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Stiff-person Syndrome
Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS), is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Chronic pain, impaired mobility, and lumbar hyperlordosis are common symptoms. SPS occurs in about one in a million people and is most commonly found in middle-aged people. A small minority of patients have the paraneoplastic variety of the condition. Variants of the condition, such as stiff-limb syndrome which primarily affects a specific limb, are often seen. SPS was first described in 1956. Diagnostic criteria were proposed in the 1960s and refined two decades later. In the 1990s and 2000s the roles of antibodies in the condition became more clear. SPS patients generally have glutamic acid decarboxylase (GAD) antibodies, which seldom occur in the general population. In addition to blood tests f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from el, wikt:νεῦρον, νεῦρον (neûron), "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine), medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the brain, the spinal cord and the peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system. A neurologist is a physician specializing in neurology and trained to investigate, diagnose and treat neurological disorders. Neurologists treat a myriad of neurologic conditions, including stroke, seizures, movement disorders such as Parkinson's disease, autoimmune neurologic disorders such as multiple sclerosis, headache disorders like migraine and dementias such as Alzheimer's disease. Neurologists may also be involved in clinical research, clinical trials, and basic research, basic or translational research. While neurology is a nonsurgical sp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antagonist (muscle)
Anatomical terminology is used to uniquely describe aspects of skeletal muscle, cardiac muscle, and smooth muscle such as their actions, structure, size, and location. Types There are three types of muscle tissue in the body: skeletal, smooth, and cardiac. Skeletal muscle Skeletal muscle, or "voluntary muscle", is a striated muscle tissue that primarily joins to bone with tendons. Skeletal muscle enables movement of bones, and maintains posture. The widest part of a muscle that pulls on the tendons is known as the belly. Muscle slip A muscle slip is a slip of muscle that can either be an anatomical variant, or a branching of a muscle as in rib connections of the serratus anterior muscle. Smooth muscle Smooth muscle is involuntary and found in parts of the body where it conveys action without conscious intent. The majority of this type of muscle tissue is found in the digestive and urinary systems where it acts by propelling forward food, chyme, and feces in the former and ur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gephyrin
Gephyrin is a protein that in humans is encoded by the ''GPHN'' gene. This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperekplexia and also lead to molybdenum cofactor deficiency. Gene Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. The production of alternatively spliced variants is affected by noncoding regions within the gene. A ‘yin-yang’ noncoding sequence pair encompassing ''gephyrin'' has been identified.* These sequences are opposites of each other - consisting of hundreds of divergent nucleotide states. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amphiphysin
Amphiphysin is a protein that in humans is encoded by the ''AMPH'' gene. Function This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff person syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. Amphiphysin is a brain-enriched protein with an N-terminal lipid interaction, dimerisation and membrane bending BAR domain, a middle clathrin and adaptor binding domain and a C-terminal SH3 domain. In the brain, its primary function is thought to be the recruitment of dynamin to sites of clathrin-mediated endocytosis. There are 2 mammalian amphiphysins with similar overall structure. A ubiquitous splice form of amphiphysin-2 (BIN1) that does not contain clathrin or adapto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GABARAP
Gamma-aminobutyric acid receptor-associated protein is a protein that in humans is encoded by the ''GABARAP'' gene. Function Gamma-aminobutyric acid A receptors ABA(A) receptorsare ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. Moreover, GABARAP has an important function in autophagosome mediated autophagy, since it is crucial for autophagosome formation and sequestration of cytosolic cargo into double-membrane vesicles, leading to subsequent degradation after fusion with lysosomes. In addition, GABARAP can mediate selective autophagy because it binds to so-called autophagic receptors (e.g. p62, NBr1), which bind and recruit specific cargo. Interactions ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antigen
In immunology, an antigen (Ag) is a molecule or molecular structure or any foreign particulate matter or a pollen grain that can bind to a specific antibody or T-cell receptor. The presence of antigens in the body may trigger an immune response. The term ''antigen'' originally referred to a substance that is an antibody generator. Antigens can be proteins, peptides (amino acid chains), polysaccharides (chains of monosaccharides/simple sugars), lipids, or nucleic acids. Antigens are recognized by antigen receptors, including antibodies and T-cell receptors. Diverse antigen receptors are made by cells of the immune system so that each cell has a specificity for a single antigen. Upon exposure to an antigen, only the lymphocytes that recognize that antigen are activated and expanded, a process known as clonal selection. In most cases, an antibody can only react to and bind one specific antigen; in some instances, however, antibodies may cross-react and bind more than one antigen. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antibody
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the pathogen, called an antigen. Each tip of the "Y" of an antibody contains a paratope (analogous to a lock) that is specific for one particular epitope (analogous to a key) on an antigen, allowing these two structures to bind together with precision. Using this binding mechanism, an antibody can ''tag'' a microbe or an infected cell for attack by other parts of the immune system, or can neutralize it directly (for example, by blocking a part of a virus that is essential for its invasion). To allow the immune system to recognize millions of different antigens, the antigen-binding sites at both tips of the antibody come in an equally wide variety. In contrast, the remainder of the antibody is relatively constant. It only occurs in a few varia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- negative prefix+ -τάξις rder= "lack of order". Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autonomic Nervous System
The autonomic nervous system (ANS), formerly referred to as the vegetative nervous system, is a division of the peripheral nervous system that supplies viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control system that acts largely unconsciously and regulates bodily functions, such as the heart rate, its force of contraction, digestion, respiratory rate, pupillary dilation, pupillary response, Micturition, urination, and sexual arousal. This system is the primary mechanism in control of the fight-or-flight response. The autonomic nervous system is regulated by integrated reflexes through the brainstem to the spinal cord and organ (anatomy), organs. Autonomic functions include control of respiration, heart rate, cardiac regulation (the cardiac control center), vasomotor activity (the vasomotor center), and certain reflex, reflex actions such as coughing, sneezing, swallowing and vomiting. Those are then subdivided into other areas and are also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoimmune
In immunology, autoimmunity is the system of immune responses of an organism against its own healthy cells, tissues and other normal body constituents. Any disease resulting from this type of immune response is termed an "autoimmune disease". Prominent examples include celiac disease, post-infectious IBS, diabetes mellitus type 1, Henoch–Schönlein purpura (HSP) sarcoidosis, systemic lupus erythematosus (SLE), Sjögren syndrome, eosinophilic granulomatosis with polyangiitis, Hashimoto's thyroiditis, Graves' disease, idiopathic thrombocytopenic purpura, Addison's disease, rheumatoid arthritis (RA), ankylosing spondylitis, polymyositis (PM), dermatomyositis (DM), Alopecia Areata and multiple sclerosis (MS). Autoimmune diseases are very often treated with steroids. Autoimmunity means presence of antibodies or T cells that react with self-protein and is present in all individuals, even in normal health state. It causes autoimmune diseases if self-reactivity can lead to tissue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paraneoplastic
A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of a tumor in the body (usually a cancerous one), specifically due to the production of chemical signaling molecules (such as hormones or cytokines) by tumor cells or by an immune response against the tumor. Unlike a mass effect, it is not due to the local presence of cancer cells. Paraneoplastic syndromes are typical among middle-aged to older patients, and they most commonly present with cancers of the lung, breast, ovaries or lymphatic system (a lymphoma). Sometimes, the symptoms of paraneoplastic syndromes show before the diagnosis of a malignancy, which has been hypothesized to relate to the disease pathogenesis. In this paradigm, tumor cells express tissue-restricted antigens (e.g., neuronal proteins), triggering an anti-tumor immune response which may be partially or, rarely, completely effective in suppressing tumor growth and symptoms. Patients then come to clinical attention whe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dromophobia
The fear of crossing streets, or its terms dromophobia and agyrophobia, is a specific phobia that affects a person's ability to cross a street or roadway where cars or vehicles may be present. The term dromophobia comes from the Greek ''dromos'', meaning racetrack. Causes of dromophobia Dromophobia may result from experiencing a road accident and thus may be classified as a subtype of panic disorder with agoraphobia (PDA). As such, dromophobia, especially fear of crossing streets alone may be a component of accident-related posttraumatic stress disorder, as a reaction to a situation reminiscent of the past traumatic event. Sometimes this behavior may be misinterpreted during PTSD symptom assessment as a caution (i.e., a normal learning behavior) rather than fear (which is an abnormal avoidant behavior). Fear of crossing streets may also result from an anticipatory anxiety related to person's limited mobility. For example, a person with stiff-person syndrome may experience atta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
