Ataxia: 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.Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)Friedreich Ataxia: 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)Spinocerebellar Ataxias: 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)Gait Ataxia: 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.Ataxia Telangiectasia: 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).Ataxia Telangiectasia Mutated Proteins: 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.Iron-Binding Proteins: Proteins that specifically bind to IRON.Machado-Joseph Disease: 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)Trinucleotide Repeat Expansion: 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.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Cerebellum: The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.Tumor Suppressor Proteins: 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.Cell Cycle Proteins: 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.Purkinje Cells: The output neurons of the cerebellar cortex.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Ocular Motility Disorders: 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 ProteinsFragile X Syndrome: 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)Apraxias: 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)Age of Onset: 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.Dysarthria: 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)DNA-Binding Proteins: 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.Fragile X Mental Retardation Protein: 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, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Syndrome: A characteristic symptom complex.DNA Damage: 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.Myoclonic Cerebellar Dyssynergia: 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)Nystagmus, Pathologic: 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)DNA Repeat Expansion: An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.Kv1.1 Potassium Channel: A delayed rectifier subtype of shaker potassium channels that is commonly mutated in human episodic ATAXIA and MYOKYMIA.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.Nuclear Proteins: 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.Intranuclear Inclusion Bodies: Circumscribed masses of foreign or metabolically inactive materials, within the CELL NUCLEUS. Some are VIRAL INCLUSION BODIES.Olivopontocerebellar Atrophies: A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Heredodegenerative Disorders, Nervous System: Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.Mutation, Missense: 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)Multiple System Atrophy: A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Gliadin: 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.Vitamin E Deficiency: 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)Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Calcium Channels, Q-Type: CALCIUM CHANNELS located in the neurons of the brain.Homozygote: An individual in which both alleles at a given locus are identical.Myoclonus: 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, P-Type: CALCIUM CHANNELS located within the PURKINJE CELLS of the cerebellum. They are involved in stimulation-secretion coupling of neurons.Neurodegenerative Diseases: 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.Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.DNA Repair: 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.Nervous System Diseases: 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.Checkpoint Kinase 2: 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.Radiation, Ionizing: 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.Nerve Degeneration: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.Fasciculation: 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)Miller Fisher Syndrome: 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)Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Myoclonic Epilepsies, Progressive: A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Reflex, Abnormal: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.Spastic Paraplegia, Hereditary: 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)Consanguinity: The magnitude of INBREEDING in humans.Cerebellar Nuclei: 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.Epilepsies, Myoclonic: 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.).Intellectual Disability: 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)Ophthalmoplegia: 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.Optic Atrophy: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.Hypoalbuminemia: 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).Phosphotransferases (Alcohol Group Acceptor): A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Shaw Potassium Channels: A shaker subfamily that is prominently expressed in NEURONS and are necessary for high-frequency, repetitive firing of ACTION POTENTIALS.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Molecular Sequence Data: 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.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Proprioception: Sensory functions that transduce stimuli received by proprioceptive receptors in joints, tendons, muscles, and the INNER EAR into neural impulses to be transmitted to the CENTRAL NERVOUS SYSTEM. Proprioception provides sense of stationary positions and movements of one's body parts, and is important in maintaining KINESTHESIA and POSTURAL BALANCE.Pyramidal Tracts: Fibers that arise from cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord. Many authorities say the pyramidal tracts include both the corticospinal and corticobulbar tracts.Visual Pathways: Set of cell bodies and nerve fibers conducting impulses from the eyes to the cerebral cortex. It includes the RETINA; OPTIC NERVE; optic tract; and geniculocalcarine tract.Movement: The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.Motor Cortex: Area of the FRONTAL LOBE concerned with primary motor control located in the dorsal PRECENTRAL GYRUS immediately anterior to the central sulcus. It is comprised of three areas: the primary motor cortex located on the anterior paracentral lobule on the medial surface of the brain; the premotor cortex located anterior to the primary motor cortex; and the supplementary motor area located on the midline surface of the hemisphere anterior to the primary motor cortex.Spinocerebellar Degenerations: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.Political Systems: The units based on political theory and chosen by countries under which their governmental power is organized and administered to their citizens.Music: Sound that expresses emotion through rhythm, melody, and harmony.Clinical Medicine: The study and practice of medicine by direct examination of the patient.Physician-Patient Relations: The interactions between physician and patient.Physicians: Individuals licensed to practice medicine.ArchivesEmpathy: An individual's objective and insightful awareness of the feelings and behavior of another person. It should be distinguished from sympathy, which is usually nonobjective and noncritical. It includes caring, which is the demonstration of an awareness of and a concern for the good of others. (From Bioethics Thesaurus, 1992)Cerebral Palsy: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)Drug Discovery: The process of finding chemicals for potential therapeutic use.Walking: An activity in which the body advances at a slow to moderate pace by moving the feet in a coordinated fashion. This includes recreational walking, walking for fitness, and competitive race-walking.Cerebral Arteries: The arterial blood vessels supplying the CEREBRUM.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Dictionaries, MedicalTelangiectasis: Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.Metabolic Syndrome X: A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)

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

... episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. The movement disorders associated with ataxia can be ... Gluten ataxia is the single most common cause of sporadic idiopathic ataxia. It accounts for 40% of ataxias of unknown origin ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... The term sensory ataxia is employed to indicate ataxia due to loss of proprioception, the loss of sensitivity to the positions ...

*Sensory ataxia

... is both a symptom and a sign in neurology. It is a form of ataxia (loss of coordination) caused not by ... Sensory ataxia is distinguished from cerebellar ataxia by the presence of near-normal coordination when the movement is ... Sensory ataxia also lacks the associated features of cerebellar ataxia such as pendular tendon reflexes, scanning dysarthria, ... Patients with sensory ataxia often demonstrate pseudoathetosis and Romberg's sign. They usually complain of loss of balance in ...

*Ataxia cayennensis

... 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.. ...

*Ataxia operaria

... is a species of beetle in the family Cerambycidae. It was described by Erichson in 1848, originally under the ... BioLib.cz - Ataxia operaria. Retrieved on 8 September 2014.. ...

*Ataxia mucronata

... 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.. ...

*Ataxia spinipennis

... is a species of beetle in the family Cerambycidae. It was described by Chevrolat in 1862. It is known from ... BioLib.cz - Ataxia spinipennis. Retrieved on 8 September 2014.. ...

*Ataxia spinicauda

... 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.. ...

*Ataxia acutipennis

... 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.. ...

*Ataxia obscura

... 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.. ...

*Ataxia setulosa

... is a species of beetle in the family Cerambycidae. It was described by Fall in 1907. It is known from Baja ... BioLib.cz - Ataxia setulosa. Retrieved on 8 September 2014.. ...

*Ataxia crypta

... is a species of beetle in the family Cerambycidae. It was described by Say in 1831, originally under the genus ... BioLib.cz - Ataxia crypta. Retrieved on 8 September 2014.. ...

*Ataxia arizonica

... 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.. ...

*Ataxia brunnea

... 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.. ...

*Ataxia luteifrons

... 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.. ...

*Ataxia hovorei

... is a species of beetle in the family Cerambycidae. It was described by Lingafelter and Nearns in 2007. It is ... BioLib.cz - Ataxia hovorei. Retrieved on 8 September 2014.. ...

*Ataxia perplexa

... is a species of beetle in the family Cerambycidae. It was described by Charles Joseph Gahan in 1892. It is ... BioLib.cz - Ataxia perplexa. Retrieved on 8 September 2014.. ...

*Ataxia alpha

... is a species of beetle in the family Cerambycidae. It was described by Chemsak and Noguera in 1993. It is known ... BioLib.cz - Ataxia alpha. Retrieved on 8 September 2014.. ...

*Ataxia crassa

... is a species of beetle in the family Cerambycidae. It was described by Vitali in 2007. It is known from Jamaica. ... BioLib.cz - Ataxia crassa. Retrieved on 8 September 2014.. ...

*Ataxia stehliki

... is a species of beetle in the family Cerambycidae. It was described by Chemsak in 1966. It is known from Cuba. ... BioLib.cz - Ataxia stehliki. Retrieved on 8 September 2014.. ...

*Ataxia cayensis

... is a species of beetle in the family Cerambycidae. It was described by Chemsak and Feller in 1988. It is known ... BioLib.cz - Ataxia cayensis. Retrieved on 8 September 2014.. ...

*Cerebellar ataxia

Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". ... Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical ... Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. Damage to the cerebellum, ... Play media There are many causes of cerebellar ataxia including, among others, gluten ataxia, autoimmunity to Purkinje cells or ...

*Ataxia-telangiectasia

These include: Ataxia oculomotor apraxia type 1 (AOA1) Ataxia oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia ... Friedreich ataxia (FA) is the most common genetic cause of ataxia in children. Like A-T, FA is a recessive disease, appearing ... Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... Most children with ataxia caused by CP do not begin to walk at a normal age, whereas most children with A-T start to walk at a ...

*Agnidra ataxia

... is a moth in the Drepanidae family. It was described by Chu and Wang in 1988. It is found in China (Yunnan). The ...

*Piezocera ataxia

... is a species of beetle in the family Cerambycidae. It was described by Martins in 1976. Bezark, Larry G. A ...

*Ataxia (album)

All songs on Ataxia were written and performed by Robert Pollard, Todd Tobias, and Tim Tobias. "The music jumps from dark ... Ataxia is the sixth studio album released by 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." -- ... "The overall tone of Ataxia is almost Gothic in its dark mystique. Songs seem to bubble up amidst a cauldron of haunting, ...
Premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general population, with estimated prevalences of 1 per 259 females and 1 per 813 males. Several articles have recently described the presence of late-onset neurological symptoms in male carriers of premutation (FMR1) alleles. The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor. Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction.To study the penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) among premutation carriers.Family-based study of 192 individuals (premutation carriers and controls) whose families belong to the Northern or Southern California Fragile X Associations. Data were collected (March 2002-April 2003) through a survey and a ...
TY - JOUR. T1 - Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. AU - Brouwer, J. R.. AU - Severijnen, E.. AU - de Jong, F. H.. AU - Hessl, David R. AU - Hagerman, Randi J. AU - Oostra, B. A.. AU - Willemsen, R.. PY - 2008/7. Y1 - 2008/7. N2 - The human FMR1 gene contains an unstable CGG-repeat in its 5′ untranslated region. The repeat length in the normal population is polymorphic (5-54 CGG-repeats). Individuals carrying lengths beyond 200 CGGs (i.e. the full mutation) show hypermethylation and as a consequence gene silencing of the FMR1 gene. The absence of the gene product FMRP causes the fragile X syndrome, the most common inherited form of mental retardation. Elderly carriers of the premutation (PM), which is defined as a repeat length between 55 and 200 CGGs, can develop a progressive neurodegenerative syndrome: fragile X-associated tremor/ataxia syndrome (FXTAS). The high FMR1 mRNA levels ...
Sigma-Aldrich offers abstracts and full-text articles by [Kirin Basuta, Andrea Schneider, Louise Gane, Jonathan Polussa, Bryan Woodruff, Dalyir Pretto, Randi Hagerman, Flora Tassone].
Cerebral Ataxia, also known as Cerebellar Ataxia or Cerebellar Ataxia Syndrome, is similar to Ataxic Cerebral Palsy in some ways but different in others. They are both marked by the same symptoms such as an unsteady walk, poor muscle tone, and lack of coordination.. Unlike Ataxic CP, Cerebral Ataxia doesnt necessarily occur in birth. It can also be classified as acute, where the disorder appears suddenly and in high severity, or chronic, wherein the disorder progresses over a stretched out period of time. Cerebral Ataxia can even be recurrent and happen on and off over short or long periods of time. There are even cases where it develops at a late age but the patient can still live for years afterwards.. Also like Ataxic Cerebral Palsy, Cerebral Ataxia has many different causes. They can include infectious diseases, genetic conditions, tumors, trauma, and vascular conditions. Because many of these conditions can happen at any point in someones life, it is possible to develop Cerebral Ataxia at ...
American Journal of Medical Genetics Part B (Neuropsychiatric Genetics) 144B:566 -569 (2007) Brief Research Communication CGG Repeat Length Correlates With Age of Onset of Motor Signs of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Flora Tassone,1* John Adams,2 Elizabeth M. Berry-Kravis,3 Susannah S. Cohen,2 Alfredo Brusco,4 Maureen A. Leehey,5 Lexin Li,6 Randi J. Hagerman,2,7 and Paul J. Hagerman1 1 Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California M.I.N.D. Institute, University of California, Medical Center, Sacramento, California 3 Departments of Pediatrics, Neurology, and Biochemistry, RUSH University Medical Center, Chicago, Illinois 4 Department of Genetics Biology and Biochemistry, University of Turin, Turin, Italy 5 Department of Neurology, University of Colorado at Denver Health Sciences Center, Denver, Colorado 6 Department of Statistics, North Carolina State University, Raleigh, North Carolina 7 Department of ...
Background Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop fragile X-associated primary ovarian insufficiency. Marked elevation in FMR1 mRNA transcript levels has been observed with premutation alleles, and RNA toxicity due to increased mRNA levels is the leading molecular mechanism proposed for these disorders. However, although the FMR1 gene undergoes alternative splicing, it is unknown whether all or only some of the isoforms are overexpressed in premutation carriers and which isoforms may contribute to the premutation pathology.. ...
Ataxic Cerebral Palsy (Ataxia) Ataxia is the least common form of cerebral palsy. Ataxia means without order or incoordination. Ataxic movements are characterised by clumsiness, imprecision, or instability. Movements are not...
Researchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS) — the formation of “R-loops,” which they believe may be associated with the disorder’s neurological symptoms, such as tremors, lack of balance, features of parkinsonism, and cognitive decline.
The same research team who discovered an age-related neurological disorder will now receive nearly $21.8 million from the National Institutes of Health (NIH) to develop new treatments for it. The funding establishes the NeuroTherapeutics Research Institute at the University of California, Davis, which is dedicated to finding effective interventions that reduce or eliminate the debilitating balance problems, tremors and dementia associated with older adults who have FXTAS, or fragile X-associated tremor/ataxia syndrome. The five-year grant is the largest funding award in history to focus on this or any other fragile X-related disorder.. Led by molecular geneticist Paul Hagerman, the institute is one of nine interdisciplinary research consortia announced recently by the NIH Roadmap for Medical Research. The roadmaps goal is to integrate different disciplines to address health challenges that have been resistant to traditional research approaches. Funding the consortia represents a fundamental ...
Allen EG, He W, Yadav-Shah M and Sherman SL (2004). A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum. Genet. 114: 439-447. http://dx.doi.org/10.1007/s00439-004-1086-x PMid:14758538 Bakker CE, Kooy RF, DHooge R and Tamanini F (2000). Introduction of a FMR1 transgene in the fragile X knockout mouse. Neurosc. Res. Communic. 26: 265-277. http://dx.doi.org/10.1002/1520-6769(200005/06)26:3,265::AID-NRC13,3.0.CO;2-T Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, et al. (2007). Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp. Cell Res. 313: 244-253. http://dx.doi.org/10.1016/j.yexcr.2006.10.002 PMid:17150213 PMCid:1852528 Brouwer JR, Huizer K, Severijnen LA, Hukema RK, et al. (2008). CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J. Neurochem. 107: 1671-1682. ...
...The interplay of two proteins that bind to messenger RNA a molecule t...They are two different diseases but they are related to one gene sai...The ways in which the two disorders occur differ. In both the gene FM...People with fragile X-associated tremors/ataxia syndrome suffer from t...,Researchers,identify,proteins,involved,in,new,neurodegenerative,syndrome,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
Fragile X-associated tremor/ataxia syndrome can be difficult to diagnose and should have guidelines for diagnostic testing, according to a study in the July 26 issue of Neurology. A second study found chemotherapy aggravated symptoms in one womans case.
... is the least common type of cerebral palsy comprising only 5-10% of cases. If your child is suffering, please contact our Baltimore birth injury attorneys for a free case evaluation.
This study aims to determine whether 4-aminopyridine (4AP) can reduce attacks of ataxia in patients with episodic ataxia type 2 (EA2), a rare but often debilitating condition. Episodic ataxia (EA) is a group of inherited disorders characterized by recurrent, discrete episodes of vertigo and ataxia variably associated with progressive ataxia. EA2, the most common and the best characterized of all the EA syndromes, is caused by heterozygous mutations in CACNA1A, which encodes the main subunit of a neuronal voltage-gated calcium channel, Cav2.1.. Although observational data suggest symptomatic resolution with acetazolamide in many EA2 patients, the investigators found in our patient databases that at least a third of the EA2 patients continue to suffer debilitating ataxia attacks, either because of incomplete control while on acetazolamide or because of intolerability or hypersensitivity to acetazolamide. For these patients there is no alternative intervention. 4-Aminopyridine (4AP) has been found ...
The posterior parietal cortex (PPC) is thought to play an important role in the sensorimotor transformations associated with reaching movements. In humans, damage to the PPC, particularly bilateral lesions, leads to impairments of visually guided reaching movements (optic ataxia). Recent accounts of optic ataxia based upon electrophysiological recordings in monkeys have proposed that this disorder arises because of a breakdown in the tuning fields of parietal neurons responsible for integrating spatially congruent retinal, eye, and hand position signals to produce coordinated eye and hand movements . We present neurological evidence that forces a reconceptualization of this view. We report a detailed case study of a patient with a limb-dependent form of optic ataxia who can accurately reach with either hand to objects that he can foveate (thereby demonstrating coordinated eye-hand movements) but who cannot effectively decouple reach direction from gaze direction for movements executed using his right
Background: Upper limb ataxia is one of the most common motor disorders associated with cerebellar damage and it might lead to motor impairment and disability. Objective: In this study, a subject with disabling upper limb ataxia and intention tremor
Robert F. Berman, Ph.D., Professor in the Department of Neurological Surgery and a member of the Center for Neuroscience. He is also affiliated with the M.I.N.D. Institute and is a member of the Center for Childrens Environmental Health. He is Director of Research for the Neurotrauma Research Laboratories at UC Davis. Dr. Berman is a member of the Executive Committee of the Neuroscience Graduate Program, and is also a member of the Pharmacology/Toxicology Graduate Program. Dr. Bermans laboratory studies neurodevelopmental and neurodegenerative disease, with a focus on cellular mechanisms of brain injury associated with these disorders. A major research program is focused on the study of Fragile X-associated Tremor/Ataxia (FXTAS). FXTAS is a late developing neurodegenerative disease due to an expanded CGG trinucleotide repeat in the 5-untranslated region of the FMR1 gene. This leads to the development of tremors, ataxia, neuropsychological problems including depression, and dementia in some ...
Define enzootic equine incoordination. enzootic equine incoordination synonyms, enzootic equine incoordination pronunciation, enzootic equine incoordination translation, English dictionary definition of enzootic equine incoordination. adj. Occurring at a steady or predictable rate in animals of a specific geographic area; endemic. Used of a disease. n. An enzootic disease. adj affecting...
Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. About 50% of individuals with EA2 have migraine headaches. Onset is typically in childhood or early adolescence (age range 2-32 years). Frequency of attacks can range from once or twice a year to three or four times a week. Attacks can be triggered by stress, exertion, caffeine, alcohol, fever, heat, and phenytoin; they can be stopped or decreased in frequency and severity by administration of acetazolamide or 4-aminopyridine. Between attacks, individuals may initially be asymptomatic but commonly develop interictal findings that can include nystagmus, pursuit and saccade alterations, and ataxia.
Kids with ataxic CP have trouble with balance. They may walk with their legs farther apart than other kids. And they can have trouble knowing exactly where something is.
Episodic ataxia type 1(EA1) What is EA1? EA1 is a disease that is mainly characterized by muscle stiffness and twitching. EA1 also creates incoordination and
Ataxia Armor is a craftable Hardmode armor set, crafted from Cores of Chaos, Hellstone Bars, and Chaotic Bars. It requires 6 Cores of Chaos, 17 Hellstone Bars, and 32 Chaotic Bars to make the whole set or 10 Cores of Chaos, 33 Hellstone Bars, and 60 Chaotic Bars for a set with all five headpieces. A full set consists of an Ataxia Armor and an Ataxia Subligar as well as five different headpieces: The Ataxia Mask, Ataxia Helmet, Ataxia Helm, Ataxia Headgear and Ataxia Hood. All of the helmets share the set bonus, but also each piece providing boosts to the specific class. All helmets also provide temporary immunity to lava and immunity to fire damage. The Ataxia Armor gives 21 defense, +20 max life, 5% increased damage and critical strike chance. The Ataxia Subligar gives 15 defense, 7% increased critical strike chance and 15% increased movement speed. ...
Attacks of ataxia, or the loss of ability to coordinate muscular movement, are often triggered by stress or exertion. EA is likely caused by an inherited genetic mutation; many individuals with EA have abnormalities in the KCNA1 or CACNA1A genes. To date, two known subtypes of EA have been identified, and other types likely exist. Specific characteristics of each EA subtype, however, have not been adequately described. The purpose of this study is to better define the clinical features and genetic basis of the various subtypes of EA and to evaluate disease progression. The study will also establish relevant study endpoints for use in future therapeutic trials.. This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend an outpatient study visit that will last 7 hours. This initial evaluation will include a medical history, a physical examination, neurological testing, and an ataxia ...
Ataxia What is ataxia? The word ataxia comes from the Greek word a taxis, which means without order or without coordination. Thus, ataxia means without coordination. Persons who are diagnosed with ataxia experience a failure of muscle control in their arms and legs which may result in a lack of balance, coordination, and possibly a disturbance in gait. Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements. The word ataxia is often used to describe the incoordinatio...
Looking for choreic ataxia? Find out information about choreic ataxia. lack of coordination of the voluntary muscles resulting in irregular movements of the body. Ataxia can be brought on by an injury, infection, or... Explanation of choreic ataxia
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Community support is vital to the work that NAF does. Our generous donors help us fund promising Ataxia research and offer support services to people with Ataxia. Your gift today will help us continue to deliver on our mission to improve the lives of persons affected by Ataxia. ...
Community support is vital to the work that NAF does. Our generous donors help us fund promising Ataxia research and offer support services to people with Ataxia. Your gift today will help us continue to deliver on our mission to improve the lives of persons affected by Ataxia. ...
Vital Tones Ataxia 1.3 download - Vital Tones Ataxia is a powerful brainwave treatment for reducing Ataxia. Ataxia is a neurological sign consisting of…
Ataxia is the predominant manifestation of many acquired and inherited neurologic disorders affecting the cerebellum, its connections, and the afferent proprioceptive pathways. This course covers the phenomenology and etiologies of cerebellar and afferent ataxias and provides indications for a rational approach to diagnosis and management. Particular attention will be given to inherited ataxias and new developments in genetic testing. Through case presentations, faculty will discuss the diagnostic process and test result interpretation ...
Broadly speaking, the word ataxia simply means unsteadiness and clumsiness, and has been given to the condition because those are usually the earliest symptoms. As the disorder progresses, people with ataxia usually lose the ability to walk, and can become totally disabled, having to depend on others for their care. This is because ataxia destroys both nerve and muscle cells. Vision (and in some cases hearing) and speech may also be affected.
Ataxia is a neurological disease that causes lack of muscle coordination and affects speech, eye movements, the ability to swallow, walking, picking up objects,, and other voluntary movements. Call +91-124-4141414 to know more about ataxia and its treatment.
... means without coordination. People with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and trouble walking. Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements.
Episodic ataxia usually first develops during the teenage years. The episodes can last from several minutes to hours and are usually the result of certain triggers, such as sudden movement, stress, exercise, caffeine or alcohol.. The symptoms of episodic ataxia may disappear as a person gets older, although sometimes the condition gets gradually worse over time. Medication can often help control attacks, and life expectancy is usually normal.. ...
Late-onset hereditary dominant episodic ataxia in French Canadians Dr David Pellerin 1, Dr. Mathilde Renaud 2, Mrs. Karine Choquet 1, Prof. Martine Tétreault 3, Mrs. Sylvie Provost 3, Mrs. Marie-Josée Dicaire 1, Dr Roberta La Piana 1, Dr Rami Massie 1, Dr Colin Chalk 1, Dr. Anne-Louise Lafontaine 1, Prof. Marie-Pierre... ...
At least 1 out of 100 horses can be affected by Ataxia, a neurological disorder caused by Wobbler Syndrome. It causes an inability to control gait among horses. Once diagnosed with Ataxia, the animal should be put down immediately, if not, the animal...
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We are delighted that on 20 February 2019 the Ataxia UK Medical Guidelines were published in the Orphanet Journal of Rare Diseases.
Background Ataxia is a clinically and genetically heterogeneous condition. Acquired causes include congenital malformations, trauma, metabolic/toxic, infectious, para-infectious, or neoplastic. In the inherited syndromes, mode of inheritance may be autosomal dominant or recessive. Spontaneous mutations have also been identified in sporadic cases. Although gene tests are available for several syndromes, the responsible genes for many ataxia syndromes remain unknown. ...
Omar - Ataxia - Case Studies History In June 2014, Omar, a 35-year-old male, was admitted to Beijing Puhua International Hospital due to decreased vision for the previous 8 years and unsteady gait with slurred speech for the previous 3 years. He was diagn
Ataxia refers to disorders marked by difficulties in smoothly performing co-ordinated voluntary movements, which may affect any body part, often affecting gait. In ...
Elizabeth Philippas has co-ordination problems. Her movements are unsure and sometimes uncontrolled because she has Ataxia. It is a hereditary and
... : Read more about types of the disorder with information on common and rare types, diagnosis, testing, misdiagnosis.
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Learn more about Friedreichs Ataxia at TriStar Centennial Parthenon Pavilion DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
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Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or ,200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy ...
Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene give rise to the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency and neurodevelopmental problems. Morphometric analysis of Map2B immunofluorescence reveals that neurons cultured from heterozygous female mice with preCGG repeats in defined medium display shorter dendritic lengths and fewer branches between 7 and 21 days in vitro compared with wild-type (WT) littermates. Although the numbers of synapsin and phalloidin puncta do not differ from WT, preCGG neurons possess larger puncta. PreCGG neurons display lower viability, and express elevated stress protein as they mature. PreCGG neurons have inherently different patterns of growth, dendritic complexity and synaptic architecture discernable early in the neuronal trajectory to maturation, and may reflect a cellular basis for the developmental component of the spectrum ...
1) Sydenham chorea and 2) Topic of the month: Historical interviews. This podcast for the Neurology Journal begins and closes with Dr. Robert Gross, Editor-in-Chief, briefly discussing highlighted articles from the print issue of Neurology. In the second segment Dr. Jeff Waugh interviews Dr. Fabienne Brilot-Turville about her paper on antibody binding to neuronal surface in Sydenham chorea. In the next segment, Dr. Stacey Clardy is reading our e-Pearl of the week about fragile X-associated tremor ataxia syndrome. In the next part of the podcast Dr. Farrah Mateen completes our historical interviews for the month by interviewing Dr. Read More 1) Sydenham chorea and 2) Topic of the month: Historical interviews. This podcast for the Neurology Journal begins and closes with Dr. Robert Gross, Editor-in-Chief, briefly discussing highlighted articles from the print issue of Neurology. In the second segment Dr. Jeff Waugh interviews Dr. Fabienne Brilot-Turville about her paper on antibody binding to ...
Cerebral palsy (CP) affects muscle movement and control. People with cerebral palsy have it for life.. Ataxic CP is one type of cerebral palsy. Kids with ataxic cerebral palsy have trouble with balance. They may walk with their legs farther apart than other kids. And they can have trouble knowing exactly where something is. They might think it is closer or farther than it actually is.. Other types of cerebral palsy can lead to muscle stiffness (spastic CP) or writhing movements (dyskinetic CP). Some kids have more than one kind of CP. And sometimes, the type of cerebral palsy a child has can change over time. ...
List of 487 causes for Gait ataxia and Reflex symptoms and Sensory ataxia gait, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
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The cerebellum and its major connection are subject to a number of diseases. One of the most relevant consequences of cerebellar dysfunction is ataxia, a neurological dysfunction of motor coordination, which may affect fundamental activities such as gaze, speech, gait, and balance1. The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom2. The International Cooperative Ataxia Rating Scale (ICARS) is a scale developed to assess cerebellar ataxia3. ICARS was found to be a reliable scale satisfying accepted criteria for interrater reliability, test_retest reliability, and internal consistency. Although validity testing was limited, It was found evidence of validity of ICARS when ataxia disease stages and Barthel index were used as external criteria4,5.. In order to measure the severity of cerebellar ataxia in an easier and more practical way, Schmitz-Hubsch et al proposed a new scale: the Scale for ...
Author Summary Hereditary ataxias are a heterogeneous group of rare disorders characterized by progressive cerebellar neurodegeneration. Several causative mutations have been identified in various forms of human ataxias. In addition to humans, inherited ataxias have been described in several other species, including the domestic dog. In this study, we have studied the clinical and genetic properties of cerebellar ataxia in the Finnish Hound dog breed. The breed suffers from a progressive ataxia that has an early onset before the age of 3 months. Affected puppies have difficulties in coordinating their movements and balance, and have to be euthanized due to rapidly worsening symptoms. Our pedigree analysis suggested an autosomal recessive mode of inheritance, which was confirmed by identifying a homozygous mutation in the SEL1L gene through genome-wide association and linkage analyses. The SEL1L protein functions in a protein quality control pathway that targets misfolded proteins to degradation in the
Course and Outcome of Acute Cerebellar Ataxia Anne M. Connolly, MD," W. Edwin Dodson, MD," Arthur L. Prensky, MD," and Robert S. Rust, MD?$ We report a study of 73 consecutive children with acute cerebellar ataxia, representing all of the children evaluated at St. Louis Childrens Hospital during a 23-year-period to whom this diagnosis could appropriately be assigned. Twenty-six percent had chickenpox, 52% had other illnesses that were presumed to be viral, and in 3% the ataxia was related to immunization. Nineteen percent had no definite prodrome. Sixty children were followed for 4 months or longer after onset of their ataxia (mean, 7.4 f 6.0 years). Ninety-one percent (55160)of these, including all children with chickenpox, recovered completely from ataxia. Eighty-nine percent (39/44)of the children with non-varicellarelated ataxia recovered completely from the ataxia, a much better rate of recovery than what was found in prior large studies. One fifth of the children followed for more than 4 ...
This disease is caused by a mutation in the SEL1L gene. Affected dogs will show first indications of cerebellar neurodegeneration at the age of 4-12 weeks. First clinical signs are loss of balance, minor incoordination of gait and intention tremor while later symptoms can be a progressive incoordination or a complete loss of mobility. .
We report on the case of a 10-year-old Iraqi Kurdish boy who developed recurrent short-lived attacks of severe instability of stance and gait, vertigo, nausea, and vomiting. Examination revealed peri-oral myokymia. Histories of fever, head trauma, seizures, migraine, or illicit drug abuse were not obtained. Needle electromyography revealed myokymic discharges. KCNA1 missense G1210A genetic mutation was found. The boy s parents and grandparents did not harbour this mutation. The patient had sporadic episodic ataxia type 1 and acetazolamide was prescribed.. Key words: Episodic ataxia, KCNA1, myokymia, potassium channelopathy, missense mutation ...
The main objective of this work is to demonstrate the feasibility of using bone marrow-derived stem cells in treating a neurodegenerative disorder such as Friedreichs ataxia. In this disease, the dorsal root ganglia of the spinal cord are the first to degenerate.. Read More: Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice. ...
No diffusion tensor imaging (DTI) study has yet investigated ataxia in diffuse axonal injury (DAI). In the current study, we used DTI to investigate cerebellar peduncle lesions of patients who showed severe ataxia following DAI. Six patients with sev
Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. {ECO:0000269,PubMed:22986007, ECO:0000269,PubMed:26770814}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
The word "ataxia" comes from two roots: a meaning "lack" and taxia meaning "order." So literally, the staggering we see is a "lack of order," or incoordination, within the nervous system. The abnormal movement can occur in the legs, the head, the torso, or all three.. There are several different forms of ataxia, depending on where in the nervous system the abnormality occurs. The first is a failure of the unconscious awareness of where the body - specifically the limbs - are located in space. This unconscious body awareness is called "proprioception," and when there is a proprioceptive abnormality, movement is difficult and quite abnormal. A proprioceptive defect most commonly occurs in the wake of pressure on the spinal cord from a bulging intervertebral disk or tumor, from a tumor within the spinal cord itself, from a bleeding blood vessel within the spinal cord, or a failure of the nerve conduction capacity of the spinal cord.. ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
... - La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad genética con Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant. Spinocerebellar
Ataxia means without coordination. People with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and trouble walking. Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements.
There are about 150,000 people in the United States who are diagnosed with ataxia, and to help spread the word about the disease and find a cure, an annual International Ataxia Awareness Day was created by the National Ataxia Foundation in conjunction with several other organizations. The 13th year of awareness will be recognized on Sept. 25.. ...
Ataxia Research Grant from National Ataxia Foundation, listed on PostgraduateFunding.com - Masters & PhD Grants, Bursaries & Awards Worldwide.
If your young child is affected by acute cerebellar ataxia, there are options to treat the condition and reduce acute cerebellar ataxia symptoms.
Metabolic & Genetic Information Center Inborn erros of metabolism SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES) SESAME SYNDROME EAST SYNDROME
The item is aimed at finding evidence of a unilateral cerebellar lesion. Test with eyes open. In case of visual defect, ensure testing is done in intact visual field. The finger-nose-finger and heel-shin tests are performed on both sides, and ataxia is scored only if present out of proportion to weakness. Ataxia is absent in the patient who cannot understand or is paralyzed. Only in the case of amputation or joint fusion, the examiner should record the score as untestable (UN), and clearly write the explanation for this choice. In case of blindness, test by having the patient touch nose from extended arm position ...
Nebraska Ataxias nonprofit mission is to help those affected by ataxia through direct assistance, community and professional education and awareness, support for caregivers, and funding for medical therapies, equipment and research. Our organizations programs and partnerships focus on improving the quality of life for ataxians in our service area of Nebraska and Iowa ...
Certain forms of ataxia are recessive conditons. This means a person must have two copies of a mutated gene for disease to occur. A person with only one mutated gene might not experience symptoms at all.
Sanjad-Sakati syndrome (SSS) or hypoparathyroidismretardation- dysmorphism (HRD) or Middle East syndrome is a rare autosomal recessive genetic manifes..
It refers to an unsteadiness of gait or lack of muscle coordination. Cerebellar refers to the part of the brain called the cerebellum. The cerebellum is located inside the back and base of the skull, just above the top of the spinal cord. It processes input from other areas of the brain, the spinal cord, and sensory receptors. It is responsible for coordination and balance.. ...
TY - JOUR. T1 - Molecular genetic analyses of myelin deficiency and cerebellar ataxia. AU - Mikoshiba, K.. AU - Okano, Hideyuki. AU - Miyawaki, A.. AU - Furuichi, T.. AU - Ikenaka, K.. PY - 1995. Y1 - 1995. UR - http://www.scopus.com/inward/record.url?scp=0029133394&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029133394&partnerID=8YFLogxK. M3 - Article. C2 - 7568881. AN - SCOPUS:0029133394. VL - 105. SP - 23. EP - 41. JO - Progress in Brain Research. JF - Progress in Brain Research. SN - 0079-6123. ER - ...
Cerebellar Ataxia is a disabling and frustrating condition where people have the ability to move yet reduced control of the necessary balance and coordination.
Learn more about Acute Cerebellar Ataxia at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Acute Cerebellar Ataxia at TriStar Southern Hills DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
A neurological symptom characterized by major difficulties in muscular coordination. Ataxia is usually a sign of another condition that has yet to be unearthed (such as a damaged cerebellum). It can affect the way your eyes move, the way you speak and even your ability to swallow. The condition could be caused by any
Read community conversations. Get support and information from people sharing their experiences with ataxia, betahistine and more.
Read community conversations. Get support and information from people sharing their experiences with ataxia, betahistine and more.
Learn more about Friedreichs Ataxia at Medical City Dallas DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ....
XLR8R sits down with the Detroit-New York duos Ted Krisko to talk about the combos history, its evolution, and the Motor Citys role in the pairs musical ethos.
It is important to accept the fact that just as patients are different from each other in terms of age, general condition, and diagnoses, that the final effects of any therapy will also vary from patient to patient. Furthermore, since this treatment is biological, it is also important to understand that while some effects may be noticed very soon, that many of the effects of treatment may only be seen gradually, and over a period of months.﻽ ...
Read about recent events, essential information and the latest community news. raf_newsletter_fall_2019.pdf. raf_newsletter_february_2019.pdf. raf_newsletter_october_2018.pdf. There are no news items for this selection. ...
30.10.2017: Klinisk oversikt - Fragilt X-assosiert tremor-ataksi-syndrom (FXTAS) er en arvelig nevrodegenerativ sykdom som skyldes en mutasjon på X-kromosomet.
The National Institutes of Health (NIH) has awarded a five-year grant of more than $9 million to Emory researchers to study fragile X syndrome-associated disorders and work toward developing effective treatments.. The grant is one of three nationally to support the Centers for Collaborative Research in Fragile X, and a renewal of Emorys National Fragile X Syndrome Research Center that has been continuously funded by NIH since the inception of such centers ten years ago.. Fragile X syndrome is the most common form of inherited intellectual and developmental disabilities and often results in emotional and behavioral problems; as many as 30 to 50 percent of people with fragile X syndrome also have features of autism spectrum disorders.. Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI) result from a variety of mutations in the FMR1 gene.. FMR1 normally makes a protein that helps create and maintain connections ...
A case of progressive spinocerebellar syndrome due to isolated vitamin E deficiency is reported. Measurement of the vitamin E concentration in serum should be included when investigating all children with unexplained, progressive ataxia, even in the absence of malabsorption. Replacement treatment in patients with a vitamin E deficiency can arrest or improve the associated neurological disorder.. ...
The main risk factor for FXS is having a parent with an FMR1 mutation. Most people who inherit a minor mutation, which is sometimes called a premutation, do not develop the symptoms and signs of FXS. A few premutated children may show signs that resemble autism. Others, primarily males, may develop a set of neurological symptoms called fragile X tremor ataxia syndrome in later adult life. Females may develop FMR1-related premature ovarian insufficiency.. Children of mothers with FMR1 premutations are at risk of inheriting a fully mutated FMR1 gene severe enough to cause symptomatic FXS. If a woman does not have symptoms and is a carrier of an FMR1 mutation or premutation, each child of hers has a 50% chance of inheriting that gene. Of the children that inherit that gene, boys are much more likely to develop symptoms than girls. The severity of the disorder may vary between different individuals in the same family.. In general, each generation tends to have worse mutations and a higher risk of ...
The data presented here support the hypothesis that highly erratic activity of Purkinje cells during caffeine-induced attacks is the cause of motor abnormalities in tottering mice. This is in agreement with earlier studies that have shown that Purkinje cells are sufficient, and required, for the initiation of attacks in this mouse model (Campbell et al., 1999; Mark et al., 2011; Raike et al., 2013a), and extend them by revealing a tight correlation between the extent to which the activity of Purkinje cells is erratic with the severity of the motor abnormalities. Because a significant amount of sensory information converges on the cerebellum, one might consider the alternative hypothesis that the erratic activity of Purkinje cells in the tottering mice during the attacks simply reflects the abnormal sensory input caused by the signs. Three sets of observations make this unlikely and support the working hypothesis that the erratic activity of Purkinje cells causes the abnormal motor signs. The ...
Cerebral palsy can be grouped into three main types which describe the disorders or movement and posture that may be experienced by a person. These are called spasticity, athetosis and ataxia.. Spasticity occurs when muscles are high in tone (tension) but weak in strength. A person experiencing spasticity may have difficulty moving their limbs and adopting stable posture.. Athetosis refers to uncontrolled movements, which are often most noticeable when a person with this type of cerebral palsy commences movement. In addition, children with athetoid cerebral palsy often have very weak muscles or feel floppy when they are carried.. Ataxia is characterised by unsteady, shaky movements or tremor. People with ataxic cerebral palsy and related disabilities have difficulty using muscles to achieve balance and coordinated movement. This is the least common type of cerebral palsy and related disabilities.. It is important to note that the movement difficulties each person has will be unique. Often a ...
ataxia consist of gait impairment, unclear ("scanning") speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. These result from the involvement of the cerebellum and its afferent and efferent pathways, including the spinocerebellar pathways, and the frontopontocerebellar pathway originating in the rostral frontal lobe. True cerebellar ataxia must be distinguished from ataxia associated with vestibular nerve or labyrinthine disease, as the latter results in a disorder of gait associated with a significant degree of dizziness, light-headedness, or the perception of movement (Chap. 21). True cerebellar ataxia is devoid of these vertiginous complaints and is clearly an unsteady gait due to imbalance. Sensory disturbances can also on occasion simulate the imbalance of cerebellar disease; with sensory ataxia, imbalance dramatically worsens when visual input is removed (Romberg sign). Rarely, weakness of proximal leg muscles mimics cerebellar disease. In the patient ...
Cerebral Palsy is a term used to describe a group of chronic conditions affecting body movements and muscle coordination. It is caused by damage to the brain, usually occurring during fetal development, or during infancy. It can also occur before, during or shortly following birth. Cerebral Palsy is neither progressive (it doesnt get worse with time), nor communicable (you cant catch it). It is one of the most common disabling conditions of childhood. There are 4 types of Cerebral Palsy: Spastic Cerebral Palsy characterized by stiff and difficult movement; Athetoid Cerebral Palsy characterized by involuntary and uncontrolled movement; Ataxic Cerebral Palsy characterized by a disturbed sense of balance and depth perception; and Mixed Cerebral Palsy.
A The word "ataxia" is used to describe a symptom-lack of coordination-which can be associated with injuries or degenerative changes in the central nervous system. Examples of such injuries and changes include stroke, multiple sclerosis, head injury, or alcoholism. This is known as acquired ataxia.. Ataxia also indicates a group of specific degenerative and progressive diseases of the nervous system called the hereditary and sporadic ataxias. These diseases damage parts of the nervous system that control movement. Often the first apparent symptom of these disorders is difficulty with balance and walking. Symptoms of hereditary ataxias commonly begin in childhood, but one type-Friedreichs ataxia-has an adult onset in some cases. People with Friedreichs ataxia develop weakness in the muscles of the feet, lower legs, and hands. They often rely on a wheelchair within 15 years of the appearance of symptoms. As the disease progresses, patients may experience slow, slurred speech; rapid, involuntary ...
Looking for online definition of spinal ataxia in the Medical Dictionary? spinal ataxia explanation free. What is spinal ataxia? Meaning of spinal ataxia medical term. What does spinal ataxia mean?
FMR1 premutation carriers have a unique clinical profile that reflects an increased risk toward mental health disorders, a study found.
Friedreich ataxia (FA) is the most common inherited progressive ataxia. It carries an autosomal recessive inheritance 1. Epidemiology Thought to have an estimated prevalence of ~1:50,000. There is no recognised gender predilection. Typically p...
We describe here a case of progressive childhood-onset cerebellar ataxia with vertical supra nuclear gaze palsy with no family history and a normal magnetic resonance imaging (MRI) of brain. The clinical exome sequencing in this patient showed a homozygous mutation in SQSTM1. This case highlights the importance of next-generation sequencing in the diagnosis of inherited ataxia syndromes. SQSTM1 mu...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
Episodic ataxia can occur sporadically or in a number of hereditary disorders, like for instance in pyruvate carboxylase deficiency (PC gene) and pyruvate dehydrogenase deficiency (PDHA1 gene). In addition, mutations in the OTC gene, which may be evident as partial deficiency in females and complete deficiency in males, can cause episodic extreme irritability, episodic vomiting and lethargy, protein avoidance, ataxia, stage II coma, delayed growth, developmental delay, and seizures. Hyperammonemias caused by deficiencies of urea cycle enzymes (CPS1, ASS1, ASL, ARG1 gene mutations) are characterized by intermittent ataxia, dysarthria, vomiting, headache, ptosis, involuntary movements, seizures, and confusion. Aminoacidurias may also be a significant part of the differential diagnosis of episodic ataxias: Hartnup disease (SLC6A19 gene mutations), maple syrup urine disease (MSUD, caused by BCKDHA, BCKDH, DBT, or DLD gene mutation), and isovaleric acidemia (IVD gene mutation). Finally, the following ...
TY - JOUR. T1 - The fragile X premutation presenting as essential tremor. AU - Leehey, Maureen A.. AU - Munhoz, Renato P.. AU - Lang, Anthony E.. AU - Brunberg, James A. AU - Grigsby, Jim. AU - Greco, Claudia. AU - Jacquemont, Sebastian. AU - Tassone, Flora. AU - Lozano, A. M.. AU - Hagerman, Paul J. AU - Hagerman, Randi J. PY - 2003/1/1. Y1 - 2003/1/1. N2 - Context: The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits. Objective: To describe 2 fragile X carriers whose clinical presentation mimicked essential tremor. Design: The 2 patients described herein underwent neurologic examinations by experienced movement disorders neurologists, magnetic resonance imaging, and fragile X gene, ...
From UniProt:. Gillespie syndrome (GLSP): A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation. [MIM:206700]. Spinocerebellar ataxia 29 (SCA29): An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. [MIM:117360]. Spinocerebellar ataxia 15 (SCA15): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia ...
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 95434 Definition A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria , sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. Visit the Orphanet disease page for more resources ...
To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7. The SCA7 mutation in South Africa (SA) has been found almost exclusively in families of indigenous Black African ethnic origin. To present the results of the first clinical description of seven Zambian families presenting with autosomal dominant SCA, as well as the downstream molecular genetic analysis of a subset of these families. The study was undertaken at the University Teaching Hospital in Lusaka, Zambia. Ataxia was quantified with the Brief Ataxia Rating Scale derived from the
TY - JOUR. T1 - Paraneoplastic cerebellar ataxia associated with anti-hu antibodies and benign ganglioneuroma. AU - Fancellu, Roberto. AU - Corsini, Elena. AU - Bernardi, Gaetano. AU - Buzzo, Paolo. AU - Ferrari, Maria Luisa. AU - Lamantea, Eleonora. AU - Garaventa, Alberto. AU - Truini, Mauro. AU - Salvarani, Sandro. PY - 2014/10/1. Y1 - 2014/10/1. N2 - We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluores- cence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diag- nosis was maturing ganglioneuroma. ...
TY - JOUR. T1 - Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. AU - Silveira, I.. AU - Lopes-Cendes, AU - Kish, S.. AU - Maciel, P.. AU - Gaspar, C.. AU - Coutinho, P.. AU - Botez, M. I.. AU - Teive, H.. AU - Arruda, W.. AU - Steiner, C. E.. AU - Pinto-Junior, W.. AU - Maciel, J. A.. AU - Jain, S.. AU - Sack, G.. AU - Andermann, E.. AU - Sudarsky, L.. AU - Rosenberg, R.. AU - MacLeod, P.. AU - Chitayat, D.. AU - Babul, R.. AU - Sequeiros, J.. AU - Rouleau, G. A.. PY - 1996/1. Y1 - 1996/1. N2 - The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders varying in both clinical manifestations and mode of inheritance. Six different genes causing autosomal dominant SCA are mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause ...

Health Article - Olivopontocerebellar Atrophy - AARPHealth Article - Olivopontocerebellar Atrophy - AARP

Ataxia appears as difficulties in controlling deliberate muscle movement. People who have ataxia may believe they are simply ... One common symptom is ataxia. Ataxia is a difficulty in controlling your muscle movements for gait. Diagnosing OPA can be ... The most well-known symptom is ataxia. ...
more infohttp://healthtools.aarp.org/health/olivopontocerebellar-atrophy

Olivopontocerebellar atrophy. Causes, symptoms, treatment Olivopontocerebellar atrophyOlivopontocerebellar atrophy. Causes, symptoms, treatment Olivopontocerebellar atrophy

The main symptom is clumsiness (ataxia) that slowly gets worse. There may also be problems with balance, slurring of speech, ...
more infohttp://drugline.org/ail/pathography/276/

Acute cerebellar ataxia: MedlinePlus Medical EncyclopediaAcute cerebellar ataxia: MedlinePlus Medical Encyclopedia

Acute cerebellar ataxia is sudden, uncoordinated muscle movement due to disease or injury to the cerebellum. This is the area ... Cerebellar ataxia; Ataxia - acute cerebellar; Cerebellitis; Post-varicella acute cerebellar ataxia; PVACA ... Ataxia may affect movement of the middle part of the body from the neck to the hip area (the trunk) or the arms and legs (limbs ... Acute cerebellar ataxia is sudden, uncoordinated muscle movement due to disease or injury to the cerebellum. This is the area ...
more infohttps://medlineplus.gov/ency/article/001397.htm

Rombergs test - wikidocRomberg's test - wikidoc

A positive Romberg test suggests that ataxia is sensory in nature, i.e. depending on loss of proprioception. A negative Romberg ... Patients with cerebellar ataxia will, generally, be unable to balance even with the eyes open;[2] therefore, the test cannot ... Rombergs test is positive in conditions causing sensory ataxia such as: *Conditions affecting the dorsal columns of the spinal ... test suggests that ataxia is cerebellar in nature, i.e. depending on localised cerebellar dysfunction instead. ...
more infohttp://www.wikidoc.org/index.php/Romberg%27s_test

Ataxia | Encyclopedia.comAtaxia | Encyclopedia.com

Ataxia Definition Ataxia, a medical term originated from the Greek language [1] meaning without order, refers to disturbances ... Friedreich ataxia is the most common form of hereditary ataxia, affecting 1 out of 50,000 individuals. Friedreich ataxia is a ... Genetic forms of ataxia must be distinguished from the acquired (non-genetic) ataxias. Diagnosis of inherited ataxias begins ... autosomal dominant ataxias and autosomal recessive ataxias. Hereditary ataxias are additionally classified into types according ...
more infohttps://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/ataxia

Ataxia TypesAtaxia Types

Ataxia is the defect in normal movements like walking, speaking, eating swallowing etc. It is caused most commonly by damage to ... Hereditary ataxias. Friedreichs ataxia - this is the commonest type of hereditary ataxia and makes up for almost half of the ... Episodic ataxia - this is another rare type of hereditary ataxia. There are bouts or episodes of ataxia interspersed with ... Three main types of ataxia. There are over 50 to 100 types of ataxia. Ataxias are classified under three broad headings:-. * ...
more infohttps://www.news-medical.net/health/Ataxia-Types.aspx

Ataxia TreatmentAtaxia Treatment

There are no medications that can specifically treat and cure the symptoms of ataxias. However, medications may ease the ... symptoms by treating the underlying condition that causes the ataxia. ... The recommended treatment for acquired ataxia depends of the cause of the ataxia. Ataxias caused due to infections for example ... I am Ataxia Patient. Doctors Called it is yours family disease. In My Family 3 Person suffer in Ataxia. Please Tell me any ...
more infohttps://www.news-medical.net/health/Ataxia-Treatment.aspx

AtaxiaAtaxia

Many people with ataxia have a genetic cause, with a mutation in one of the ~400 genes have been reported to cause ataxia. ... Ataxia Ataxia refers to a relatively rare group of diseases that cause impaired motor coordination, most often by affecting the ... Ataxia Diagnosis. The diagnosis of ataxia begins with a thorough history and examination. The rate of progression and specific ... Ataxia Treatment. Treatment for ataxia can be categorized as disease-modifying (those that make the brain healthier, ie lessen ...
more infohttps://www.emoryhealthcare.org/neurology/ataxia.html

Dust Lyrics - AtaxiaDust Lyrics - Ataxia

Lyrics to Dust by Ataxia: Some of the chances we take, / To make the money we make. / Manufacturing disease / The creature we ...
more infohttp://www.lyricsfreak.com/a/ataxia/dust_20190791.html

Friedreichs Ataxia | FA | MedlinePlusFriedreich's Ataxia | FA | MedlinePlus

Friedreichs ataxia (FA) is an inherited disease that damages your nervous system. Symptoms usually begin between ages 5 and 15 ... Friedreichs Ataxia (National Institute of Neurological Disorders and Stroke) - Short Summary * Friedreichs Ataxia (National ... ClinicalTrials.gov: Ataxia (National Institutes of Health) * ClinicalTrials.gov: Friedreich Ataxia (National Institutes of ... Ataxias and Cerebellar or Spinocerebellar Degeneration (National Institute of Neurological Disorders and Stroke) Also in ...
more infohttps://medlineplus.gov/friedreichsataxia.html

Pediatric AtaxiaPediatric Ataxia

... is degenerative disease of the nervous system that impacts muscle coordination. Learn more about how to manage ... Hereditary ataxias (including Ataxia-telangiectasia, episodic ataxia, Friedreichs ataxia, spinocerebellar ataxias and Wilsons ... What are the signs and symptoms of Pediatric Ataxia?. Symptoms of ataxia differ by type:. Cerebellar ataxia. *Behavioral ... What is Pediatric Ataxia?. Ataxia is a general term to describe the loss of key muscle functions like walking, speech, ...
more infohttps://www.childrens.com/specialties-services/specialty-centers-and-programs/neurology/conditions-we-treat/ataxia

ATAXIA (SCA3)ATAXIA (SCA3)

... Manuel Alaminos malaminos at supercable.es Thu Feb 17 17:34:52 EST 2005 *Previous message: Asia-Pacific Biotech ... The motive of this email is to ask for help, I explain, have my wife for 9 years with Ataxia Machado Joseph, for one year, ...
more infohttp://www.bio.net/bionet/mm/neur-sci/2005-February/060215.html

Friedreich ataxia | The BMJFriedreich ataxia | The BMJ

Ataxia UK (www.ataxia.org.uk/). UK charity with the goal of finding a cure for a range of ataxias; it funds research into ... Friedreich ataxia is a multisystem neurodegenerative disorder and the most common of the hereditary ataxia syndromes, with a ... Friedreich Ataxia Research Association (Australasia) (www.fara.org.au/). FARA Australasia and the US Friedreichs Ataxia ... The severity of his ataxia meant that he was forced to use a wheelchair, but his situation changed when the loss of fine motor ...
more infohttps://www.bmj.com/content/347/bmj.f7062.full.print

Cure for Ataxia
 · CausesCure for Ataxia · Causes

Ataxia means absence of order (lack of co-ordination) people with ataxia have problems of co-ordination. This is because ... Find a cure for Ataxia What is Ataxia? ... Find a cure for Ataxia What is Ataxia? Ataxia means absence ... of order (lack of co-ordination) people with ataxia have problems of co-ordination. This is because parts of the nervous system ...
more infohttps://www.causes.com/causes/129874-cure-for-ataxia

ATAXIA : Neurology NowATAXIA : Neurology Now

Symptoms of hereditary ataxias commonly begin in childhood, but one type-Friedreichs ataxia-has an adult onset in some cases. ... There is no specific treatment for ataxia and no cure for the hereditary ataxias, but adaptive devices (such as canes or ... This is known as acquired ataxia.. Ataxia also indicates a group of specific degenerative and progressive diseases of the ... The type of ataxia and the age of symptom onset indicate how severe the disability will become and whether the disease will ...
more infohttp://journals.lww.com/neurologynow/Fulltext/2009/05040/ATAXIA.20.aspx

Get Familiar: AtaxiaGet Familiar: Ataxia

Did Ataxia spring from that realization?. Yeah, it was congruent. Ataxia was actually born while I was still performing in ... Tags: 8 Mile Road, acid, Afternoon Acid, Ataxia, Carl Craig, Connaisseur, Dax Lee, Detroit, Eric Ricker, Get Familar, House, ... Was the Ataxia style set from the beginning?. Not at all-it was totally experimental at first. I had some experience with ... Ataxia is a Greek word for disorder, and its used to label a muscular disease-its involuntary loss of muscle control. It fit ...
more infohttps://xlr8r.com/features/get-familiar-ataxia/

Spinocerebellar ataxia 7Spinocerebellar ataxia 7

SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with ... Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive ...
more infohttps://www.uniprot.org/diseases/DI-01071

The Ataxia Archive - MedHelpThe Ataxia Archive - MedHelp

... The Ataxia Forum Archive contains previous questions and answers that were posted. Please select ... WELCOME to the ATAXIA COMMUNITY: This Patient-To-Patient Community is for discussions relating to Ataxia, which occurs when ... People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and ... For the latest medical information and support, please visit The Ataxia Forum. ...
more infohttp://www.medhelp.org/topics/show_forum/914

Ataxia CentreAtaxia Centre

Idiopathic ataxia (including idiopathic late-onset cerebellar ataxia, ILOCA). *Autosomal dominant cerebellar ataxia (ADCA) and ... Ataxia Centre The Ataxia Centre offers high-quality treatment, care and support to patients with, or suspected of having, any ... The Ataxia Centre has very strong links with Ataxia UK, the principal charity and support organization representing patients ... We are one of only three specialist Ataxia Centres in the UK accredited by Ataxia UK. To achieve accreditation, centres have to ...
more infohttps://www.uclh.nhs.uk/ourservices/servicea-z/neuro/ataxia/Pages/Home.aspx

Ataxia-Telangiectasia | Cancer.NetAtaxia-Telangiectasia | Cancer.Net

Children with A-T may begin staggering and appear unsteady (called ataxia) shortly after learning to walk. Most ... Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty ... National Ataxia Foundation www.ataxia.org. Facing Our Risk of Cancer Empowered (FORCE) Information for women who are at a high ... What is Ataxia-Telangiectasia?. Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic ...
more infohttps://www.cancer.net/cancer-types/ataxia-telangiectasia

Cerebellar Ataxia in DogsCerebellar Ataxia in Dogs

Diagnosing and Treating Cerebellar Ataxia in Dogs. If you think your dog is exhibiting signs of cerebellar ataxia, you should ... Cerebellar Ataxia Explained. While cerebellar ataxia can be caused by tumors or brain infections, its most commonly passed ... Symptoms and Progression of Cerebellar Ataxia in Dogs. Cerebellar ataxia is a progressive canine disease that causes symptoms ... Cerebellar ataxia in dogs is a condition the occurs when the cerebellum, a part of your dogs brain, sustains damage. The ...
more infohttps://www.vetinfo.com/cerebellar-ataxia-in-dogs.html

Cognition in hereditary ataxia | SpringerLinkCognition in hereditary ataxia | SpringerLink

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia ... Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: Relationship to ataxia ... Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain. 2003;126:2761-72.PubMedGoogle Scholar ... Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations. Neurology. 2002;59:590-5.PubMed ...
more infohttps://link.springer.com/article/10.1080%2F14734220601115924

Cerebral Ataxia - Cerebral Palsy - MedHelpCerebral Ataxia - Cerebral Palsy - MedHelp

Cerebrovascular diseases are the most common underlying cause of ataxia in elderly patients. Cerebellar ataxia is a potentially ... Cerebrovascular diseases are the most common underlying cause of ataxia in elderly patients. Cerebellar ataxia is a potentially ... Cerebral Ataxia. Hi My mother age 62 has been suffering from Cerebral ataxi since last several years - She has difficulty in ... Have there been any new drug discoveries or findings recently regarding ataxia? Any progress at all towards any possible ...
more infohttps://www.medhelp.org/posts/Cerebral-Palsy/Cerebral-Ataxia/show/1796352

Ataxia | USF HealthAtaxia | USF Health

USF Ataxia Research Center Theresa A. Zesiewicz, MD FAAN Message from the Director. We are committed to providing specialized ... Ataxia Research Center. Department of Neurology. 13330 USF Laurel Drive, 3rd Floor. Tampa, FL 33612 ... Professor of Neurology Director, USF Ataxia Research Center Director, The Frances J. Zesiewicz Center and Foundation for ... For information about how you can help support ataxia research, please visit the USF Foundation website. ...
more infohttp://health.usf.edu/medicine/neurology/ataxia
  • Accidental ingestion of some drugs may cause ataxia, seizures , sensory neuropathies, or coma and death. (encyclopedia.com)
  • The chronic administration of antihistamine medication and anticonvulsive drugs may cause ataxia in children, and should not be administered without instruction of a healthcare provider. (encyclopedia.com)
  • Many people with ataxia have a genetic cause, with a mutation in one of the ~400 genes have been reported to cause ataxia. (emoryhealthcare.org)
  • The various abnormal genes that cause ataxia do have something in common: they make abnormal proteins that affect nerve cells, primarily in the cerebellum and in the spinal cord. (baycare.org)
  • These diagnostic procedures may also be used to rule out other conditions that can cause ataxia to appear. (baycare.org)
  • Some conditions can cause ataxia to appear gradually, such as hypothyroidism, deficiencies of certain vitamins such as B-12 or vitamin E, exposure to certain drugs, multiple sclerosis, syphilis, and other disorders. (baycare.org)
  • 2) Guidelines for the molecular diagnosis of genetic conditions that cause ataxia have been published [ Gasser et al 2010 ]. (nih.gov)
  • Exogenous substances that cause ataxia mainly do so because they have a depressant effect on central nervous system function. (citizendium.org)
  • People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. (medhelp.org)
  • People who are diagnosed with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and possibly a disturbance in gait. (baycare.org)
  • Sensory ataxia presents with an unsteady "stomping" gait with heavy heel strikes, as well as postural instability that is characteristically worsened when the lack of proprioceptive input cannot be compensated by visual input , such as in poorly lit environments. (citizendium.org)
  • Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality. (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)
  • Friedreich ataxia is the most common inherited ataxia, occurring in 1 out of 50,000 population. (encyclopedia.com)
  • I was 14 years old when I was diagnosed with Friedreich ataxia, a progressive disease causing impairment to the nerves and so a failure of timely muscle reactions throughout my body. (bmj.com)
  • For example in patients with episodic ataxia type 2, symptomatic relief may be obtained by treating with acetazolamide. (news-medical.net)
  • Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. (nih.gov)
  • Episodic ataxia type 2 (EA2) should be suspected in individuals with the following clinical, neuroimaging, EMG, and family history findings. (nih.gov)
  • Many ataxias are due to genetic mutations, so a detailed family history is important and genetic testing is sometimes obtained. (emoryhealthcare.org)
  • a consultant-led general ataxia clinic (PG203/4) for the investigation, monitoring of ataxia and genetic counselling, and a multidisciplinary clinic (PG201) for the assessment and holistic management of patients with ongoing therapy requirements. (uclh.nhs.uk)
  • This link with the Ataxia Centre allows the development of new genetic tests. (uclh.nhs.uk)
  • Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients. (springer.com)
  • HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. (springer.com)
  • Sporadic ataxia is a form that is not linked to a genetic defect. (wisegeek.com)
  • Unfortunately, there are only a few forms of ataxia for which disease-modifying treatments are available. (emoryhealthcare.org)
  • We are therefore able to offer participation in research and up-to-date information on the current state of research in the various forms of ataxia. (uclh.nhs.uk)
  • Ataxia'' means absence of order (lack of co-ordination) people with ataxia have problems of co-ordination. (causes.com)
  • Emory has specialized expertise in ataxia and has one of the busiest ataxia clinics in the country. (emoryhealthcare.org)
  • The main symptom is ataxia, which means trouble coordinating movements. (medlineplus.gov)
  • A The word "ataxia" is used to describe a symptom-lack of coordination-which can be associated with injuries or degenerative changes in the central nervous system. (lww.com)
  • The type of ataxia and the age of symptom onset indicate how severe the disability will become and whether the disease will lead to death. (lww.com)
  • Ataxia is often used to describe the symptom of incoordination that may accompany infections, injuries, other diseases, and/or degenerative changes in the central nervous system. (baycare.org)
  • There is also no medication currently available which treats the specific symptom of ataxia. (baycare.org)
  • Ataxia (from Greek ataxiā, αταξία , meaning "lack of order") is a neurological sign and symptom consisting of gross incoordination of muscle movements. (citizendium.org)
  • Ataxia-telangiectasia - this is a rare type of hereditary ataxia and is seen in 1 in 100,000 babies. (news-medical.net)
  • What is Ataxia-Telangiectasia? (cancer.net)
  • Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. (cancer.net)
  • The gene associated with A-T is ATM , meaning ataxia telangiectasia mutated. (cancer.net)
  • Judgment of duration in individuals with ataxia-telangiectasia. (springer.com)
  • There are many causes of ataxia, including a number of autoimmune diseases, vitamin deficiencies, and idiopathic forms. (emoryhealthcare.org)
  • Symptomatic treatment for the motor incoordination of ataxia is sometimes attempted, but medication rarely provides substantial benefit. (emoryhealthcare.org)
  • Ingestion of seafood contaminated with high levels of methyl-mercury also causes ataxia, as does accidental ingestion of solvents. (encyclopedia.com)
  • What causes ataxia? (baycare.org)
  • The term vestibular ataxia is employed to indicate ataxia due to dysfunction of the vestibular system , which in acute and unilateral cases is associated with prominent vertigo , nausea and vomiting . (citizendium.org)
  • Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. (springer.com)
  • Alcoholism, metabolic disorders, and vitamin deficiencies may also lead to ataxia. (encyclopedia.com)
  • Sporadic ataxias may result from a new abnormality of the gene or as a result of an underlying disease, including thyroid disease, chronic hypoglycemia, stroke, and vitamin deficiencies. (lww.com)
  • Ataxia means loss of muscle coordination, especially of the hands and legs. (medlineplus.gov)
  • Chronic and progressive ataxia is generally associated with either brain tumors or with one of the several types of inherited neurodegenerative disorders affecting one or more brain areas involved in movement and coordination control. (encyclopedia.com)
  • Pediatric ataxia is degenerative disease of the nervous system that impacts muscle coordination. (childrens.com)
  • Ataxia is a general term to describe the loss of key muscle functions like walking, speech, coordination or eye movement. (childrens.com)
  • Ataxia means without coordination . (baycare.org)
  • Coordination and ataxia. (uptodate.com)
  • Prof Paola Giunti has established close links with specialist therapy services (physiotherapy, occupational therapy, speech and language therapy, orthotics) and amongst the services we offer is a Multidisciplinary Ataxia Clinic with a consultant neurologist and therapists present. (uclh.nhs.uk)
  • Some drugs used in treating certain types of tumors, such as those in colorectal cancer, are especially neurotoxic and can induce temporary, but usually reversible ataxia. (encyclopedia.com)
  • Q What causes adult-onset ataxia, and how can it be treated? (lww.com)
  • Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations. (springer.com)
  • Ataxia may be a consequence of brain trauma, stroke, or aneurysm. (encyclopedia.com)
  • Treatment for ataxia can be categorized as disease-modifying (those that make the brain healthier, ie lessen the disease) or symptomatic (those that improve symptoms without lessening the disease). (emoryhealthcare.org)
  • Children with A-T may begin staggering and appear unsteady (called ataxia) shortly after learning to walk. (cancer.net)
  • A-T is suspected whenever a child develops signs of ataxia, meaning unsteady walking. (cancer.net)
  • Given the wide variety of subtypes and relative rarity of ataxia, this is a disease that is usually best evaluated at an academic center such as Emory. (emoryhealthcare.org)