Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
Proteins that specifically bind to IRON.
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The output neurons of the cerebellar cortex.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
Genes that influence the PHENOTYPE only in the homozygous state.
A characteristic symptom complex.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.
A delayed rectifier subtype of shaker potassium channels that is commonly mutated in human episodic ATAXIA and MYOKYMIA.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Mice which carry mutant genes for neurologic defects or abnormalities.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
Circumscribed masses of foreign or metabolically inactive materials, within the CELL NUCLEUS. Some are VIRAL INCLUSION BODIES.
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Simple protein, one of the prolamines, derived from the gluten of wheat, rye, etc. May be separated into 4 discrete electrophoretic fractions. It is the toxic factor associated with CELIAC DISEASE.
A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
CALCIUM CHANNELS located in the neurons of the brain.
An individual in which both alleles at a given locus are identical.
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
CALCIUM CHANNELS located within the PURKINJE CELLS of the cerebellum. They are involved in stimulation-secretion coupling of neurons.
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.
Enzyme activated in response to DNA DAMAGE involved in cell cycle arrest. The gene is located on the long (q) arm of chromosome 22 at position 12.1. In humans it is encoded by the CHEK2 gene.
ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
An individual having different alleles at one or more loci regarding a specific character.
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
The magnitude of INBREEDING in humans.
Four clusters of neurons located deep within the WHITE MATTER of the CEREBELLUM, which are the nucleus dentatus, nucleus emboliformis, nucleus globosus, and nucleus fastigii.
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA).
A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A shaker subfamily that is prominently expressed in NEURONS and are necessary for high-frequency, repetitive firing of ACTION POTENTIALS.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (1/764)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.  (+info)

Biological activity of netilmicin, a broad-spectrum semisynthetic aminoglycoside antibiotic. (2/764)

Netilmicin (Sch 20569) is a new broad-spectrum semisynthetic aminoglycoside derived from sisomicin. Netilmicin was compared to gentamicin, tobramycin, and amikacin in a variety of in vitro test systems as well as in mouse protection tests. Netilmicin was found to be similar in activity to gentamicin against aminoglycoside-susceptible strains in both in vitro and in vivo tests. Netilmicin was also active against many aminoglycoside-resistant strains of gram-negative bacteria, particularly those known to possess adenylating enzymes (ANT 2') or those with a similar resistance pattern. Netilmicin was found to be markedly less toxic than gentamicin in chronic studies in cats, although gentamicin appeared less toxic in acute toxicity tests in mice. The concentrations of netilmicin and gentamicin in serum were compared in dogs after intramuscular dosing, and the pharmacokinetics including peak concentrations in serum were found to be similar.  (+info)

Targeted disruption of the murine Nhe1 locus induces ataxia, growth retardation, and seizures. (3/764)

In most cells, the ubiquitously expressed Na+/H+ exchanger isoform 1 (NHE1) is thought to be a primary regulator of pH homeostasis, cell volume regulation, and the proliferative response to growth factor stimulation. To study the function of NHE1 during embryogenesis when these cellular processes are very active, we targeted the Nhe1 gene by replacing the sequence encoding transmembrane domains 6 and 7 with the neomycin resistance gene. NHE activity assays on isolated acinar cells indicated that the targeted allele is functionally null. Although the absence of NHE1 is compatible with embryogenesis, Nhe1 homozygous mutants (-/-) exhibit a decreased rate of postnatal growth that is first evident at 2 wk of age. At this time, Nhe1 -/- animals also begin to exhibit ataxia and epileptic-like seizures. Approximately 67% of the -/- mutants die before weaning. Postmortem examinations frequently revealed an accumulation of a waxy particulate material inside the ears, around the eyes and chin, and on the ventral surface of the paws. Histological analysis of adult tissues revealed a thickening of the lamina propria and a slightly atrophic glandular mucosa in the stomach.  (+info)

Anticonvulsant efficacy of N-methyl-D-aspartate antagonists against convulsions induced by cocaine. (4/764)

Convulsions associated with cocaine abuse can be life threatening and resistant to standard emergency treatment. Cocaine (75 mg/kg, i. p.) produced clonic convulsions in approximately 90% of male, Swiss-Webster mice. A variety of clinically used antiepileptic agents did not significantly protect against cocaine convulsions (e. g., diazepam and phenobarbital). Anticonvulsants in clinical practice that did significantly protect against convulsion did so only at doses with significant sedative/ataxic effects (e.g., clonazepam and valproic acid). In contrast, functional N-methyl-D-aspartate (NMDA) antagonists all produced dose-dependent and significant protection against the convulsant effects of cocaine. Anticonvulsant efficacy was achieved by blockade of both competitive and noncompetitive modulatory sites on the NMDA receptor complex. Thus, competitive antagonists, ion-channel blockers, polyamine antagonists, and functional blockers of the strychnine-insensitive glycine modulatory site all prevented cocaine seizures. The role of NMDA receptors in the control of cocaine-induced convulsions was further strengthened by the positive correlation between the potencies of noncompetititve antagonists or competitive antagonists to block convulsions and their respective affinities for their specific binding sites on the NMDA receptor complex. Although some NMDA blockers produced profound behavioral side effects at efficacious doses (e.g., noncompetitive antagonists), others (e.g., some low-affinity channel blockers, some competitive antagonists, and glycine antagonists) demonstrated significant and favorable separation between their anticonvulsant and side effect profiles. The present results provide the most extensive evidence to date identifying NMDA receptor blockade as a potential strategy for the discovery of agents for clinical use in averting toxic sequelae from cocaine overdose. Given the literature suggesting a role for these drugs in other areas of drug abuse treatments, NMDA receptor antagonists sit in a unique position as potential therapeutic candidates.  (+info)

Neurotoxicity and behavioral effects of thiram in rats. (5/764)

Eight of 24 female rats fed 66.9 mg/kg-day of thiram developed neurotoxicity. The neurotoxic effects were characterized by ataxia and paralysis of the hind legs. There were demyelination, degeneration of the axis cylinders, and presence of macrophages in the nerve bundle of the sciatic nerve. Degeneration in the ventral horn of the lower lumbar region of the spinal cord was evidenced by chromatolysis of motorneurons, pyknosis, and satellitosis. During a second experiment, 4 of 24 females fed 65.8 mg/kg--day also developed ataxia and paralysis. An additional 9 females showed clasping of the hind feet when picked up by the tail. Nerve conduction could not be measured for one severely ataxic rat and the electromyogram indicated a loss of motor unit function. Histopathology of this rat, along with the others, suggests the peripheral nerve as the primary site of the lesion. Thiram also caused behavioral changes in apparently normal rats. The walking pattern of the hind legs was altered with decreases in stride width and the angle between contralateral steps. These rats required significantly more shock-motivations and cleared a lower height in a jump/climb ability test. An open-field study indicated that thiram caused hyperactivity in the nonataxic rats of both sexes. Three of 24 rats fed 95.8 mg/kg-day of ferbam also developed ataxia or paralysis.  (+info)

A lysosomal storage disease induced by Ipomoea carnea in goats in Mozambique. (6/764)

A novel plant-induced lysosomal storage disease was observed in goats from a village in Mozambique. Affected animals were ataxic, with head tremors and nystagmus. Because of a lack of suitable feed, the animals consumed an exotic hedge plant growing in the village that was identified as Ipomoea carnea (shrubby morning glory, Convolvulaceae). The toxicosis was reproduced by feeding I. carnea plant material to goats. In acute cases, histologic changes in the brain and spinal cord comprised widespread cytoplasmic vacuolation of neurons and glial cells in association with axonal spheroid formation. Ultrastructurally, cytoplasmic storage vacuoles in neurons were membrane bound and consistent with lysosomes. Cytoplasmic vacuolation was also found in neurons in the submucosal and mesenteric plexuses in the small intestine, in renal tubular epithelial cells, and in macrophage-phagocytic cells in the spleen and lymph nodes in acute cases. Residual alterations in the brain in chronic cases revealed predominantly cerebellar lesions characterized by loss of Purkinje neurons and gliosis of the Purkinje cell layer. Analysis of I. carnea plant material by gas chromatography-mass spectrometry established the presence of the mannosidase inhibitor swainsonine and 2 glycosidase inhibitors, calystegine B2 and calystegine C1, consistent with a plant-induced alpha-mannosidosis in the goats. The described storage disorder is analogous to the lysosomal storage diseases induced by ingestion of locoweeds (Astragalus and Oxytropis) and poison peas (Swainsona).  (+info)

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (7/764)

Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p13 have recently been shown to associate with EA1. A Scottish family with EA1 harbouring a novel mutation in this gene is reported. Of the five affected individuals over three generations, two had partial epilepsy in addition to EA1. The detailed clinical, electrophysiological and molecular genetic findings are presented. The heterozygous point mutation is located at nucleotide position 677 and results in a radical amino acid substitution at a highly conserved position in the second transmembrane domain of the potassium channel. Functional studies indicated that mutant subunits exhibited a dominant negative effect on potassium channel function and would be predicted to impair neuronal repolarization. Potassium channels determine the excitability of neurons and blocking drugs are proconvulsant. A critical review of previously reported EA1 families shows an over-representation of epilepsy in family members with EA1 compared with unaffected members. These observations indicate that this mutation is pathogenic and suggest that the epilepsy in EA1 may be caused by the dysfunctional potassium channel. It is possible that such dysfunction may be relevant to other epilepsies in man.  (+info)

Neurotoxic effects of 2,5-hexanedione on normal and neurofilament-deficient quail. (8/764)

The neurotoxic effects of 2,5-hexanedione (2,5-HD) were investigated using neurofilament (NF)-deficient (Quv) Japanese quail in comparison with normal Japanese quail. Both Quv and normal Japanese quail were inoculated intraperitoneally with 350 mg/kg/day 2,5-HD for 6 consecutive wk. The results of 2,5-HD exposure differed substantially between the 2 strains of Japanese quail. The 2,5-HD-exposed normal quail showed leg paralysis about 4 wk after initiation of dosing. Some treated normal quail fell into dysstasia and died of nutritional disturbances. Histologically, 2,5-HD-treated normal quail had NF-rich axonal swellings and degeneration in the distal parts of the peripheral nerves, spinal cord, and cerebellar peduncles. In contrast, 2,5-HD-injected Quv quail showed tonic convulsion, ataxia gait, severe quivering, and excitation about 2-3 days after administration. Some treated Quv birds died immediately after systemic tonic convulsion, probably because of asphyxia. Although all treated Quv quail showed neurologic signs, there were no recognizable 2,5-HD-induced lesions in the nervous system. After about 4-6 wk of dosing, 2,5-HD induced distal axonopathy in normal quail and acute neurotoxicity in Quv quail.  (+info)

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Friedreich Ataxia is a genetic disorder that affects the nervous system and causes issues with movement. It is characterized by progressive damage to the nerves (neurons) in the spinal cord and peripheral nerves, which can lead to problems with muscle coordination, gait, speech, and hearing. The condition is also associated with heart disorders, diabetes, and vision impairment.

Friedreich Ataxia is caused by a mutation in the FXN gene, which provides instructions for making a protein called frataxin. This protein plays a role in the production of energy within cells, particularly in the mitochondria. The mutation in the FXN gene leads to reduced levels of frataxin, which can cause nerve damage and other symptoms associated with Friedreich Ataxia.

The condition typically begins in childhood or early adulthood and progresses over time, often leading to significant disability. There is currently no cure for Friedreich Ataxia, but treatments are available to help manage the symptoms and improve quality of life.

Spinocerebellar ataxias (SCAs) are a group of genetic disorders that affect the cerebellum, which is the part of the brain responsible for coordinating muscle movements. SCAs are characterized by progressive problems with balance, speech, and coordination. They are caused by mutations in various genes that result in the production of abnormal proteins that accumulate in neurons, leading to their degeneration.

There are over 40 different types of SCAs, each caused by a different genetic mutation. Some of the more common types include SCA1, SCA2, SCA3, SCA6, and SCA7. The symptoms and age of onset can vary widely depending on the type of SCA.

In addition to problems with coordination and balance, people with SCAs may also experience muscle weakness, stiffness, tremors, spasticity, and difficulty swallowing or speaking. Some types of SCAs can also cause visual disturbances, hearing loss, and cognitive impairment. Currently, there is no cure for SCAs, but treatments such as physical therapy, speech therapy, and medications can help manage the symptoms.

Gait ataxia is a type of ataxia, which refers to a lack of coordination or stability, specifically involving walking or gait. It is characterized by an unsteady, uncoordinated, and typically wide-based gait pattern. This occurs due to dysfunction in the cerebellum or its connecting pathways, responsible for maintaining balance and coordinating muscle movements.

In gait ataxia, individuals often have difficulty with controlling the rhythm and pace of their steps, tend to veer or stagger off course, and may display a reeling or stumbling motion while walking. They might also have trouble performing rapid alternating movements like quickly tapping their foot or heel. These symptoms are usually worse when the person is tired or attempting to walk in the dark.

Gait ataxia can be caused by various underlying conditions, including degenerative neurological disorders (e.g., cerebellar atrophy, multiple sclerosis), stroke, brain injury, infection (e.g., alcoholism, HIV), or exposure to certain toxins. Proper diagnosis and identification of the underlying cause are essential for effective treatment and management of gait ataxia.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Iron-binding proteins, also known as transferrins, are a type of protein responsible for the transport and storage of iron in the body. They play a crucial role in maintaining iron homeostasis by binding free iron ions and preventing them from participating in harmful chemical reactions that can produce reactive oxygen species (ROS) and cause cellular damage.

Transferrin is the primary iron-binding protein found in blood plasma, while lactoferrin is found in various exocrine secretions such as milk, tears, and saliva. Both transferrin and lactoferrin have a similar structure, consisting of two lobes that can bind one ferric ion (Fe3+) each. When iron is bound to these proteins, they are called holo-transferrin or holo-lactoferrin; when they are unbound, they are referred to as apo-transferrin or apo-lactoferrin.

Iron-binding proteins have a high affinity for iron and can regulate the amount of free iron available in the body. They help prevent iron overload, which can lead to oxidative stress and cellular damage, as well as iron deficiency, which can result in anemia and other health problems.

In summary, iron-binding proteins are essential for maintaining iron homeostasis by transporting and storing iron ions, preventing them from causing harm to the body's cells.

Machado-Joseph Disease (MJD) is a genetic disorder that affects the part of the brain that controls movement. It is also known as spinocerebellar ataxia type 3 (SCA3). MJD is characterized by progressive problems with coordination, speech, and swallowing, along with muscle stiffness, tremors, and in some cases, eye movement abnormalities.

MJD is caused by a mutation in the ATXN3 gene, which results in an expanded CAG repeat sequence. This genetic defect leads to the production of an abnormal protein that accumulates in nerve cells, causing them to die. The severity and age of onset of MJD can vary widely, even within families, but symptoms typically begin between the ages of 10 and 60.

MJD is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing mutation from an affected parent. Currently, there is no cure for MJD, but treatments can help manage symptoms and improve quality of life.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

The cerebellum is a part of the brain that lies behind the brainstem and is involved in the regulation of motor movements, balance, and coordination. It contains two hemispheres and a central portion called the vermis. The cerebellum receives input from sensory systems and other areas of the brain and spinal cord and sends output to motor areas of the brain. Damage to the cerebellum can result in problems with movement, balance, and coordination.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Purkinje cells are a type of neuron located in the cerebellar cortex, which is the outer layer of the cerebellum, a part of the brain that plays a crucial role in motor control and coordination. These cells have large branching dendrites and receive input from many other neurons, particularly granule cells. The axons of Purkinje cells form the principal output pathway of the cerebellar cortex, synapsing with deep cerebellar nuclei. They are named after Johannes Evangelista Purkinje, a Czech physiologist who first described them in 1837.

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.

Protein-Serine-Threonine Kinases (PSTKs) are a type of protein kinase that catalyzes the transfer of a phosphate group from ATP to the hydroxyl side chains of serine or threonine residues on target proteins. This phosphorylation process plays a crucial role in various cellular signaling pathways, including regulation of metabolism, gene expression, cell cycle progression, and apoptosis. PSTKs are involved in many physiological and pathological processes, and their dysregulation has been implicated in several diseases, such as cancer, diabetes, and neurodegenerative disorders.

Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.

Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:

1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions

Some examples of cerebellar diseases include:

1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal

Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.

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.

Ocular motility disorders refer to a group of conditions that affect the movement of the eyes. These disorders can result from nerve damage, muscle dysfunction, or brain injuries. They can cause abnormal eye alignment, limited range of motion, and difficulty coordinating eye movements. Common symptoms include double vision, blurry vision, strabismus (crossed eyes), nystagmus (involuntary eye movement), and difficulty tracking moving objects. Ocular motility disorders can be congenital or acquired and may require medical intervention to correct or manage the condition.

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.

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, which provides instructions for making a protein called fragile X mental retardation protein (FMRP). This protein is essential for normal brain development.

In people with Fragile X syndrome, the FMR1 gene is missing a critical piece of DNA, leading to little or no production of FMRP. As a result, the brain's nerve cells cannot develop and function normally, which can cause a range of developmental problems, including learning disabilities, cognitive impairment, and behavioral and emotional difficulties.

Fragile X syndrome is the most common form of inherited intellectual disability, affecting about 1 in 4,000 males and 1 in 8,000 females. The symptoms and severity can vary widely, but most people with Fragile X syndrome have some degree of intellectual disability, ranging from mild to severe. They may also have physical features associated with the condition, such as a long face, large ears, flexible joints, and flat feet.

There is no cure for Fragile X syndrome, but early intervention and treatment can help improve outcomes. Treatment typically involves a combination of educational support, behavioral therapy, speech and language therapy, physical therapy, and medication to manage symptoms such as anxiety, hyperactivity, and aggression.

Apraxia is a motor disorder characterized by the inability to perform learned, purposeful movements despite having the physical ability and mental understanding to do so. It is not caused by weakness, paralysis, or sensory loss, and it is not due to poor comprehension or motivation.

There are several types of apraxias, including:

1. Limb-Kinematic Apraxia: This type affects the ability to make precise movements with the limbs, such as using tools or performing complex gestures.
2. Ideomotor Apraxia: In this form, individuals have difficulty executing learned motor actions in response to verbal commands or visual cues, but they can still perform the same action when given the actual object to use.
3. Ideational Apraxia: This type affects the ability to sequence and coordinate multiple steps of a complex action, such as dressing oneself or making coffee.
4. Oral Apraxia: Also known as verbal apraxia, this form affects the ability to plan and execute speech movements, leading to difficulties with articulation and speech production.
5. Constructional Apraxia: This type impairs the ability to draw, copy, or construct geometric forms and shapes, often due to visuospatial processing issues.

Apraxias can result from various neurological conditions, such as stroke, brain injury, dementia, or neurodegenerative diseases like Parkinson's disease and Alzheimer's disease. Treatment typically involves rehabilitation and therapy focused on retraining the affected movements and compensating for any residual deficits.

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.

Dysarthria is a motor speech disorder that results from damage to the nervous system, particularly the brainstem or cerebellum. It affects the muscles used for speaking, causing slurred, slow, or difficult speech. The specific symptoms can vary depending on the underlying cause and the extent of nerve damage. Treatment typically involves speech therapy to improve communication abilities.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Fragile X Mental Retardation Protein (FMRP) is a protein encoded by the FMR1 gene in humans. It is an RNA-binding protein that plays a critical role in regulating the translation and stability of mRNAs, particularly those involved in synaptic plasticity and neuronal development.

Mutations in the FMR1 gene, leading to the absence or reduction of FMRP, have been associated with Fragile X syndrome (FXS), which is the most common inherited form of intellectual disability and the leading genetic cause of autism spectrum disorder (ASD). In FXS, the lack of FMRP leads to an overproduction of proteins at synapses, resulting in altered neuronal connectivity and dysfunctional synaptic plasticity.

FMRP is widely expressed in various tissues, but it has a particularly high expression level in the brain, where it regulates the translation of mRNAs involved in learning, memory, and other cognitive functions. FMRP also interacts with several other proteins involved in neuronal development and function, such as ion channels, receptors, and signaling molecules.

Overall, Fragile X Mental Retardation Protein is a crucial regulator of synaptic plasticity and neuronal development, and its dysfunction has been linked to various neurodevelopmental disorders, including Fragile X syndrome, autism spectrum disorder, and intellectual disability.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

Pathological nystagmus is an abnormal, involuntary movement of the eyes that can occur in various directions (horizontal, vertical, or rotatory) and can be rhythmical or arrhythmic. It is typically a result of a disturbance in the vestibular system, central nervous system, or ocular motor pathways. Pathological nystagmus can cause visual symptoms such as blurred vision, difficulty with fixation, and oscillopsia (the sensation that one's surroundings are moving). The type, direction, and intensity of the nystagmus may vary depending on the underlying cause, which can include conditions such as brainstem or cerebellar lesions, multiple sclerosis, drug toxicity, inner ear disorders, and congenital abnormalities.

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.

Kv1.1 potassium channel, also known as KCNA1, is a type of voltage-gated potassium channel that plays a crucial role in the regulation of electrical excitability in neurons and other excitable cells. It is encoded by the KCNA1 gene located on chromosome 12p13.

The Kv1.1 channel is composed of four α-subunits, each containing six transmembrane domains with a pore-forming region between the fifth and sixth domains. These channels are responsible for the rapid repolarization of action potentials in neurons, which helps to control the frequency and pattern of neural activity.

Mutations in the KCNA1 gene have been associated with various neurological disorders, including episodic ataxia type 1 (EA1) and familial hemiplegic migraine (FHM). EA1 is characterized by brief episodes of cerebellar ataxia, myokymia, and neuromyotonia, while FHM is a severe form of migraine with aura that can cause temporary paralysis on one side of the body.

Overall, Kv1.1 potassium channels play an essential role in maintaining normal neural excitability and are critical for proper neurological function.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

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.

Neurologic mutant mice are genetically engineered or spontaneously mutated rodents that are used as models to study various neurological disorders and conditions. These mice have specific genetic modifications or mutations that affect their nervous system, leading to phenotypes that resemble human neurological diseases.

Some examples of neurologic mutant mice include:

1. Alzheimer's disease models: Mice that overexpress genes associated with Alzheimer's disease, such as the amyloid precursor protein (APP) or presenilin 1 (PS1), to study the pathogenesis and potential treatments of this disorder.
2. Parkinson's disease models: Mice that have genetic mutations in genes associated with Parkinson's disease, such as alpha-synuclein or parkin, to investigate the mechanisms underlying this condition and develop new therapies.
3. Huntington's disease models: Mice that carry an expanded CAG repeat in the huntingtin gene to replicate the genetic defect seen in humans with Huntington's disease and study disease progression and treatment strategies.
4. Epilepsy models: Mice with genetic mutations that cause spontaneous seizures or increased susceptibility to seizures, used to investigate the underlying mechanisms of epilepsy and develop new treatments.
5. Stroke models: Mice that have surgical induction of stroke or genetic modifications that increase the risk of stroke, used to study the pathophysiology of stroke and identify potential therapeutic targets.

Neurologic mutant mice are essential tools in biomedical research, allowing scientists to investigate the complex interactions between genes and the environment that contribute to neurological disorders. These models help researchers better understand disease mechanisms, develop new therapies, and test their safety and efficacy before moving on to clinical trials in humans.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

Intranuclear inclusion bodies are abnormal, rounded structures found within the nucleus of a cell. They are composed of aggregated proteins or other cellular components and can be associated with various viral infections and certain genetic disorders. These inclusion bodies can interfere with normal nuclear functions, leading to cell damage and contributing to the pathogenesis of diseases such as cytomegalovirus infection, rabies, and some forms of neurodegenerative disorders like polyglutamine diseases. The presence of intranuclear inclusion bodies is often used in diagnostic pathology to help identify specific underlying conditions.

Olivopontocerebellar atrophies (OPCA) are a group of rare, progressive neurodegenerative disorders that primarily affect the cerebellum, olive (inferior olivary nucleus), and pons in the brainstem. The condition is characterized by degeneration and atrophy of these specific areas, leading to various neurological symptoms.

The term "olivopontocerebellar atrophies" encompasses several subtypes, including:

1. Hereditary spastic paraplegia with cerebellar ataxia (SPG/ATA) - Autosomal dominant or recessive inheritance pattern.
2. Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) - Autosomal dominant inheritance pattern.
3. Idiopathic OPCA - No known genetic cause, possibly related to environmental factors or spontaneous mutations.

Symptoms of olivopontocerebellar atrophies may include:

* Progressive cerebellar ataxia (gait and limb incoordination)
* Dysarthria (slurred speech)
* Oculomotor abnormalities (nystagmus, gaze palsy)
* Spasticity (stiffness and rigidity of muscles)
* Dysphagia (difficulty swallowing)
* Tremors or dystonia (involuntary muscle contractions)

Diagnosis typically involves a combination of clinical examination, neuroimaging studies (MRI), genetic testing, and exclusion of other possible causes. Currently, there is no cure for olivopontocerebellar atrophies, but supportive care can help manage symptoms and improve quality of life.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Heredodegenerative disorders of the nervous system are a group of inherited conditions that involve progressive degeneration of the nervous system over time. These disorders are caused by genetic mutations that affect the development and function of nerve cells in the brain and spinal cord. The symptoms and severity of these disorders can vary widely, depending on the specific condition and the location and extent of nerve cell damage.

Examples of heredodegenerative disorders of the nervous system include:

1. Huntington's disease: a genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to uncontrolled movements, emotional problems, and cognitive decline.
2. Friedreich's ataxia: an inherited disorder that affects the nerves and muscle coordination, causing symptoms such as difficulty walking, poor balance, and speech problems.
3. Spinal muscular atrophy: a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and wasting.
4. Hereditary sensory and autonomic neuropathies: a group of inherited disorders that affect the nerves that control sensation and automatic functions such as heart rate and digestion.
5. Leukodystrophies: a group of genetic disorders that affect the white matter of the brain, leading to symptoms such as motor and cognitive decline, seizures, and vision loss.

Treatment for heredodegenerative disorders of the nervous system typically focuses on managing symptoms and improving quality of life. There is no cure for most of these conditions, but research is ongoing to develop new treatments and therapies that may help slow or stop the progression of nerve cell damage.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including Parkinsonism (such as stiffness, slowness of movement, and tremors), cerebellar ataxia (lack of muscle coordination), autonomic dysfunction (problems with the autonomic nervous system which controls involuntary actions like heart rate, blood pressure, sweating, and digestion), and pyramidal signs (abnormalities in the corticospinal tracts that control voluntary movements).

The disorder is caused by the degeneration of nerve cells in various parts of the brain and spinal cord, leading to a loss of function in these areas. The exact cause of MSA is unknown, but it is thought to involve a combination of genetic and environmental factors. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life.

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.

Gliadin is a protein fraction found in gluten, a complex protein that's present in certain grains such as wheat, barley, and rye. It is particularly known for its role in celiac disease, a disorder where the ingestion of gluten leads to an immune response that damages the lining of the small intestine.

Gliadin, along with another protein fraction called glutenin, makes up gluten. Gliadin is responsible for the elastic properties of dough. When water is added to flour and mixed, these proteins form a sticky network that gives dough its characteristic texture and allows it to rise and maintain its shape during baking.

In individuals with celiac disease, the immune system recognizes gliadin as a foreign invader and mounts an immune response against it. This response leads to inflammation and damage in the small intestine, preventing the absorption of nutrients from food. Over time, this can lead to various health complications if not properly managed through a gluten-free diet.

Vitamin E deficiency is a condition that occurs when there is a lack of sufficient vitamin E in the body. Vitamin E is a fat-soluble antioxidant that plays an essential role in maintaining the health of cell membranes, protecting them from damage caused by free radicals. It also helps to support the immune system and promotes healthy blood vessels and nerves.

Vitamin E deficiency can occur due to several reasons, including malnutrition, malabsorption disorders such as cystic fibrosis or celiac disease, premature birth, or genetic defects affecting the alpha-tocopherol transfer protein (alpha-TTP), which is responsible for transporting vitamin E from the liver to other tissues.

Symptoms of vitamin E deficiency may include:

* Neurological problems such as peripheral neuropathy, ataxia (loss of coordination), and muscle weakness
* Retinopathy (damage to the retina) leading to vision loss
* Increased susceptibility to oxidative stress and inflammation
* Impaired immune function

Vitamin E deficiency is rare in healthy individuals who consume a balanced diet, but it can occur in people with certain medical conditions or those who have undergone bariatric surgery. In these cases, supplementation may be necessary to prevent or treat vitamin E deficiency.

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.

Calcium channels, Q-type, are a type of voltage-gated calcium channel found in various tissues, including the brain and heart. They are called "Q-type" because they exhibit a distinctive "q-wave" in their current trace during electrical activity. These channels play important roles in regulating physiological processes such as neurotransmitter release, hormone secretion, and cardiac muscle contraction.

The pore-forming subunit of Q-type calcium channels is the CaV2.1 (or α1A) subunit, which is encoded by the CACNA1A gene. These channels are activated by depolarization of the cell membrane and allow the influx of calcium ions into the cell. The resulting increase in intracellular calcium concentration triggers various downstream signaling pathways that mediate the physiological responses mentioned above.

Dysfunction of Q-type calcium channels has been implicated in several neurological and cardiovascular disorders, including migraine, epilepsy, cerebellar ataxia, and hypertension. Therefore, understanding the structure, function, and regulation of these channels is an important area of research for developing new therapeutic strategies to treat these conditions.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Calcium channels, P-type, are a specific type of voltage-gated calcium channel found in excitable cells such as neurons and muscle cells. They are named "P-type" because they were initially identified in Purkinje cells of the cerebellum. These channels play a crucial role in various cellular processes, including neurotransmitter release, muscle contraction, and gene expression.

P-type calcium channels are characterized by their unique biophysical properties, such as slow voltage-dependent activation and inactivation, as well as sensitivity to the drug felodipine. They are composed of several subunits, including the pore-forming α1 subunit, which contains the voltage sensor and the selectivity filter for calcium ions. The α1 subunit is associated with accessory subunits, such as β, γ, and δ, that modulate the channel's properties and trafficking to the cell membrane.

P-type calcium channels are important targets for therapeutic interventions in various diseases, including neurological disorders, cardiovascular diseases, and cancer. For example, drugs that block P-type calcium channels have been used to treat hypertension and angina, while activators of these channels have shown promise in treating neurodegenerative disorders such as Parkinson's disease.

Neurodegenerative diseases are a group of disorders characterized by progressive and persistent loss of neuronal structure and function, often leading to cognitive decline, functional impairment, and ultimately death. These conditions are associated with the accumulation of abnormal protein aggregates, mitochondrial dysfunction, oxidative stress, chronic inflammation, and genetic mutations in the brain. Examples of neurodegenerative diseases include Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic Lateral Sclerosis (ALS), and Spinal Muscular Atrophy (SMA). The underlying causes and mechanisms of these diseases are not fully understood, and there is currently no cure for most neurodegenerative disorders. Treatment typically focuses on managing symptoms and slowing disease progression.

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.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

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.

Checkpoint Kinase 2 (Chk2) is a serine/threonine protein kinase that plays a crucial role in the DNA damage response and the regulation of the cell cycle. It is activated by various types of DNA damage, including double-strand breaks, and phosphorylates several downstream targets involved in cell cycle arrest, DNA repair, and apoptosis. Chk2 is a key player in the G2/M checkpoint, which prevents cells with damaged DNA from entering mitosis and dividing. Mutations in the Chk2 gene have been associated with increased risk of cancer.

Ionizing radiation is a type of radiation that carries enough energy to ionize atoms or molecules, which means it can knock electrons out of their orbits and create ions. These charged particles can cause damage to living tissue and DNA, making ionizing radiation dangerous to human health. Examples of ionizing radiation include X-rays, gamma rays, and some forms of subatomic particles such as alpha and beta particles. The amount and duration of exposure to ionizing radiation are important factors in determining the potential health effects, which can range from mild skin irritation to an increased risk of cancer and other diseases.

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.

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.

Miller Fisher Syndrome (MFS) is a rare neurological disorder that is considered a variant of Guillain-Barré syndrome. It is characterized by the triad of symptoms including ophthalmoplegia (paralysis of the eye muscles), ataxia (loss of coordination and balance), and areflexia (absence of reflexes). Some patients may also experience weakness or paralysis in the limbs, and some cases may involve bulbar symptoms such as dysphagia (difficulty swallowing) and dysarthria (slurred speech). The syndrome is caused by an immune response that damages the nerves, and it often follows a viral infection. Treatment typically includes supportive care, plasma exchange, or intravenous immunoglobulin therapy to help reduce the severity of the symptoms.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

An abnormal reflex in a medical context refers to an involuntary and exaggerated response or lack of response to a stimulus that is not expected in the normal physiological range. These responses can be indicative of underlying neurological disorders or damage to the nervous system. Examples include hyperreflexia (overactive reflexes) and hyporeflexia (underactive reflexes). The assessment of reflexes is an important part of a physical examination, as it can provide valuable information about the functioning of the nervous system.

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.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

The cerebellar nuclei are clusters of neurons located within the white matter of the cerebellum, a region of the brain responsible for motor coordination, balance, and fine movement regulation. There are four main pairs of cerebellar nuclei: the fastigial, interpositus, dentate, and vestibular nuclei. These nuclei receive input from various parts of the cerebellar cortex and project to different areas of the brainstem and thalamus, contributing to the regulation of muscle tone, posture, and movement.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Ophthalmoplegia is a medical term that refers to the paralysis or weakness of the eye muscles, which can result in double vision (diplopia) or difficulty moving the eyes. It can be caused by various conditions, including nerve damage, muscle disorders, or neurological diseases such as myasthenia gravis or multiple sclerosis. Ophthalmoplegia can affect one or more eye muscles and can be partial or complete. Depending on the underlying cause, ophthalmoplegia may be treatable with medications, surgery, or other interventions.

Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.

Optic atrophy can occur due to a variety of causes, such as:

* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.

The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.

There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.

Hypoalbuminemia is a medical condition characterized by having lower than normal levels of albumin in the blood. Albumin is a type of protein produced by the liver, and it plays a crucial role in maintaining oncotic pressure (the force that keeps fluid inside blood vessels) and transporting various substances throughout the body.

A serum albumin level below 3.5 g/dL (grams per deciliter) is generally considered hypoalbuminemia, although some laboratories may define it as a level below 3.4 g/dL or even lower. This condition can be caused by various factors, including liver disease, malnutrition, kidney disease, inflammation, and protein-losing enteropathy (a disorder that causes excessive loss of protein in the gastrointestinal tract).

Hypoalbuminemia is often associated with poorer clinical outcomes in several medical conditions, such as increased risk of infection, longer hospital stays, and higher mortality rates. It's essential to identify and address the underlying cause of hypoalbuminemia for appropriate treatment and improved patient outcomes.

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.

Shaw potassium channels, also known as KCNA4 channels, are a type of voltage-gated potassium channel that is encoded by the KCNA4 gene in humans. These channels play a crucial role in regulating the electrical excitability of cells, particularly in the heart and nervous system.

Shaw channels are named after James E. Shaw, who first identified them in 1996. They are composed of four subunits that arrange themselves to form a central pore through which potassium ions can flow. The channels are activated by depolarization of the cell membrane and help to repolarize the membrane during action potentials.

Mutations in the KCNA4 gene have been associated with various cardiac arrhythmias, including familial atrial fibrillation and long QT syndrome type 3. These conditions can cause irregular heart rhythms and may increase the risk of sudden cardiac death. Therefore, understanding the function and regulation of Shaw potassium channels is important for developing therapies to treat these disorders.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Double-stranded DNA breaks (DSBs) refer to a type of damage that occurs in the DNA molecule when both strands of the double helix are severed or broken at the same location. This kind of damage is particularly harmful to cells because it can disrupt the integrity and continuity of the genetic material, potentially leading to genomic instability, mutations, and cell death if not properly repaired.

DSBs can arise from various sources, including exposure to ionizing radiation, chemical agents, free radicals, reactive oxygen species (ROS), and errors during DNA replication or repair processes. Unrepaired or incorrectly repaired DSBs have been implicated in numerous human diseases, such as cancer, neurodegenerative disorders, and premature aging.

Cells possess several mechanisms to repair double-stranded DNA breaks, including homologous recombination (HR) and non-homologous end joining (NHEJ). HR is a more accurate repair pathway that uses a homologous template, typically the sister chromatid, to restore the original DNA sequence. NHEJ, on the other hand, directly ligates the broken ends together, often resulting in small deletions or insertions at the break site and increased risk of errors. The choice between these two pathways depends on various factors, such as the cell cycle stage, the presence of nearby breaks, and the availability of repair proteins.

In summary, double-stranded DNA breaks are severe forms of DNA damage that can have detrimental consequences for cells if not properly repaired. Cells employ multiple mechanisms to address DSBs, with homologous recombination and non-homologous end joining being the primary repair pathways.

Human chromosome pair 19 refers to a group of 19 identical chromosomes that are present in every cell of the human body, except for the sperm and egg cells which contain only 23 chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of DNA (deoxyribonucleic acid) molecules.

Each chromosome is made up of two arms, a shorter p arm and a longer q arm, separated by a centromere. Human chromosome pair 19 is an acrocentric chromosome, which means that the centromere is located very close to the end of the short arm (p arm).

Chromosome pair 19 contains approximately 58 million base pairs of DNA and encodes for around 1,400 genes. It is one of the most gene-dense chromosomes in the human genome, with many genes involved in important biological processes such as metabolism, immunity, and neurological function.

Abnormalities in chromosome pair 19 have been associated with various genetic disorders, including Sotos syndrome, which is characterized by overgrowth, developmental delay, and distinctive facial features, and Smith-Magenis syndrome, which is marked by intellectual disability, behavioral problems, and distinct physical features.

It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Dystaxia is a mild degree of ataxia. The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. Novel therapies target the RNA defects associated ...
Ataxia". The Times.{{cite web}}: CS1 maint: url-status (link)[dead link] Flander, Matthew (2008-11-10). "Ataxia". Popmatters. ... All songs on Ataxia were written and performed by Robert Pollard, Todd Tobias, and Tim Tobias. Steve Five for Skyscraper ... Ataxia is the sixth studio album released by the American alternative/psychedelic rock band Circus Devils on October 31, 2008. ... Ataxia is Yes's Tales From Topographic Oceans remade in miniature from pottery fragments and human toenail clippings. ...
... is a species of beetle in the family Cerambycidae. It was described by Stephan von Breuning in 1940. It is ... BioLib.cz - Ataxia cayennensis. Retrieved on 8 September 2014. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, ...
... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia ... ataxia at NINDS msa at NINDS opca_doc at NINDS MedlinePlus Encyclopedia: Olivopontocerebellar atrophy Spinocerebellar ataxia 27 ...
... is a species of beetle in the family Cerambycidae. It was described by Wilhelm Ferdinand Erichson in 1848, ... BioLib.cz - Ataxia operaria. Retrieved 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1848, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1866. It is known ... BioLib.cz - Ataxia mucronata. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Taxonbars with automatically added original combinations, Ataxia (beetle), ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1885. It is ... BioLib.cz - Ataxia nivisparsa. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1885, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Louis Alexandre Auguste Chevrolat in ... BioLib.cz - Ataxia spinipennis. Retrieved on 8 September 2014. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1862, All stub articles, ...
... is a species of beetle in the family Cerambycidae. It was described by Schaeffer in 1904. It is known from ... BioLib.cz - Ataxia spinicauda. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1904, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by James Thomson in 1868. It is known ... BioLib.cz - Ataxia acutipennis. Retrieved on 8 September 2014. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Taxonbars with automatically added original combinations, Ataxia ( ...
... is both a symptom and a sign in neurology. It is a form of ataxia (loss of coordination) caused not by ... Sensory ataxia also lacks the associated features of cerebellar ataxia such as pendular tendon reflexes, scanning dysarthria, ... Sensory ataxia is distinguished from cerebellar ataxia by the presence of near-normal coordination when the movement is ... Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N (September 2008). "Autosomal dominant sensory ataxia: a ...
The Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize ... "Friedreich Ataxia Fact Sheet". Archived from the original on 23 January 2019. Retrieved 10 February 2019. "Friedreich ataxia ... Other diagnoses might include Charcot-Marie-Tooth types 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia ... Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017- ...
... is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs. It is ... Truncal ataxia is caused by midline damage to the cerebellar vermis. There are at least 34 conditions that cause truncal ataxia ... Truncal ataxia (or trunk ataxia) is a wide-based "drunken sailor" gait characterised by uncertain starts and stops, lateral ... As a result of this gait impairment, falling is a concern in patients with ataxia. Truncal ataxia affects the muscles closer to ...
Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". ... Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. Primary auto-immune ataxias (PACA) ... Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical ... Drugs have only been studied in degenerative ataxia, and the level of evidence is low." Some effects of cerebellar ataxia may ...
GeneReviews/NCBI/NIH/UW entry on Episodic Ataxia Type 1, Episodic Ataxia with Myokymia, Hereditary Cerebellar Ataxia with ... Also known as periodic vestibulocerebellar ataxia, type-4 episodic ataxia (EA4) is an extremely rare form of episodic ataxia ... Type-6 episodic ataxia (EA6) is a rare form of episodic ataxia, identified initially in a 10-year-old boy who first presented ... Typically, episodic ataxia presents as bouts of ataxia induced by startle, stress, or exertion. Some patients also have ...
Ataxia wrote and recorded songs for two weeks, and the material was separated into two albums: Automatic Writing (2004) and AW ... Ataxia performed two shows, both at the Knitting Factory in Los Angeles, on February 2 and February 3, 2004. Following this, ... Ataxia was a short-lived American experimental rock supergroup formed in 2004 by guitarist John Frusciante (Red Hot Chili ...
... is a species of beetle in the family Cerambycidae. It was described by Johan Christian Fabricius in 1801. It is ... BioLib.cz - Ataxia obscura. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1801, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1885. It is known ... BioLib.cz - Ataxia illita. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1885, All stub articles, Pteropliini ...
"Ataxia setulosa". Journal of the New York Entomological Society. New York Entomological Society. XV: 84. BioLib.cz - Ataxia ... Ataxia setulosa is a species of beetle in the family Cerambycidae. It was described by Fall in 1907. On males, the antennae are ... v t e (Articles with short description, Short description matches Wikidata, Articles with 'species' microformats, Ataxia ( ...
... is a species of beetle in the family Cerambycidae. It was described by Thomas Say in 1831, originally under the ... BioLib.cz - Ataxia crypta. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1831, All stub articles, Pteropliini ...
Cerebellar ataxia Friedreich ataxia Harding, A. E. (1981). "Early onset cerebellar ataxia with retained tendon reflexes: a ... This form of ataxia is characterized by onset in the first 20 years, and is less severe than Friedreich ataxia. Additional ... Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. This form of cerebellar ... Harding ataxia at the Office of Rare Diseases Research (Articles with short description, Short description matches Wikidata, ...
... is a species of beetle in the family Cerambycidae. It was described by Stephan von Breuning in 1940. It is ... BioLib.cz - Ataxia yucatana. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Warren Samuel Fisher in 1920. It is ... BioLib.cz - Ataxia arizonica. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1920, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Champlain and Knull in 1926. It is known ... BioLib.cz - Ataxia brunnea. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1926, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Warren Samuel Fisher in 1926. It ... BioLib.cz - Ataxia alboscutellata. Retrieved on 8 September 2014. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1926, All stub articles, ...
... is a species of beetle in the family Cerambycidae. It was described by Stephan von Breuning in 1940. It is ... BioLib.cz - Ataxia estoloides. Retrieved on 8 September 2014. v t e (Articles with short description, Short description is ... different from Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1866. It is known ... BioLib.cz - Ataxia prolixa. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Taxonbars with automatically added original combinations, Ataxia (beetle), ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1880. It is known ... BioLib.cz - Ataxia canescens. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1880, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1885. It is ... BioLib.cz - Ataxia fulvifrons. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1885, All stub articles, Pteropliini ...
... is a species of beetle in the family Cerambycidae. It was described by Bruch in 1926. It is known from ... BioLib.cz - Ataxia luteifrons. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1926, All stub articles, Pteropliini ...
It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Dystaxia is a mild degree of ataxia. The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. Novel therapies target the RNA defects associated ...
Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune ... About Ataxia-Telangiectasia (Ataxia-Telangiectasia Childrens Project) * Ataxia - telangiectasia (Medical Encyclopedia) Also in ... Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) * Ataxia-Telangiectasia (For Parents) (Nemours ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems ...
FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9 ... Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of ... FA was the earliest of the inherited ataxias to be distinguished from other locomotor ataxias and is the most common of the ... Friedreich ataxia is a relatively common disorder. It is the most common autosomal recessive ataxia, accounting for ...
Where do you work? I work voluntarily with FARA as the Chief Research Officer and also with the Australian Friedreich Ataxia ... Andr Barbeau (Montreal Clinical Research Institute), who led the Quebec Cooperative Study of Friedreichs Ataxia, initiated in ...
Our generous donors help us fund promising Ataxia research and offer support services to people with Ataxia. Your gift today ... Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now. LEARN MORE! ... VIRTUAL Wisconsin Ataxia Warriors Support Group Meeting. June 17, 2023 @ 12:30 pm - 1:30 pm ... As a member you will receive access to the latest Ataxia news with our e-newsletter and Generations publication. ...
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Montreal Ataxia Chords, from album Automatic Writing ...
Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. *Mark. Cundari, Maurizio LU ; Vestberg, ... as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar ... as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar ... as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar ...
Ataxia-Telangiectasia - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version ... Symptoms of Ataxia-Telangiectasia Incoordination (ataxia) usually develops when children begin to walk, but it may be delayed ... Immune Deficiency Foundation: Ataxia-telangiectasia: General information on ataxia-telangiectasia, including information on ... Ataxia-Telangiectasia By James Fernandez , MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve ...
Ataxia Ireland and 3: The Irish Wheelchair Association. Of course I can only stand fully behind myself 100% though! (pun ...
People with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and trouble ... Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements. ... Ataxia. What is ataxia?. Ataxia is a loss of muscle control. People with ataxia lose muscle control in their arms and legs. ... Key points about ataxia. * People with ataxia lose muscle control in their arms and legs. This may lead to a lack of balance ...
... for trans-resveratrol for the treatment of spinocerebellar ataxia. What is spinocerebellar ataxia? Spinocerebellar ataxia is a ... ATAXIA - ADCA - SCA This blog aims to keep people informed about new developments in the field of research into ataxia. The ... The Ataxia progression of participants will be monitored regularly and compared to what would be expected based upon the Ataxia ... thereby slowing the progression of Ataxia. BioHaven reaffirmed their commitment to the Ataxia community, as well as their ...
My mission is to share reputable Ataxia information in short, simple, digestible servings. I w... ... Ataxia, Did You Know?. En podcast av: Dana Mauro Spela upp senaste ... I want the world to become acquainted with Ataxia and the way it robs someone of their balance, coordination, ability to walk, ... Our American listeners can also listen to Ataxia, Did You Know? at our American site ...
As I personally have processed and accepted my sons diagnosis of Friedreichs ataxia, I do celebrate him and want others to ...
Carp · City News · Friedreichs Ataxia · fundraising · shinny · Stories · West Carleton ·. Jan 16, 2021. ...
Immunodeficiencies , Introduction , Ataxia-Telangiectasia. Ataxia-Telangiectasia Ataxia Telangiectasia (A-T) Childrens Project ... Ataxia Telangiectasia at the National Organization for Rare Disorders, Inc.(NORD).. Ataxia Telangiectasia in the Patient and ... Ataxia Telangiectasia by the Florida Medical Association.. Questions and Answers: Ataxia Telangiectasia by National Institutes ... Virginia Mason Research Center: Ataxia-Telangiectasia Mutation Database. ATbase - a registry of patients with ataxia- ...
FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9 ... Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of ... FA was the earliest of the inherited ataxias to be distinguished from other locomotor ataxias and is the most common of the ... Friedreich ataxia is a relatively common disorder. It is the most common autosomal recessive ataxia, accounting for ...
Motor Ataxia definition, inability to coordinate voluntary muscle movements; unsteady movements and staggering gait. See more. ...
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a disorder of the ... Fragile X-associated tremor/ataxia syndrome. Fragile X Syndrome (Full Mutation). Fragile X syndrome (FXS) is one of the most ... nervous system that can cause tremors and problems with walking, balance (also called ataxia), memory, and mood disorders among ...
Few have heard of the degenerative, deadly disease called Ataxia-telangiectasia (A-T) but a University of Alberta researcher is ... Researcher looks for clues to degenerative, deadly disease called Ataxia-telangiectasia ...
Ataxia. *. Autoimmune Diseases. *. Avascular Necrosis. *. Avascular Necrosis of Femoral Head. *. Back Pain. ...
Cognitive changes in spinocerebellar ataxia type 2.. Valis M, Masopust J, Bažant J, Ríhová Z, Kalnická D, Urban A, Zumrová A, ... Valis M, Masopust J, Bažant J, Ríhová Z, Kalnická D, Urban A, Zumrová A, Hort J. Cognitive changes in spinocerebellar ataxia ... OBJECTIVES: Cognitive disorders and dementia occur in 19 to 42% of patients with spinocerebellar ataxia type 2 (SCA2). ... The level of motor impairment was determined using the brief ataxia rating scale (BARS). The neuropsychological examination ...
Dogs with a pair of CA markers are positive or "affected" and most will have signs of ataxia. Carriers only have one copy of ... At that time, it was presumed to be the same inherited ataxia previously reported in many other breeds. It showed the same ... CEREBELLAR ABIOTROPHY ATAXIA. Many MEhrlichiosis: update February 2021 - Deb Maxwell BVSc embers are aware of criticism ... HISTORY OF WKCS RESEARCH WITH ATAXIA (CA) BEFORE ITS TRANSFER TO SYDNEY UNIVERSITY. - By Dr Don Robertson.. Genes for ...
About Friedreichs ataxia. Friedreichs ataxia is a devastating, orphan genetic disease characterized by loss of coordination ... Specifically, the reduction in decline in upper limb ataxia in Friedreichs ataxia patients demonstrate the potential of ... Friedreichs ataxia is fatal, mainly due to cardiac failure. It affects approximately one in 40,000 people worldwide. There is ... Friedreichs ataxia is a potentially fatal neurodegenerative condition that has severe and worsening symptoms for sufferers. ...
View other providers who treat Ataxia Atherosclerosis * View other providers who treat Atherosclerosis ...
Advanced Topics in Pediatric Neurology I: Ataxia Both in-person and online ...
cerebellar ataxia; degenerative ataxia; implantable subcutaneous direct current stimulation; movement disorder rehabilitation; ... We report a case of a 37-year-old right-handed man who developed moderate degenerative cerebellar ataxia at the age of 18 years ... Degenerative cerebellar ataxias have no pharmacological or rehabilitation evidence-based treatment so far. Patients remain ... Implantable Subcutaneous Peripheral Nerve Stimulation Improves Degenerative Ataxia. Implantable Subcutaneous Peripheral Nerve ...
Ataxia, convulsions, 4 6.7 Mice (nb) ip prostration, death Mice (nb) sc ...
Ataxia-telangiectasia syndrome is characterized by multiple telangiectasias, immune dysfunction, sensitivity to ionizing ... What is the role of ataxia-telangiectasia syndrome in the development of pediatric breast disorders? ...
  • The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. (wikipedia.org)
  • People with cerebellar ataxia may have trouble regulating the force, range, direction, velocity, and rhythm of muscle contractions. (wikipedia.org)
  • citation needed] People with cerebellar ataxia may initially present with poor balance, which could be demonstrated as an inability to stand on one leg or perform tandem gait. (wikipedia.org)
  • As cerebellar ataxia becomes severe, great assistance and effort are needed to stand and walk. (wikipedia.org)
  • Cerebellar ataxia could result with incoordination of movement, particularly in the extremities. (wikipedia.org)
  • Tremor of the head and trunk (titubation) may be seen in individuals with cerebellar ataxia. (wikipedia.org)
  • The cerebellar ataxia is explained by loss of the lateral and ventral spinocerebellar tracts and involvement of the Clarke column, dentate nucleus, superior vermis, and dentatorubral pathways. (medscape.com)
  • The symptoms of patients with CHIP mutations include accelerated aging, hypogonadism, and early onset cerebellar ataxia, which is characterized by difficulties with speech, eye movement, swallowing, and a lack of muscle control or coordination of voluntary movements. (news-medical.net)
  • The aim of this study is to investigate the validity of an entropy-based objective assessment of cerebellar ataxia patients performing rhythmic tapping. (monash.edu)
  • We report a case of a 37-year-old right-handed man who developed moderate degenerative cerebellar ataxia at the age of 18 years. (bvsalud.org)
  • It accounts for at least 50% of cases of hereditary ataxias in most large series. (medscape.com)
  • It is the most common autosomal recessive ataxia, accounting for approximately 50% of all cases of hereditary ataxia. (medscape.com)
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (nih.gov)
  • Hereditary ataxias: overview. (nih.gov)
  • Hereditary ataxia. (brighamandwomens.org)
  • Hereditary ataxia may progress over a number of years. (brighamandwomens.org)
  • Some types of hereditary ataxia start in childhood. (brighamandwomens.org)
  • With hereditary ataxia, a defective gene makes abnormal proteins. (brighamandwomens.org)
  • There is no cure for hereditary ataxia. (brighamandwomens.org)
  • Ataxia-telangiectasia is a hereditary disorder characterized by incoordination, dilated capillaries, and an immunodeficiency that causes increased susceptibility to infections. (msdmanuals.com)
  • Spinocerebellar ataxias, SCA diseases, are a large group of rare, hereditary diseases in which difficulties in coordinating movements are common. (lu.se)
  • Spinocerebellar ataxia type 4 (SCA4) is one such type of hereditary ataxia. (lu.se)
  • Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") 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, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. (wikipedia.org)
  • Although ataxia is not present with all cerebellar lesions, many conditions affecting the cerebellum do produce ataxia. (wikipedia.org)
  • A cerebellar disease characterized by ataxia originating in the cerebellum. (yeastgenome.org)
  • Ataxia-telangiectasia also causes abnormalities in the cerebellum (the part of the brain that coordinates the body's movements), which are unrelated to the immunodeficiency disorder and which result in loss of coordination. (msdmanuals.com)
  • If damage occurs to the cerebellum, possibly through stroke, multiple sclerosis, infection or disease, loss of muscle coordination (ataxia) results. (ctacupuncture.com)
  • Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. (medscape.com)
  • FA was the earliest of the inherited ataxias to be distinguished from other locomotor ataxias and is the most common of the autosomal recessive ataxias. (medscape.com)
  • Published in the Journal of Biological Chemistry , the research shows it is possible to merge analyses of protein biochemistry with patient characteristics to better understand spinocerebellar ataxia autosomal recessive 16, or SCAR16, a debilitating disease that occurs in children when part of the nervous system becomes dysfunctional. (news-medical.net)
  • Fragile X-associated Tremor and Ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused a expanded CGG-repeat in the 5'-UTR region of the FMR1 gene. (eur.nl)
  • Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a disorder of the nervous system that can cause tremors and problems with walking, balance (also called ataxia), memory, and mood disorders among older adults. (cdc.gov)
  • Friedreich's ataxia has gait abnormality as the most commonly presented symptom. (wikipedia.org)
  • citation needed] Dysfunction of the spinocerebellum (vermis and associated areas near the midline) presents itself with a wide-based "drunken sailor" gait (called truncal ataxia), characterised by uncertain starts and stops, lateral deviations, and unequal steps. (wikipedia.org)
  • As a result of this gait impairment, falling is a concern in patients with ataxia. (wikipedia.org)
  • Cardinal features include progressive limb and gait ataxia, dysarthria, loss of joint position and vibration senses, absent tendon reflexes in the legs, and extensor plantar responses. (medscape.com)
  • Further, alcoholic men and women both showed signs of ataxia of gait and balance, related to affected pontocerebellar systems in the men but not the women, suggesting the need to consider other neural substrates for ataxia in women. (sri.com)
  • Spinocerebellar ataxia is a long-term debilitating condition involving progressive slowing of gait, often associated with poor coordination of speech, hands and eye movement. (blogspot.com)
  • Our generous donors help us fund promising Ataxia research and offer support services to people with Ataxia. (ataxia.org)
  • However, many Young Investigators have submitted promising Ataxia research projects that may go unfunded. (blogspot.com)
  • Santhera Pharmaceuticals is not giving up on its lead Friedreich's Ataxia therapy, Catena® (idebenone), even though the drug failed to meet its primary endpoint in a U.S. Phase III trial (the IONIA study), which involved patients aged between eight and 17 years. (genengnews.com)
  • While Santhera admitted it was "tremendously disappointed" by the IONIA data, CEO Klaus Schollmeier, Ph.D., says, "The results have not dampened our confidence in the drug's potential against Friedreich's Ataxia. (genengnews.com)
  • The six-month IONIA trial missed both its primary endpoint, as measured by the International Co-operative Ataxia Rating Scale, and its secondary neurological endpoint, the Friedreich's Ataxia Rating scale. (genengnews.com)
  • I still strongly support the disease-modifying effect of Catena in Friedreich's Ataxia," commented lead IONIA study investigator Professor Sue Perlman, clinical professor of neurology at the University of California, Los Angeles. (genengnews.com)
  • The first FA researcher I met was Dr. Andr Barbeau (Montreal Clinical Research Institute), who led the Quebec Cooperative Study of Friedreich's Ataxia, initiated in 1974. (curefa.org)
  • GlobalData's clinical trial report, Spinocerebellar Ataxias Global Clinical Trials Review, H1, 2015" provides data on the Spinocerebellar Ataxias clinical trial scenario. (sbwire.com)
  • This report provides elemental information and data relating to the clinical trials on Spinocerebellar Ataxias. (sbwire.com)
  • The databook offers a preliminary coverage of disease clinical trials by their phase, trial status, prominence of the sponsors and also provides briefing pertaining to the number of trials for the key drugs for treating Spinocerebellar Ataxias. (sbwire.com)
  • Dysfunction of the cerebrocerebellum' (lateral hemispheres) presents as disturbances in carrying out voluntary, planned movements by the extremities (called appendicular ataxia). (wikipedia.org)
  • Ataxia (from Greek α [used as a negative prefix] + τάξις [order], meaning lack of order ) is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. (en-academic.com)
  • The word ataxia usually describes symptoms. (brighamandwomens.org)
  • How severe the disability is depends on the type of ataxia, the age when the symptoms start, and other factors. (brighamandwomens.org)
  • What are the symptoms of ataxia? (brighamandwomens.org)
  • Symptoms and when they start may vary, depending on the type of ataxia. (brighamandwomens.org)
  • The symptoms of ataxia may look like other conditions or medical problems. (brighamandwomens.org)
  • Treating other causes of ataxia can also help reduce symptoms. (brighamandwomens.org)
  • Depending on the type of spinocerebellar ataxia, people may develop different signs and symptoms, such as speech and swallowing difficulties, muscle stiffness, weakness in the muscles that control eye movement and cognitive (mental) impairment. (blogspot.com)
  • However, cognitive dysfunction, increased tendon reflex, and ancestry were able to predict 54 percent of the variation in ataxia severity. (news-medical.net)
  • The major pathophysiologic finding in Friedreich ataxia is a "dying back phenomena" of axons, beginning in the periphery with ultimate loss of neurons and a secondary gliosis. (medscape.com)
  • Friedreich ataxia is a relatively common disorder. (medscape.com)
  • Friedreich ataxia is a progressive disorder with significant morbidity. (medscape.com)
  • I work voluntarily with FARA as the Chief Research Officer and also with the Australian Friedreich Ataxia Stem Cell and Gene Therapy Consortium, Melbourne. (curefa.org)
  • Ataxia-telangiectasia (A-T) is a rare, inherited disease. (medlineplus.gov)
  • In children with ataxia-telangiectasia, incoordination usually develops when they begin to walk, and muscles progressively weaken, causing them to be greatly disabled. (msdmanuals.com)
  • Ataxia Telangiectasia by the Florida Medical Association. (lu.se)
  • Questions and Answers: Ataxia Telangiectasia by National Institutes of Health. (lu.se)
  • ATbase - a registry of patients with ataxia-telangiectasia by Karolinska Insitutet, Stockholm, Sweden. (lu.se)
  • Ataxia Telangiectasia at the National Organization for Rare Disorders, Inc.(NORD). (lu.se)
  • Ataxia Telangiectasia in the Patient and Family handbook of the Immune Deficiency Foundation (IDF). (lu.se)
  • Ataxia telangiectasia by the Atlas of Genetics and Cytogenetics in Oncology and Haematology. (lu.se)
  • Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. (nih.gov)
  • Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism spectrum disorder (ASD), as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar function. (lu.se)
  • Incoordination (ataxia) usually develops when children begin to walk, but it may be delayed until age 4. (msdmanuals.com)
  • EPN alone caused mild ataxia that eventually progressed to severe ataxia. (cdc.gov)
  • EPN plus MBK caused severe ataxia that progressed to complete paralysis. (cdc.gov)
  • Ataxia is a neurological/movement disorder affecting the nervous system of over 200,000 people worldwide. (softwareone.com)
  • Are you or a loved one struggling with Ataxia, a neurological disorder that disrupts muscle coordination and balance? (viezec.com)
  • Its mission is to make a meaningful and positive impact in the rare diseases narrative by raising awareness of Ataxia globally. (softwareone.com)
  • Today there are more than 100 different known ataxia diseases, and the number is constantly growing", says Andreas Puschmann, researcher and associate professor of neurology at Lund University and consultant at Skåne University Hospital. (lu.se)
  • Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! (ataxia.org)
  • This leads to progressive problems with movement, coordination and balance (ataxia). (blogspot.com)
  • The new website has given our organization a tremendous lift to dedicate ourselves to the mission of creating global awareness about the rare and little-known disease of Ataxia. (softwareone.com)
  • Hope for Ataxia is a federally incorporated non-profit organization based in Ontario, Canada. (softwareone.com)
  • The organization hosts virtual support groups, conducts aware-ness and fundraising campaigns, while sharing information through social media, webinars and blogs to strengthen the Ataxia community. (softwareone.com)
  • With only a few staff working hard to create support communities and awareness for suffering from Ataxia, the organization welcomed outside assistance. (softwareone.com)
  • On 12 January 2017, orphan designation was granted by the European Commission to Luis Pereira de Almeida, Portugal, for trans-resveratrol for the treatment of spinocerebellar ataxia. (blogspot.com)
  • At the time of designation, spinocerebellar ataxia affected approximately 0.2 in 10,000 people in the European Union (EU). (blogspot.com)
  • General unsteadiness (ataxia) and lack of coordination are common. (arizona.edu)
  • If the ataxia is caused by your immune system attacking the brain, you may have treatments to suppress your immune system. (brighamandwomens.org)
  • Of course, NAF's goal is that these bright scientists continue to study Ataxia, helping to find the treatments we all so desperately need. (blogspot.com)
  • Spinocerebellar ataxia type 4 was one of these, but now a research team in Lund, Sweden, have identified the gene that is responsible. (lu.se)
  • Dystaxia is a mild degree of ataxia. (wikipedia.org)
  • MBK alone caused mild ataxia throughout the study. (cdc.gov)
  • Today marks International Ataxia Awareness Day (IAAD), which is celebrated every year on September 25th. (ataxia.org)
  • Hope for Ataxia must carefully conserve funds while maximizing its non-profit activities to promote awareness of Ataxia effectively. (softwareone.com)
  • As a non-profit, Hope for Ataxia must carefully conserve funds while maximizing its capacity to effectively promote awareness and serve the Ataxia community. (softwareone.com)
  • The blog also reports on activities that raise awareness of ataxia. (blogspot.com)
  • A person may experience ataxia as difficulty in walking, poor balance, difficulty in distance perception, tendency to fall, difficulty in sports performance and/or slurring of speech. (ctacupuncture.com)
  • We found that the severity of ataxia did not correlate with age of onset. (news-medical.net)
  • There are more than 35 autosomal dominant types frequently termed spinocerebellar ataxia and typically having adult onset. (nih.gov)
  • Whether women are more vulnerable to brain dysmorphology than men despite lower alcohol consumption levels or shorter dependency ("telescoping effect") remains controversial and has not been considered with respect to infratentorial structures or their potential contribution to ataxia. (sri.com)
  • Spinocerebellar ataxia is a group of genetic conditions of the nervous system whereby cells in certain areas of the brain get damaged and die. (blogspot.com)
  • Ataxia may be short-term (temporary), such as being under the influence of alcohol, medicine, or drugs. (brighamandwomens.org)
  • People with ataxia lose muscle control in their arms and legs. (brighamandwomens.org)
  • This blog aims to keep people informed about new developments in the field of research into ataxia. (blogspot.com)
  • The Annual Ataxia Research Drive began on October 15 with the challenge to raise $400,000 by December 15 to fund the finest Ataxia research. (blogspot.com)
  • There were 84 research applications submitted to the National Ataxia Foundation (NAF) for consideration. (blogspot.com)
  • These grants were created to encourage young clinical and scientific investigators to pursue a career in the field of Ataxia research. (blogspot.com)
  • These important grants are an investment for the future of Ataxia research. (blogspot.com)
  • The posterior column degeneration accounts for the loss of position and vibration senses and the sensory ataxia. (medscape.com)
  • This study investigates the clinical and neurophysiologic outcomes of the use of subcutaneous cortex stimulation (in keeping with the established protocol of peripheral nerve stimulation applied in chronic intractable pain ) in degenerative ataxia . (bvsalud.org)
  • Degenerative cerebellar ataxias have no pharmacological or rehabilitation evidence-based treatment so far. (bvsalud.org)
  • De jaarlijkse fondsenwervingscampagne van de National Ataxia Foundation in Amerika is begonnen op 15 oktober en loopt tot 15 december dit jaar. (blogspot.com)
  • Er zijn 84 onderzoeksaanvragen ingediend voor financiering bij de National Ataxia Foundation (NAF). (blogspot.com)
  • These cause nerve cell damage and lead to ataxia. (brighamandwomens.org)
  • Implantable Subcutaneous Peripheral Nerve Stimulation Improves Degenerative Ataxia. (bvsalud.org)