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Choreoacanthocytosis
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease --evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include involuntary muscle movements, impaired balance and coordination,behavioral changes, memory problems,difficulty swallowing, speech difficulties, seizures, muscle weakness, personality changes,and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death. Chorea-acanthocytosis is a very complex autosomal recessive adult-onset neurodegenerative disorde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disease
A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergy, allergies, and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, Abnormality (behavior), dysfunction, distress (medicine), distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injury in humans, injuries, disability, disabilities, Disorder (medicine) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Red Blood Cell
Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cell and the vertebrate's principal means of delivering oxygen () to the body tissue (biology), tissues—via blood flow through the circulatory system. Erythrocytes take up oxygen in the lungs, or in fish the gills, and release it into tissues while squeezing through the body's capillary, capillaries. The cytoplasm of a red blood cell is rich in hemoglobin (Hb), an iron-containing biomolecule that can bind oxygen and is responsible for the red color of the cells and the blood. Each human red blood cell contains approximately 270 million hemoglobin molecules. The cell membrane is composed of proteins and lipids, and this structure provides properties essential for physiological Cell (biology), cell function such as erythrocyte deformabil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroacanthocytosis
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN). The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia. The diseases are hereditary but rare. Acanthocytes The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. ''Acanthocytosis'' originated from the Greek word ''acantha'', meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by alte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acanthocyte
Acanthocyte (from the Greek word ἄκανθα ''acantha'', meaning 'thorn'), in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes. Acanthocytes have coarse, irregularly spaced, variably sized crenations, resembling many-pointed stars. They are seen on blood films in abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several inherited neurological and other disorders such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease. Usage Spur cells may refer synonymously to acanthocytes, or may refer in some sources to a specific subset of 'extreme acanthocytes' that have undergone splenic modification whereby additional cell membrane loss ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuron
A neuron (American English), neurone (British English), or nerve cell, is an membrane potential#Cell excitability, excitable cell (biology), cell that fires electric signals called action potentials across a neural network (biology), neural network in the nervous system. They are located in the nervous system and help to receive and conduct impulses. Neurons communicate with other cells via synapses, which are specialized connections that commonly use minute amounts of chemical neurotransmitters to pass the electric signal from the presynaptic neuron to the target cell through the synaptic gap. Neurons are the main components of nervous tissue in all Animalia, animals except sponges and placozoans. Plants and fungi do not have nerve cells. Molecular evidence suggests that the ability to generate electric signals first appeared in evolution some 700 to 800 million years ago, during the Tonian period. Predecessors of neurons were the peptidergic secretory cells. They eventually ga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly Genetic disorder#Autosomal dominant, inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities, which precede the motor symptoms for many people. The definitive physical symptoms, including a general Ataxia, lack of coordination and an unsteady human gait, gait, eventually follow. Over time, the basal ganglia region of the brain gradually Basal ganglia disease#Huntington's disease, becomes damaged. The disease is primarily characterized by a distinctive hyperkinesia, hyperkinetic movement disorder known as ''chorea.'' Chorea classically presents as uncoordinated, involuntary, "dance-like" body movements that become more apparent as the disease advances. Physical abilities gradually worsen until Motor coordination, coordinated mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incompl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
VPS13A
VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the ''VPS13A'' gene. Function The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease --evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in r .... Alternative splicing of this gene results in multiple transcript variants. References Further reading * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis {{gene-9-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Botulinum Toxin
Botulinum toxin, or botulinum neurotoxin (commonly called botox), is a neurotoxic protein produced by the bacterium ''Clostridium botulinum'' and related species. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction, thus causing flaccid paralysis. The toxin causes the disease botulism. The toxin is also used commercially for medical and cosmetic purposes. Botulinum toxin is an acetylcholine release inhibitor and a neuromuscular blocking agent. The seven main types of botulinum toxin are named types A to G (A, B, C1, C2, D, E, F and G). New types are occasionally found. Types A and B are capable of causing disease in humans, and are also used commercially and medically. Types C–G are less common; types E and F can cause disease in humans, while the other types cause disease in other animals. Botulinum toxins are among the most potent toxins known to science. Intoxication can occur naturally as a result of eithe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
