers.
Gastrostomy tubes come in different types and sizes, including percutaneous endoscopic gastrostomy (PEG) tubes, laparoscopic gastrostomy tubes, and open surgical gastrostomy tubes. The choice of the procedure depends on various factors such as the patient's medical condition, anatomy, and overall health status.
The primary purpose of a gastrostomy is to ensure adequate nutrition and hydration for individuals who have difficulty swallowing or are unable to consume enough food or fluids by mouth to meet their nutritional needs. It can also help prevent complications associated with prolonged fasting, such as malnutrition, dehydration, and weight loss.
Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.
Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.
Spinal nerve roots are the initial parts of spinal nerves that emerge from the spinal cord through the intervertebral foramen, which are small openings between each vertebra in the spine. These nerve roots carry motor, sensory, and autonomic fibers to and from specific regions of the body. There are 31 pairs of spinal nerve roots in total, with 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal pair. Each root has a dorsal (posterior) and ventral (anterior) ramus that branch off to form the peripheral nervous system. Irritation or compression of these nerve roots can result in pain, numbness, weakness, or loss of reflexes in the affected area.
"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.
Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.
It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.
Cell death is the process by which cells cease to function and eventually die. There are several ways that cells can die, but the two most well-known and well-studied forms of cell death are apoptosis and necrosis.
Apoptosis is a programmed form of cell death that occurs as a normal and necessary process in the development and maintenance of healthy tissues. During apoptosis, the cell's DNA is broken down into small fragments, the cell shrinks, and the membrane around the cell becomes fragmented, allowing the cell to be easily removed by phagocytic cells without causing an inflammatory response.
Necrosis, on the other hand, is a form of cell death that occurs as a result of acute tissue injury or overwhelming stress. During necrosis, the cell's membrane becomes damaged and the contents of the cell are released into the surrounding tissue, causing an inflammatory response.
There are also other forms of cell death, such as autophagy, which is a process by which cells break down their own organelles and proteins to recycle nutrients and maintain energy homeostasis, and pyroptosis, which is a form of programmed cell death that occurs in response to infection and involves the activation of inflammatory caspases.
Cell death is an important process in many physiological and pathological processes, including development, tissue homeostasis, and disease. Dysregulation of cell death can contribute to the development of various diseases, including cancer, neurodegenerative disorders, and autoimmune diseases.
In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.
For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.
Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.
Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.
Molecular motor proteins are a type of protein that convert chemical energy into mechanical work at the molecular level. They play a crucial role in various cellular processes, such as cell division, muscle contraction, and intracellular transport. There are several types of molecular motor proteins, including myosin, kinesin, and dynein.
Myosin is responsible for muscle contraction and movement along actin filaments in the cytoplasm. Kinesin and dynein are involved in intracellular transport along microtubules, moving cargo such as vesicles, organelles, and mRNA to various destinations within the cell.
These motor proteins move in a stepwise fashion, with each step driven by the hydrolysis of adenosine triphosphate (ATP) into adenosine diphosphate (ADP) and inorganic phosphate (Pi). The directionality and speed of movement are determined by the structure and regulation of the motor proteins, as well as the properties of the tracks along which they move.
C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.
The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.
C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.
One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.
Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
"Cell count" is a medical term that refers to the process of determining the number of cells present in a given volume or sample of fluid or tissue. This can be done through various laboratory methods, such as counting individual cells under a microscope using a specialized grid called a hemocytometer, or using automated cell counters that use light scattering and electrical impedance techniques to count and classify different types of cells.
Cell counts are used in a variety of medical contexts, including hematology (the study of blood and blood-forming tissues), microbiology (the study of microscopic organisms), and pathology (the study of diseases and their causes). For example, a complete blood count (CBC) is a routine laboratory test that includes a white blood cell (WBC) count, red blood cell (RBC) count, hemoglobin level, hematocrit value, and platelet count. Abnormal cell counts can indicate the presence of various medical conditions, such as infections, anemia, or leukemia.
A synapse is a structure in the nervous system that allows for the transmission of signals from one neuron (nerve cell) to another. It is the point where the axon terminal of one neuron meets the dendrite or cell body of another, and it is here that neurotransmitters are released and received. The synapse includes both the presynaptic and postsynaptic elements, as well as the cleft between them.
At the presynaptic side, an action potential travels down the axon and triggers the release of neurotransmitters into the synaptic cleft through exocytosis. These neurotransmitters then bind to receptors on the postsynaptic side, which can either excite or inhibit the receiving neuron. The strength of the signal between two neurons is determined by the number and efficiency of these synapses.
Synapses play a crucial role in the functioning of the nervous system, allowing for the integration and processing of information from various sources. They are also dynamic structures that can undergo changes in response to experience or injury, which has important implications for learning, memory, and recovery from neurological disorders.
Thyrotropin-Releasing Hormone (TRH) is a tripeptide hormone that is produced and released by the hypothalamus in the brain. Its main function is to regulate the release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. TRH acts on the pituitary gland to stimulate the synthesis and secretion of TSH, which then stimulates the thyroid gland to produce and release thyroid hormones (triiodothyronine (T3) and thyroxine (T4)) into the bloodstream.
TRH is a tripeptide amino acid sequence with the structure of pGlu-His-Pro-NH2, and it is synthesized as a larger precursor molecule called preprothyrotropin-releasing hormone (preproTRH) in the hypothalamus. PreproTRH undergoes post-translational processing to produce TRH, which is then stored in secretory vesicles and released into the hypophyseal portal system, where it travels to the anterior pituitary gland and binds to TRH receptors on thyrotroph cells.
In addition to its role in regulating TSH release, TRH has been shown to have other physiological functions, including modulation of feeding behavior, body temperature, and neurotransmitter release. Dysregulation of the TRH-TSH axis can lead to various thyroid disorders, such as hypothyroidism or hyperthyroidism.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
In invertebrate biology, ganglia are clusters of neurons that function as a centralized nervous system. They can be considered as the equivalent to a vertebrate's spinal cord and brain. Ganglia serve to process sensory information, coordinate motor functions, and integrate various neural activities within an invertebrate organism.
Invertebrate ganglia are typically found in animals such as arthropods (insects, crustaceans), annelids (earthworms), mollusks (snails, squids), and cnidarians (jellyfish). The structure of the ganglia varies among different invertebrate groups.
For example, in arthropods, the central nervous system consists of a pair of connected ganglia called the supraesophageal ganglion or brain, and the subesophageal ganglion, located near the esophagus. The ventral nerve cord runs along the length of the body, containing pairs of ganglia that control specific regions of the body.
In mollusks, the central nervous system is composed of several ganglia, which can be fused or dispersed, depending on the species. In cephalopods (such as squids and octopuses), the brain is highly developed and consists of several lobes that perform various functions, including learning and memory.
Overall, invertebrate ganglia are essential components of the nervous system that allow these animals to respond to environmental stimuli, move, and interact with their surroundings.
Nervous system diseases, also known as neurological disorders, refer to a group of conditions that affect the nervous system, which includes the brain, spinal cord, nerves, and muscles. These diseases can affect various functions of the body, such as movement, sensation, cognition, and behavior. They can be caused by genetics, infections, injuries, degeneration, or tumors. Examples of nervous system diseases include Alzheimer's disease, Parkinson's disease, multiple sclerosis, epilepsy, migraine, stroke, and neuroinfections like meningitis and encephalitis. The symptoms and severity of these disorders can vary widely, ranging from mild to severe and debilitating.
Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.
For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.
Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.
Neuroprotective agents are substances that protect neurons or nerve cells from damage, degeneration, or death caused by various factors such as trauma, inflammation, oxidative stress, or excitotoxicity. These agents work through different mechanisms, including reducing the production of free radicals, inhibiting the release of glutamate (a neurotransmitter that can cause cell damage in high concentrations), promoting the growth and survival of neurons, and preventing apoptosis (programmed cell death). Neuroprotective agents have been studied for their potential to treat various neurological disorders, including stroke, traumatic brain injury, Parkinson's disease, Alzheimer's disease, and multiple sclerosis. However, more research is needed to fully understand their mechanisms of action and to develop effective therapies.
Neuroimaging is a medical term that refers to the use of various techniques to either directly or indirectly image the structure, function, or pharmacology of the nervous system. It includes techniques such as computed tomography (CT), magnetic resonance imaging (MRI), functional MRI (fMRI), positron emission tomography (PET), single-photon emission computed tomography (SPECT), and diffusion tensor imaging (DTI). These techniques are used to diagnose and monitor various neurological and psychiatric conditions, as well as to understand the underlying mechanisms of brain function in health and disease.
Motor neuron diseases
Madras motor neuron disease
List of people with motor neuron disease
Motor Neurone Disease Association
Motor Neurone Disease New Zealand Charitable Trust
Motor nerve
Donald L. Price
Neuroinflammation
Nick Kirk
Ice Bucket Challenge
Sheffield Medical School
F wave
Gene silencing
2014 in Ireland
Spinal muscular atrophy
Paul Hopkins (pilot)
Frank Clifford Rose
Amyotrophy
Yvonne Jeffries
Neuromuscular junction
Peter Scott-Morgan
Andrew Lewer
King's College Hospital NHS Foundation Trust
S. Samar Hasnain
John Gaskell
Creatine
Eddie Kushner
Allan Sharpe
Amyotrophic lateral sclerosis research
Edward Goljan
Motor pool (neuroscience)
Motor neuron diseases - Wikipedia
Dementia in Motor Neuron Disease: Overview, Etiology, Epidemiology
Dementia in Motor Neuron Disease: Overview, Etiology, Epidemiology
Kirsty Winders is fundraising for Motor Neurone Disease Association
Motor Neurone Disease Latest News | Yorkshire Post
Patrick Smith is fundraising for Motor Neurone Disease Association
Scott Doswell is fundraising for Motor Neurone Disease Association
Motor Neurone Disease: Assessment and Management - NCBI Bookshelf
Recommendations | Motor neurone disease: assessment and management | Guidance | NICE
Non-invasive ventilation in motor neuron disease: current UK practice
Motor Neuron Disease Research Breakthrough
Donate to Motor Neurone Disease research
FTD Presentation with Motor Neurone Disease | Dementia Research Centre - UCL - University College London
University of Glasgow - University events - Cafe Scientifique Glasgow - Events - Motorneurone Disease
From motor neuron to Huntington's, rare diseases are more common than you might realize | World Economic Forum
New Gene Mutants Identified in Rare Motor Neuron Diseases | TS Digest | The Scientist
Coronation Street's Paul Foreman diagnosed with motor neurone disease | Radio Times
Gift card - Motor Neurone Disease (MND) VIC
Irish Motor Neurone Disease Association : About IMNDA
Motor Neurone Disease Latest News | Stornoway Gazette
Motor Neuron Disease Linked to Gene-Environment Interactions - Beyond Pesticides Daily News Blog
Just Diagnosed
The varied motor neuron disease phenotypes | ACNR Journal
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. |...
Motor Neurone Disease Award - Brain Foundation
motor neurone disease Archives - Trinity News
Motor Neurone Disease Archives - The Leamington Observer
Evaluation of glucose tolerance and intestinal luminal membrane glucose transporter function in horses with equine motor neuron...
Motor neurone disease - The Day
Scientific Frontline: Gene discovery indicates motor neuron diseases caused by abnormal lipid processing in cells
Amyotrophic19
- Cognitive impairment in amyotrophic lateral sclerosis (ALS) is correlated with pathologic and radiographic changes in the cerebral cortex beyond the motor regions. (medscape.com)
- For patient education information, see the Brain and Nervous System Center , as well as Dementia Overview , Dementia Medication Overview , and Dementia in Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) . (medscape.com)
- Until recently, it was thought that genetics made little contribution to the disease - also termed amyotrophic lateral sclerosis (ALS) - and that the environment was mostly to blame. (vetscite.org)
- Amyotrophic lateral sclerosis ("ALS") - also referred to as motor neuron disease or Lou Gehrig's disease in some part of the United States - is a debilitating disease with varied etiology characterised by rapidly progressive weakness, muscle atrophy and fasciculations, muscle spasticity, difficulty speaking (dysarthria), difficulty swallowing (dysphagia) and difficulty breathing (dyspnea). (evotec.com)
- The Ice Bucket Challenge is an activity involving dumping a bucket of ice water on someone's head to promote awareness of the disease amyotrophic lateral sclerosis (ALS) and encourage donations to research. (evotec.com)
- Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei, or a combination. (msdmanuals.com)
- Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease (MND). (msdmanuals.com)
- Researchers at the Francis Crick Institute and UCL have shown that hundreds of proteins and mRNA molecules are found in the wrong place in nerve cells affected by Motor Neuron Disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS). (news-medical.net)
- Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal motor neuron disease that causes people to gradually lose control of their muscles. (news-medical.net)
- Researchers at Nagoya University in Japan have discovered a receptor, sigma-1 receptor, and a protein, ATAD3A, that are associated with Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease. (news-medical.net)
- In virtually all persons with amyotrophic lateral sclerosis (ALS) and in up to half of all cases of Alzheimer's disease (AD) and frontotemporal dementia, a protein called TDP-43 is lost from its normal location in the nucleus of the cell. (news-medical.net)
- New research offers clues about the biology of cells in the spinal cord that die off in amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. (news-medical.net)
- For the disease amyotrophic lateral sclerosis, also known as motor neurone disease, see Amyotrophic lateral sclerosis . (mdwiki.org)
- Motor neuron diseases like amyotrophic lateral sclerosis (ALS) destroy motor neurons. (pluto.bio)
- Neil Platt was diagnosed with motor neurone disease (MND), also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease, in February 2008 by Professor Chris Shaw. (iambreathing.com)
- His major area of clinical and research interest is in the genetic and molecular basis of motor neurone disease (MND, also known as amyotrophic lateral sclerosis or Lou Gehrig's disease). (iambreathing.com)
- The Centers for Disease Control (CDC) has announced the next session of Public Health Grand Rounds, " National Amyotrophic lateral sclerosis (ALS) Registry - Impact, Challenges, and Future Directions" which will be held on Tuesday, April 18, 2017 at 1:00 p.m. (cdc.gov)
- Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease, is a rapidly progressive, fatal neurological disease caused by degeneration of motor neurons in the brain and spinal cord. (cdc.gov)
- The number of people with amyotrophic lateral sclerosis (ALS) in the United States is difficult to estimate because, until recently, there was no nationwide disease registry or surveillance system for ALS. (cdc.gov)
MNDs8
- Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. (wikipedia.org)
- Motor neuron degenerative diseases (MNDs) are a large family of neurological disorders. (sflorg.com)
- In the latest research, the team used cutting-edge genetic sequencing techniques to investigate the genome of three families with individuals affected by hereditary spastic paraplegia - a large group of MNDs in which the motor neurons in the upper part of the spinal cord miscommunicate with muscle fibers, leading to symptoms including muscle stiffness, weakness and wasting. (sflorg.com)
- Upper MNDs (eg, primary lateral sclerosis) affect neurons of the motor cortex, which extend to the brain stem (corticobulbar tracts) or spinal cord (corticospinal tracts). (msdmanuals.com)
- Lower MNDs affect the anterior horn cells or cranial nerve motor nuclei or their efferent axons to the skeletal muscles. (msdmanuals.com)
- Motor neuron diseases (MNDs) are progressive neurological conditions that occur when motor neurons, or nerve cells that control muscle movement, become damaged and die. This affects skeletal muscle activity, such as walking, speaking, swallowing and breathing. (painscale.com)
- In most cases, muscle weakness from motor neuron diseases gradually worsens, and unfortunately, some MNDs are fatal. (painscale.com)
- ALS is one of a group of conditions known as motor neuron diseases (MNDs). (cdc.gov)
Parkinson's3
- Many of these "genetic suspects" have been identified in other brain-related disease, including Alzheimer's disease, Parkinson's disease and autism. (vetscite.org)
- Nearly one million people in the United States are living with Parkinson's disease, making it the second-most common neurodegenerative disease after Alzheimer's. (news-medical.net)
- Mortality from presenile dementia (PSD), Alzheimer's disease (AD), Parkinson's disease (PD), and motor neuron disease (MND) was examined for 27 states in the National Occupational Mortality Surveillance (NOMS) system for the period 1982 through 1991. (cdc.gov)
Upper motor5
- There can be lower motor neuron findings (e.g. muscle wasting, muscle twitching), upper motor neuron findings (e.g. brisk reflexes, Babinski reflex, Hoffman's reflex, increased muscle tone), or both. (wikipedia.org)
- Some have just lower or upper motor neuron findings, while others have a mix of both. (wikipedia.org)
- Lower motor neuron (LMN) findings include muscle atrophy and fasciculations, and upper motor neuron (UMN) findings include hyperreflexia, spasticity, muscle spasm, and abnormal reflexes. (wikipedia.org)
- Pure upper motor neuron diseases, or those with just UMN findings, include PLS. (wikipedia.org)
- Now, the team has identified a further new gene - named TMEM63C - which causes a degenerative disease that affects the upper motor neuron cells in the nervous system. (sflorg.com)
Degeneration5
- It is characterized by pyramidal cell loss in the frontal and temporal lobes and degeneration of motor neurons in the hypoglossal nucleus and spinal motor neurons. (medscape.com)
- Data now suggest that delocalization, accumulation, and ubiquitination of TDP-43 in the cytoplasm of motor neurons are early dysfunctions in the cascade of the events leading to motor neuron degeneration in ALS. (medscape.com)
- MND is characterised by the degeneration of primarily motor neurones, leading to muscle weakness. (nih.gov)
- The disorder induces muscle weakness and atrophy throughout the body caused by the degeneration of the upper and lower motor neurons. (evotec.com)
- Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
Brain and spinal3
- Motor neurone disease (MND) is a neurodegenerative condition that affects the brain and spinal cord. (nih.gov)
- Motor neuron disease (MND) is a group of diseases in which the nerve cells in the brain and spinal cord controlling the muscles that enable us to move, speak, breathe and swallow slowly degenerate and die. (vetscite.org)
- The term motor neurone disease describes a group of related diseases, affecting the motor nerves or neurones in the brain and spinal cord which pass messages to the muscles telling them what to do. (iambreathing.com)
20191
- The 1990-2019 Global Burden of Diseases data from the Institute for Health Metrics and Evaluation based in Seattle, Washington, United States of America, was used to estimate the need for rehabilitation services by presenting the prevalence, and associated years lived with disability, of 25 health conditions - disease causes, impairments and sequelae - that are amenable to rehabilitation at some point in the course of disease. (who.int)
Huntington's3
- Background: Early non-motor features including anxiety, depression and altered social cognition are present in Huntington's disease (HD). (lu.se)
- These nanometer scale models will help scientists better understand and study neurodegenerative diseases such as Huntington's disease and schizophrenia. (news-medical.net)
- Brainstem findings in Huntington's disease. (bvsalud.org)
Neurology1
- completing an undergraduate degree in Clinical Genetics at King's College London before working as a researcher in neuromuscular diseases at the John Walton Muscular Dystrophy Research Centre, Newcastle and the Anne Rowling Regenerative Neurology Clinic, Edinburgh. (gla.ac.uk)
Muscles8
- Whichever area the disease starts, as the disease progresses the pattern of signs and symptoms becomes similar, with increasing muscle weakness in the person's arms and legs, problems swallowing and communicating and weakness of the muscles used for breathing, which ultimately leads to death. (nih.gov)
- Researchers have found that the insulin-like growth factor 1 (IGF-1) dramatically increases the in vitro growth of corticospinal motor neuron (CSMN) axons - projections that carry nerve impulses to the spinal motor neurons that connect to muscles. (sci-info-pages.com)
- Individuals affected by the disorder may ultimately lose the ability to initiate and control all voluntary movement, although bladder and bowel sphincters and the muscles responsible for eye movement are usually, but not always, spared until the terminal stages of the disease. (evotec.com)
- When muscles don't receive normal signals from our motor neurons, the muscles atrophy (weaken and shrink) and we lose the ability to do those activities over time. (pluto.bio)
- Tremors of outstretched hands, muscle cramps during physical activity, and twitching of the muscles are typically the first symptoms of Kennedy's disease. (painscale.com)
- It can affect any adult at any time and attacks the motor neurones that send messages from the brain to the muscles, leaving people unable to walk, talk or feed themselves. (iambreathing.com)
- A new theory is making rounds regarding Motor Neuron Disease, which is known to alter muscles in a major way. (tmrblog.com)
- Motor neurons send signals to the muscles. (cdc.gov)
Alzheimer's1
- In June 1990, he spent a week there undergoing tests and in the following October we were told that he probably had Alzheimer's disease and there was nothing that could be done. (ucl.ac.uk)
Disorders3
- Currently, there are no approved treatments for the majority of motor neuron disorders, and care is mostly symptomatic. (wikipedia.org)
- In addition to providing insight into the development and circuit formation of this critical population of neurons, these results might lead to the future ability to treat motor neuron disorders and spinal cord injuries. (sci-info-pages.com)
- Motor neurone disease (MND) is a group of progressive neurological disorders that destroy the motor neurons - cells that control voluntary muscle activity including speaking, walking, breathing, swallowing and general movement of the body. (irishlife.ie)
Gene9
- A new gene therapy could revolutionize the treatment of diseases like sickle cell anaemia. (weforum.org)
- Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. (broadinstitute.org)
- This new gene finding is consistent with our hypothesis that the correct maintenance of specific lipid processing pathways is crucial for the way brain cells function, and that abnormalities in these pathways are a common linking theme in motor neuron degenerative diseases," said study co-author Professor Andrew Crosby from the University of Exeter. (sflorg.com)
- These investigations showed that changes in the TMEM63C gene were the cause of the disease. (sflorg.com)
- From a mitochondrial cell biologist point of view, identification of TMEM63C as a new motor neuron degenerative disease gene and its importance to different organelle functions reinforce the idea that the capacity of different cellular compartments to communicate together, by exchanging lipids for example, is critical to ensure cellular homeostasis required to prevent disease," said Prudent. (sflorg.com)
- The researchers believe these gene variants are "promising candidates" for playing a role in the development of motor neuron disease. (vetscite.org)
- To our surprise, the motor neurons we created expressed the same gene (HOXC8) as motor neurons located specifically in the thoracic/lumbar section of the spinal cord. (pluto.bio)
- Barplot showing HOX gene expression in generated motor neurons. (pluto.bio)
- Researchers have identified at least one DCTN1 gene mutation that causes a nervous system disorder called distal hereditary motor neuronopathy type VIIB. (medlineplus.gov)
Muscle atrophy and fasciculations1
- Signs and symptoms reflect frontal and temporal lobe dysfunction with lower motor neuron-type weakness, muscle atrophy, and fasciculations. (medscape.com)
Nerve5
- In bulbar palsies, only the cranial nerve motor nuclei in the brain stem (bulbar nuclei) are affected. (msdmanuals.com)
- ALS is a disease that affects the nerve cells in both the upper and lower parts of the body. (cdc.gov)
- This disease causes the nerve cells to stop working and die. (cdc.gov)
- What are motor neuron (nerve cell) diseases? (cdc.gov)
- Researchers believe that the dynactin complex is particularly important for the proper function of axons, which are specialized extensions of nerve cells (neurons). (medlineplus.gov)
Frontotemporal2
- Patients with motor neuron disease (MND) are generally free of cognitive impairment, but evidence is growing to support an association between MND and frontal lobe or frontotemporal dementia (FTD). (medscape.com)
- Worldwide, frontotemporal lobe dementia with motor neuron disease (FTD/MND) is a sporadic condition with an unknown etiology. (medscape.com)
Humans2
- Although their cell bodies are located in the brain, CSMN axons extend down to the neurons they control in the spinal cord - extending as far as three feet in adult humans. (sci-info-pages.com)
- The soma, the round-ish cell body of a motor neuron, is typically about 10 micrometers in humans, which is large enough to see through a microscope. (pluto.bio)
Affects1
- While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness. (wikipedia.org)
Patients8
- About 95% of ALS patients have abnormalities in the nucleus-cytoplasmic localization in spinal motor neurons of TDP43. (wikipedia.org)
- In TDP-43 depleted human neural stem cell-derived motor neurons, as well as in sporadic ALS patients' spinal cord specimens there is significant double-strand break accumulation and reduced levels of NHEJ. (wikipedia.org)
- Referral was based primarily on symptoms, and was influenced by the number of MND patients under review, level of disability, rate of disease progression and availability of a NIV service. (nih.gov)
- Each year in the U.S., 5,000 patients receive a diagnosis of ALS, an incurable neurodegenerative disease that will likely kill them within two to five years. (news-medical.net)
- Once we had produced the cells that we wanted to study, we decided to subject them to hypoxic conditions (lower than normal oxygen levels) because it has been reported that motor neurons of diabetic patients experience hypoxic conditions due to poor blood circulation in the periphery (i.e. the patient's feet). (pluto.bio)
- In 2009, the federal Agency for Toxic Substances and Disease Registry (ATSDR) began work to establish the National ALS Registry, and sought the best methods for identifying patients with ALS. (cdc.gov)
- We reviewed the clinical manifestations and outcome of 20 cases of neurobrocellosis out of 1375 patients with brucellosis admitted to the infectious diseases ward of a tertiary hospital in Hamedan, Islamic Republic of Iran. (who.int)
- In endemic areas, the disease should be ruled out in all patients who develop unexplained neurological symptoms. (who.int)
Neurodegenerative disease3
- On Friday, the motor neuron research group took on the ALS Ice Bucket Challenge to help raise awareness for this rapidly progressive neurodegenerative disease. (evotec.com)
- In October 2012, reports announced that Scientists at Bath University moved one step further to understanding the role of one of the proteins that causes the neurodegenerative disease. (iambreathing.com)
- Support was observed for hypothesized excess neurodegenerative disease associated with a variety of occupations, 60 Hz magnetic fields and welding. (cdc.gov)
Diagnosis4
- Differential diagnosis can be challenging due to the number of overlapping symptoms, shared between several motor neuron diseases. (wikipedia.org)
- Early diagnosis, without delay after investigation, may be helpful as it allows for the provision of medication and aids, as well as for communication about the disease and advance care planning to be undertaken appropriately. (nih.gov)
- This diagnosis was changed to probable Pick’s disease. (ucl.ac.uk)
- Around 5,000 people in the UK have MND at any one time, with half of people with the disease dying within 14 months of diagnosis. (iambreathing.com)
Attacks the nerves2
- The disease attacks the nerves that control movement, so those suffering from the condition are locked in a failing body, unable to move, talk, and eventually breathe. (radiotimes.com)
- Motor Neurone Disease (MND) attacks the nerves, leaving those affected unable to walk, talk, eat and ultimately to breathe. (london-irish.com)
Weakness6
- Various patterns of muscle weakness occur in different motor neuron diseases. (wikipedia.org)
- there are three main weakness patterns that are seen in motor neuron diseases, which are: Asymmetric distal weakness without sensory loss (e.g. (wikipedia.org)
- Progressive dementia with symptoms of executive dysfunction, personality change, and motor weakness leads to severe morbidity. (medscape.com)
- The presentation of the disease varies and can be as muscle weakness, wasting, cramps and stiffness of arms and/or legs, problems with speech and/or swallowing or, more rarely, with breathing problems. (nih.gov)
- It covers monitoring of disease progression, management of symptoms (in particular muscle weakness, excess secretions, breathing and nutrition problems), ongoing support and services, mobility, emotional and psychological changes, and preparation for end of life. (nih.gov)
- As Kennedy's disease progresses, which usually happens very slowly, weakness begins to affect the pelvis and shoulders, eventually spreading to the legs and arms. (painscale.com)
Researchers5
- In an effort to identify genetic variants that may play a role in the disease, the researchers sequenced the protein-coding genes of 44 MND-affected individuals and their parents. (vetscite.org)
- Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades. (news-medical.net)
- Researchers around the world are studying motor neuron diseases to better understand how to treat them. (pluto.bio)
- The researchers are from University of Exeter, and vary evidence backing their claims - cholesterol and fat levels cause motor neurone disease. (tmrblog.com)
- Persons with ALS can join the registry and complete brief surveys that help researchers understand possible risk factors for the disease, such as genetics, environmental, and occupational exposures. (cdc.gov)
Progresses1
- As the condition progresses, the motor neuron cells become damaged and may eventually die. (sflorg.com)
Symptoms6
- Symptoms of motor neuron diseases can be first seen at birth or can come on slowly later in life. (wikipedia.org)
- Signs and symptoms depend on the specific disease, but motor neuron diseases typically manifest as a group of movement-related symptoms. (wikipedia.org)
- MND, as the name suggests, is a pure motor disorder without any significant evidence of sensory symptoms, extraocular movement disturbances, bladder and bowel dysfunction, or cognitive impairment. (medscape.com)
- influence of symptoms, respiratory function, rate of disease progression, level of disability and bulbar involvement on referral for NIV. (nih.gov)
- Nomenclature and symptoms vary according to the part of the motor system most affected. (msdmanuals.com)
- A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome. (medlineplus.gov)
Treatments7
- The research may lead to treatments for motor neuron disease and spinal cord injury. (sci-info-pages.com)
- Such clinical variation and a limited understanding of the disease basis presents a major challenge to the development and trialling of urgently needed targeted treatments. (gla.ac.uk)
- More than 300 million people worldwide live with rare diseases, for which there are no preventative measures, no cures, and no effective treatments. (weforum.org)
- Understanding precisely how lipid processing is altered in motor neuron degenerative diseases is essential to be able to develop more effective diagnostic tools and treatments for a large group of diseases that have a huge impact on people's lives," said study co-author Dr Emma Baple from the University of Exeter. (sflorg.com)
- We invest in research that will help us revolutionise understanding of the disease and develop treatments to bring hope for the future. (london-irish.com)
- Research at The University of Queensland could eventually help develop viable treatments - and ultimately a cure - for motor neuron disease (MND). (news-medical.net)
- Currently, there are no treatments available to fully prevent the progression of motor neuron diseases. (pluto.bio)
Sporadic4
- Motor neuron diseases with both UMN and LMN findings include both familial and sporadic ALS. (wikipedia.org)
- This is an advance in knowledge about the role genetics is likely to play in sporadic forms of motor neuron disease," says the University of Sydney's Associate Professor Roger Pamphlett, a co-author of the new study. (vetscite.org)
- Sporadic' motor neuron disease accounts for about 90 per cent of cases. (vetscite.org)
- The findings indicate that the genetic changes underlying many cases of sporadic motor neuron disease could stem from one of two sources," Associate Professor Pamphlett says. (vetscite.org)
Rapidly progressive neurodegenerative1
- Motor Neurone Disease (MND) is known as a rapidly progressive neurodegenerative condition however the disease course is highly variable and difficult to predict. (gla.ac.uk)
Dysfunction1
- Objective -To confirm whether the plasma glucose concentration curve obtained during oral glucose tolerance tests (OGTTs) in horses with equine motor neuron disease (EMND) is decreased, compared with that obtained in clinically normal horses, and determine whether that decrease is a result of defective glucose metabolism or intestinal glucose transport dysfunction. (avma.org)
Vitro3
- One challenge currently slowing progress in this field is that there are few reliable in vitro models of motor neuron diseases. (pluto.bio)
- I developed a system for generating large quantities of mature human motor neurons in vitro that can be used to study all types of motor neuron diseases, as well as potential therapies, in the lab. (pluto.bio)
- To grow motor neurons in vitro in a way that accurately represents how they grow in vivo, we designed a protocol for guiding them through the developmental stages above. (pluto.bio)
Cerebral3
- Since they are embedded among hundreds of other types of neurons in the cerebral cortex, it has been difficult to study CSMN, and little has been known about cellular and molecular factors that control their growth and development. (sci-info-pages.com)
- 2001. Subchronic dermal application of N,N-diethyl m-toluamide (DEET) and permethrin to adult rats, alone or in combination, causes diffuse neuronal cell death and cytoskeletal abnormalities in the cerebral cortex and the hippocampus, and purkinje neuron loss in the cerebellum. (cdc.gov)
- In contrast to Huntington disease (HD), the major inherited choreiform disorder of adults, the cerebral cortex and corpus callosum are relatively spared. (medscape.com)
Axon2
- Jeffrey Macklis, director of the MGH-Harvard Medical School Center for Nervous System Repair, said: "Our findings that IGF-1 specifically enhances both the speed and extent of axon outgrowth of corticospinal motor neurons are the first direct evidence of growth factor control over the differentiation of these neurons. (sci-info-pages.com)
- As a motor neuron matures, it develops an axon, which is used for its main function of transmitting signals long distances across the body. (pluto.bio)
Selectively3
- Methods: To express mHTT only in OXT neurons, we used a novel flex-switch adeno-associated viral vector design to selectively express either mHTT or wild-type HTT in the. (lu.se)
- Methods: To express mHTT only in OXT neurons, we used a novel flex-switch adeno-associated viral vector design to selectively express either mHTT or wild-type HTT in the paraventricular nucleus of the hypothalamus using OXT-Cre-recombinase mice. (lu.se)
- We also performed a mirror experiment to selectively delete mHTT in OXT neurons using the BACHD mouse model. (lu.se)
Axons1
- The altered protein may result in an abnormal dynactin complex and disturb interactions between the complex and microtubules, which would disrupt transport activities and impair the function of axons in neurons. (medlineplus.gov)
Centers for Diseas2
- The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
Progression6
- Every person with MND has an individual progression of the disease. (nih.gov)
- While drugs are on the market to slow the progression of neurodegenerative diseases, there are still no cures. (news-medical.net)
- These effects of lithium are concomitant with slowed disease progression and are reminiscent of the neurogenetic effects described in the sub-ependymal ventricular zone of the hippocampus. (fupress.net)
- Knowing which RNAs came from the soma versus the neurites can be extremely important in understanding disease progression because transport of RNAs from soma to neurites can be affected and contribute to disease onset and progression. (pluto.bio)
- Progression of motor neuron diseases varies depending on the specific type of disease. (painscale.com)
- Because the progression of Kennedy's disease occurs very slowly, many with the disease have a normal life expectancy. (painscale.com)
Association5
- We are raising money for Motor Neurone Disease Association because It's a charity close to our hearts. (justgiving.com)
- I am running the Plymouth Half Marathon for Motor Neurone Disease Association because of the excellent work the Plymouth branch does. (justgiving.com)
- We have been privileged to work with the Motor Neurone Disease Association - including talking to people who have the condition and their families - to ensure we do justice to people's real-life experiences. (radiotimes.com)
- They'll take your donation and pass it onto Motor Neurone Disease Association. (giveasyoulive.com)
- Your donations will help the great work Motor Neurone Disease Association do. (giveasyoulive.com)
Abnormal3
- About 5-10% of people with MND have a family history of the disease and several abnormal genes have been identified. (nih.gov)
- A new genetic discovery adds weight to a theory that motor neuron degenerative diseases are caused by abnormal lipid (fat) processing pathways inside brain cells. (sflorg.com)
- Slow or abnormal transport of materials needed for the normal function of neurons causes these cells to malfunction and ultimately die. (medlineplus.gov)
Chronic disease1
- National administrative healthcare data may be used as a case-finding method for prevalence studies of chronic disease in the United States, but the completeness of ascertainment likely varies depending on the disease under study. (cdc.gov)
Spinal muscula1
- SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. (broadinstitute.org)
Distal1
- It is unclear how this mutation causes distal hereditary motor neuronopathy type VIIB. (medlineplus.gov)
Rarer1
- Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)
Send signals2
- Motor neurons are important cells in our body that send signals to our skeletal muscle that allow us to do activities like walk, speak, swallow, and even breathe. (pluto.bio)
- Within about 18 days, the undifferentiated cells we started with will have become mature motor neurons which can form connections and send signals to each other (see image below). (pluto.bio)
Research1
- The purpose of this research is to get a better picture of who gets ALS or other motor neuron diseases. (cdc.gov)
Anterior horn1
- C9-S antibody immunostained the nuclear membrane of anterior horn cells in healthy neurons. (figshare.com)
Paralysis1
- Diaphragmatic paralysis in motor neuron disease. (bvsalud.org)
Genetic2
- Background Apart from increasing age and a few specific genetic polymorphisms, the aetiology of Motor Neurone Disease is largely unknown. (bmj.com)
- Neil Platt was among the small proportion (5-10%) of people with MND who have a family history of the disease, caused by genetic mistakes that can be passed from one generation to the next. (iambreathing.com)