AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceHealth Care
AtaxiaCerebellar AtaxiaFriedreich AtaxiaSpinocerebellar AtaxiasGait AtaxiaAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsIron-Binding ProteinsMachado-Joseph DiseaseTrinucleotide Repeat ExpansionTrinucleotide RepeatsCerebellumTumor Suppressor ProteinsCell Cycle ProteinsPurkinje CellsPedigreeProtein-Serine-Threonine KinasesCerebellar DiseasesMutationOcular Motility DisordersNerve Tissue ProteinsFragile X SyndromeApraxiasAge of OnsetDysarthriaDNA-Binding ProteinsFragile X Mental Retardation ProteinGenes, RecessiveSyndromeDNA DamageMyoclonic Cerebellar DyssynergiaNystagmus, PathologicDNA Repeat ExpansionKv1.1 Potassium ChannelMagnetic Resonance ImagingPhenotypeMice, Neurologic MutantsNuclear ProteinsIntranuclear Inclusion BodiesOlivopontocerebellar AtrophiesGenes, DominantHeredodegenerative Disorders, Nervous SystemMutation, MissenseMultiple System AtrophyBrainGliadinVitamin E DeficiencyNeurologic ExaminationCalcium Channels, Q-TypeHomozygoteMyoclonusCalcium Channels, P-TypeNeurodegenerative DiseasesAtrophyDNA RepairNervous System DiseasesCheckpoint Kinase 2Radiation, IonizingNerve DegenerationFasciculationMiller Fisher SyndromeHeterozygoteMyoclonic Epilepsies, ProgressiveGenetic LinkageReflex, AbnormalSpastic Paraplegia, HereditaryConsanguinityCerebellar NucleiEpilepsies, MyoclonicIntellectual DisabilityOphthalmoplegiaOptic AtrophyHypoalbuminemiaPhosphotransferases (Alcohol Group Acceptor)Disease Models, AnimalShaw Potassium ChannelsAllelesMolecular Sequence DataDNA Breaks, Double-StrandedChromosomes, Human, Pair 19
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 Proteins
Fragile 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.

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)

Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome<...
TY - JOUR. T1 - Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome. AU - Ma, Lisa. AU - Hagerman, Paul J.. PY - 2020/4. Y1 - 2020/4. N2 - Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that these particles autofluoresce has complicated the use of immunofluorescence techniques, but also offers new opportunities for purification. We have ascertained the features of the autofluorescence, including its excitation/emission spectrum, similarities and differences compared with lipofuscin autofluorescence, and its presence/absence under various fixation, mounting and UV light exposure conditions. Immunofluorescence at various wavelengths was conducted to determine which conditions are ideal forminimizing autofluorescence confounds. We also present a technique for autofluorescence-based ...
https://ucdavis.pure.elsevier.com/en/publications/autofluorescence-based-analyses-of-intranuclear-inclusions-of-fra
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier PopulationPenetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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 ...
https://scholars.latrobe.edu.au/display/publication555948
Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome | Acta Neuropathologica...Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome | Acta Neuropathologica...
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS. Both sense strand derived CGG repeats and antisense strand derived CCG repeats support non-AUG initiated (RAN) translation of homopolymeric proteins in potentially 6 different reading frames. However, the relative abundance of these proteins in FXTAS brains and their co-localization with each other and NIIs is lacking. Here we describe rater-blinded assessment of immunohistochemical and immunofluorescence staining with newly generated antibodies to different CGG RAN translation products in FXTAS and control brains as well as co-staining with ubiquitin, p62/SQSTM1, and ubiquilin 2. We find that both FMRpolyG and a second CGG repeat derived RAN translation product, FMRpolyA, accumulate in aggregates in FXTAS brains. FMRpolyG is a near-obligate component of both ubiquitin-positive and p62
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-019-0782-7/figures/5
Novel blood biomarkers are associated with white matter lesions in fragile X-associated tremor/ataxia syndromeNovel blood biomarkers are associated with white matter lesions in fragile X-associated tremor/ataxia syndrome
The need for accessible cellular biomarkers of neurodegeneration in carriers of the fragile X mental retardation 1 (FMR1) premutation (PM) alleles.To assess the mitochondrial status and respiration in blood lymphoblasts from PM carriers manifesting the fragile X-associated tremor/ataxia syndrome (FXTAS) and non-FXTAS carriers, and their relationship with the brain white matter lesions.Oxygen consumption rates (OCR) and ATP synthesis using a Seahorse XFe24 Extracellular Flux Analyser, and steady-state parameters of mitochondrial function were assessed in cultured lymphoblasts from 16 PM males (including 11 FXTAS patients) and 9 matched controls. The regional white matter hyperintensity (WMH) scores were obtained from MRI.Mitochondrial respiratory activity was significantly elevated in lymphoblasts from PM carriers compared with controls, with a 2- to 3-fold increase in basal and maximum OCR attributable to complex I activity, and ATP synthesis, accompanied by unaltered mitochondrial mass and ...
https://scholars.latrobe.edu.au/display/publication83307
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications - Fingerprint - UC Davis
Fingerprint Dive into the research topics of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. Together they form a unique fingerprint. ...
https://ucdavis.pure.elsevier.com/en/publications/fragile-x-associated-tremorataxia-syndrome-fxtas-pathophysiology-/fingerprints/
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. | Sigma-AldrichHigh functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. | Sigma-Aldrich
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].
https://www.sigmaaldrich.com/catalog/papers/25920745
What is Cerebellar Ataxia | Ataxic Cerebral Palsy Help | 1-877-624-8371What is Cerebellar Ataxia | Ataxic Cerebral Palsy Help | 1-877-624-8371
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 ...
http://ataxiccerebralpalsyhelp.com/what-is-cerebellar-ataxia
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremorataxia syndrome (FXTAS).CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremorataxia syndrome (FXTAS).
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 ...
https://www.docme.ru/doc/1914668/cgg-repeat-length-correlates-with-age-of-onset-of-motor-s..
Differential increases of specific FMR1 mRNA isoforms in premutation carriers | Journal of Medical GeneticsDifferential increases of specific FMR1 mRNA isoforms in premutation carriers | Journal of Medical Genetics
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.. ...
http://jmg.bmj.com/content/52/1/42
FMR1 Premutation Carriers Show Brain Connectivity ReductionsFMR1 Premutation Carriers Show Brain Connectivity Reductions
A new paper reveals a possible early indicator of Fragile X-associated tremor/ataxia syndrome, or FXTAS. The disease afflicts some older people who carry a premutation of the gene known as FMR1, which can lead to impairments in movement and cognition -- while other people who carry the premutation are unaffected.|br /|
https://www.technologynetworks.com/tn/news/fmr1-premutation-carriers-show-brain-connectivity-reductions-338212
FMR1 Premutation Carriers Show Brain Connectivity ReductionsFMR1 Premutation Carriers Show Brain Connectivity Reductions
A new paper reveals a possible early indicator of Fragile X-associated tremor/ataxia syndrome, or FXTAS. The disease afflicts some older people who carry a premutation of the gene known as FMR1, which can lead to impairments in movement and cognition -- while other people who carry the premutation are unaffected.|br /|
https://www.technologynetworks.com/biopharma/news/fmr1-premutation-carriers-show-brain-connectivity-reductions-338212
Ataxic Cerebral Palsy (Ataxia) | Cerebral Palsy Research - USAAtaxic Cerebral Palsy (Ataxia) | Cerebral Palsy Research - USA
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...
http://cparf.org/what-is-cerebral-palsy/types-of-cerebral-palsy/ataxic-cerebral-palsy-ataxia/
Progressive neurodegenerative disorder linked to R-loop formation, UC Davis researchers find
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.
http://www.ucdmc.ucdavis.edu/publish/news/dean/8796
UC Davis Health System Feature Story: UC Davis receives more than $21 million...
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 ...
http://www.ucdmc.ucdavis.edu/welcome/features/20071003_fxtas_ntri/index.html
Publications | GMR | Genetics and Molecular Research | The Original by FUNPEC-RPPublications | GMR | Genetics and Molecular Research | The Original by FUNPEC-RP
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. ...
https://geneticsmr.com/publications?f%5Bauthor%5D=9442
An Association of Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) with Three Common Neurological Problems: A ReviewAn Association of Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) with Three Common Neurological Problems: A Review
Aim: To study the association of Fragile X associated tremor/ataxia syndrome (FXTAS) with Alzheimers disease and Lewy Body Dementia.Method: A systematic search was performed in various data bases and journals of Neurology. In total over 600 articles were reviewed and out of those, 39 were selected based on selection criteria.Results: FXTAS is associated with Alzheimers disease and Lewy Body dementia because so many symptomatic and pathophysiological similarities are found between FXTAS and these two neurodegenerative diseases.Conclusion: The association of FXTAS with neurodegenerative illnesses like Alzheimers disease and Lewy Body dementia is present because of many similarities between them. However, some dissimilarities do exist and some questions remain in addressing the pathophysiology of this association. Therefore we recommend more research in the near future to understand this association to develop and utilize wide-reaching therapies.
https://www.ommegaonline.org/article-details/An-Association-of-Fragile-X-Associated-TremorAtaxia-Syndrome-FXTAS-with-Three-Common-Neurological-Problems-A-Review/795
Researchers identify proteins involved in new neurodegenerativ... ( The interplay of two proteins that b...)Researchers identify proteins involved in new neurodegenerativ... ( The interplay of two proteins that b...)
...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
http://bio-medicine.org/biology-news-1/Researchers-identify-proteins-involved-in-new-neurodegenerative-syndrome-57-1/
Fragile X-Related Disorder Difficult to DiagnoseFragile X-Related Disorder Difficult to Diagnose
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.
http://www.newswise.com/articles/view/513235/
Ataxic Cerebral PalsyAtaxic Cerebral Palsy
Ataxic Cerebral Palsy 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.
https://www.410thefirm.com/practice-areas/medical-malpractice/birth-injury/cerebral-palsy/cerebral-palsy-types/ataxic-cerebral-palsy/
4-Aminopyridine in Episodic Ataxia Type 2 - Full Text View - ClinicalTrials.gov4-Aminopyridine in Episodic Ataxia Type 2 - Full Text View - ClinicalTrials.gov
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 ...
https://clinicaltrials.gov/ct2/show/NCT01543750?term=Ataxia&rank=2
Best Sensory Ataxia hospitals in Delhi NCR - Book Appointment Online, Upto 25% Off on OPD Fee | CredihealthBest Sensory Ataxia hospitals in Delhi NCR - Book Appointment Online, Upto 25% Off on OPD Fee | Credihealth
Best sensory ataxia hospital in Delhi NCR. Check doctor list, patient reviews and feedback, consultation charges, address, contact number of top sensory ataxia hospitals in Delhi NCR. Book appointment online and get upto 25% off on OPD fee.
https://www.credihealth.com/hospitals/delhi-ncr/sensory-ataxia
Optic ataxia affects the lower limbs: evidence from a single case study. - Oxford Neuroscience
Optic ataxia represents a spatial impairment of visually guided reaching following bilateral or unilateral damage to the posterior parietal cortex that is independent of purely motor or visual deficits. Research to date has focused on reaching actions performed with the upper limbs but has neglected to explore whether or not optic ataxia affects the lower limbs, that is, whether it is effector-specific. We asked patient M.H., who suffers from unilateral optic ataxia from left hemispheric damage, and eight age-matched controls, to perform leg movements by stepping down from a wooden block towards a visually presented target. Steps were performed using the left or the right leg, in conditions of central fixation or free viewing. Patient M.H. performed significantly worse than controls. His errors in step accuracy were most pronounced when stepping into the visual periphery (during central fixation), particularly while using the contralesional right foot towards the contralesional right hemispace. This
https://www.neuroscience.ox.ac.uk/publications/351171
Where the eye looks, the hand follows; limb-dependent magnetic misreaching in optic ataxia. - Wellcome Centre for Integrative...
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
https://www.win.ox.ac.uk/publications/368887
Robot-assisted therapy and botulinum toxin for upper limb ataxia: A case report - IOS PressRobot-assisted therapy and botulinum toxin for upper limb ataxia: A case report - IOS Press
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
https://content.iospress.com/articles/technology-and-disability/tad00401
Potential Summer Mentors - CBST Website
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 ...
http://www.cbst.ucdavis.edu/educa/undergraduate/summer-internship-for-undergraduate-students/potential-summer-mentors
Enzootic equine incoordination - definition of enzootic equine incoordination by The Free DictionaryEnzootic equine incoordination - definition of enzootic equine incoordination by The Free Dictionary
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...
http://www.thefreedictionary.com/enzootic+equine+incoordination
Mechanisms Underlying Trigger-Induced Motor Attacks in the Episodic Ataxia Type 2 Mouse Model Tottering
Episodic ataxia type 2 (EA2) is a channelopathy caused by mutations in the CACNA1A gene that encodes for the pore subunit of P/Q type voltage gated Ca+2 channels. Patients carrying these mutations display baseline cerebellar ataxia and episodes of severe ataxia and dystonia. The episodes can last from a few hours to a couple of days, and are triggered by physical or emotional stress, or caffeine or alcohol consumption. The mechanisms by which the stressors induce the episodes are not known. In this thesis, using a well-established mouse model of EA2, tottering, we sought to delineate the mechanisms underlying trigger-induced motor attacks. Because cerebellar Purkinje cells (PCs) are known to be required for the expression of attacks in tottering mice, we focused our studies on the physiology of these cells. In the past decade our lab has extensively studied the conductances regulating intrinsic pacemaking of PCs. Through this comprehensive work it was established that the only conductance that ...
https://repository.yu.edu/handle/20.500.12202/5324
Episodic Ataxia Type 2 - GeneReviews® - NCBI BookshelfEpisodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf
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.
https://www.ncbi.nlm.nih.gov/books/NBK1501/
Ataxic Cerebral Palsy (for Parents) - Ann & Robert H. Lurie Childrens Hospital of Chicago (XML)Ataxic Cerebral Palsy (for Parents) - Ann & Robert H. Lurie Childrens Hospital of Chicago (XML)
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.
https://kidshealth.org/LurieChildrens/en/parents/ataxic-cp.html?WT.ac=p-ra
Action binding and the parietal lobes: Some new perspectives on optic ataxia - Department of Experimental Psychology
To execute goal-directed movements, such as reaching to pick up an object, information specified in extrinsic (spatial) coordinates must be transformed into a motor plan that is expressed within intrinsic (motor) coordinates. For reaching movements directed to visually defined targets, this will involve translating visual information that is initially coded in retinotopic coordinates into a motor plan that specifies the sequence of postural changes required to bring the hand to the target. Several lines of evidence point to the important role played by the posterior parietal cortex (PPC) in carrying out the sensorimotor transformations that are associated with goal-directed action. In humans, damage to the PPC, particularly bilateral lesions, leads to impairments in the planning and control of reaching movements directed towards visual targets, known as optic ataxia. Recent theoretical accounts of this disorder propose that it arises as a result of a failure within successive stages of the sensorimotor
https://www.psy.ox.ac.uk/publications/480797
Optic ataxia and the dorsal visual steam re-visited: Impairment in bimanual haptic matching performed without vision. -...
The two visual systems account proposed by Milner and Goodale (1992) argued that visual perception and the visual control of action depend upon functionally distinct and anatomically separable brain systems: a ventral stream of visual processing that mediates visual perception (object identification and recognition) and a dorsal stream of visual processing mediating visually guided action. Compelling evidence for this proposal was provided by the neuropsychological studies of brain injured patients, in particular the contrasting pattern of impaired and preserved visual processing abilities of the visual object agnostic patient [DF] and optic ataxic patients who it was argued presented with impaired dorsal stream function. Optic ataxia [OA] has thus become a cornerstone of this two visual system account (Pisella et al., 2009). In the current study we re-examine this assumption by investigating how several individuals presenting with OA performed on a bimanual haptic matching task performed without
https://www.psy.ox.ac.uk/publications/836623
Episodic Ataxia | Ataxia CanadaEpisodic Ataxia | Ataxia Canada
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
https://lacaf.org/en/ataxias/formes-and-transmission/episodic-ataxia/
Episodic ataxia results from voltage-dependent potassium channels with altered functions<...Episodic ataxia results from voltage-dependent potassium channels with altered functions<...
TY - JOUR. T1 - Episodic ataxia results from voltage-dependent potassium channels with altered functions. AU - Adelman, John P.. AU - Bond, Chris T.. AU - Pessia, Mauro. AU - Mayliet, James. PY - 1995/12. Y1 - 1995/12. N2 - Episodic ataxia (EA) is an autosomal dominant human disorder that produces persistent myokymia and attacks of generalized ataxia. Recently, familial EA has been linked to the voltage-dependent delayed rectifier, Kv1.1, on chromosome 12. Six EA families have been identified that carry distinct Kv1.1 missense mutations; all individuals are heterozygous. Expression in Xenopus oocytes demonstrates that two of the EA subunits form homomeric channels with altered gating properties. V408A channels have voltage dependence similar to that of wild-type channels, but with faster kinetics and increased C-type inactivation, while the voltage dependence of F1 84C channels is shifted 20 mV positive. The other four EA subunits do not produce functional homomeric channels but reduce the ...
https://ohsu.pure.elsevier.com/en/publications/episodic-ataxia-results-from-voltage-dependent-potassium-channels-2
Ataxia armor - Official Calamity Mod WikiAtaxia armor - Official Calamity Mod Wiki
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. ...
https://calamitymod.gamepedia.com/Ataxia_Armor
Characteristics of Episodic Ataxia Syndrome - Full Text View - ClinicalTrials.govCharacteristics of Episodic Ataxia Syndrome - Full Text View - ClinicalTrials.gov
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 ...
https://clinicaltrials.gov/show/NCT00266760
ataxia - Symptoms, Treatments and Resources for ataxiaataxia - Symptoms, Treatments and Resources for ataxia
ataxia - MedHelps ataxia Center for Information, Symptoms, Resources, Treatments and Tools for ataxia. Find ataxia information, treatments for ataxia and ataxia symptoms.
https://medhelp.org/tags/show/1011/ataxia
The use of different treatment for incoordination of limb movement (ataxia) or tremor in people with multiple sclerosis |...The use of different treatment for incoordination of limb movement (ataxia) or tremor in people with multiple sclerosis |...
MS is a chronic disease of the central nervous system which typically affects both young and middle aged adults. It can result in many different symptoms including ataxia.. In order to help these symptoms, several different treatments, such as physiotherapy, neurosurgery, and oral medications containing cannabis extract, isoniazid or baclofen have been used. The authors conducted a search of the medical literature and found that only 10 out of 59 studies met the criteria of minimum methodological quality necessary for inclusion in this review. These studies represented a total of 172 MS patients with ataxia. This review has found that there is not enough evidence to suggest that any treatment (drugs, physiotherapy or neurosurgery) provides sustained improvement in ataxia or tremor. More research is required.. ...
https://www.cochrane.org/CD005029/MS_the-use-of-different-treatment-for-incoordination-of-limb-movement-ataxia-or-tremor-in-people-with-multiple-sclerosis
Ataxia | Health Information | MedCentral Health System
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...
http://www.medcentral.org/Main/StayWellProducts.aspx?iid=85_P08765
Choreic ataxia | Article about choreic ataxia by The Free DictionaryChoreic ataxia | Article about choreic ataxia by The Free Dictionary
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
http://encyclopedia2.thefreedictionary.com/choreic+ataxia
Ataxia Resource | Learn About, Share and Discuss Ataxia At Popflock.comAtaxia Resource | Learn About, Share and Discuss Ataxia At Popflock.com
Get Ataxia essential facts. View Videos or join the Ataxia discussion. Add Ataxia to your PopFlock.com topic list or share. Ataxia at popflock.com
http://www.popflock.com/learn?s=Ataxia
ZFIN Gene: cacnb4aZFIN Gene: cacnb4a
Predicted to have high voltage-gated calcium channel activity. Involved in epiboly involved in gastrulation with mouth forming second. Predicted to localize to voltage-gated calcium channel complex. Is expressed in several structures, including cardiovascular system; nervous system; pleuroperitoneal region; presumptive neural retina; and spinal cord neural tube. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4 ...
http://zfin.org/ZDB-GENE-080320-2
Ataxia - wikidocAtaxia - wikidoc
For patient information click here Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor in Chief: M.Umer Tariq [2]; Raviteja Guddeti, M.B.B.S. [3] Synonyms and keywords: Unsteady gait; ataxy; staggering gait; impaired coordination; lack of coordination; incoordination; incoordination of muscle movement ...
https://wikidoc.org/index.php/Ataxia
Generations - National Ataxia FoundationGenerations - National Ataxia Foundation
The National Ataxia Foundation strives to provide the most accurate and validated information to the Ataxia community. The links section of our web site is a comprehensive list of valuable Ataxia related resources provided by other organizations. The National Ataxia Foundation is not responsible for the content or availability of these web sites ...
https://ataxia.org/generations/
Walk N Roll To Cure Ataxia - National Ataxia FoundationWalk N Roll To Cure Ataxia - National Ataxia Foundation
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. ...
https://ataxia.org/walk-n-roll-to-cure-ataxia/
Most recent papers with the keyword Executive Function Disorder | Read by QxMDMost recent papers with the keyword Executive Function Disorder | Read by QxMD
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 ...
https://www.readbyqxmd.com/keyword/98690
Neurology Podcast Search | American Academy of Neurology®Neurology Podcast Search | American Academy of Neurology®
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 ...
https://www.aan.com/rss/Search/home/EpisodeDetail?item=2229&segment=1456
Kidshealth: Ataxic Cerebral Palsy | Akron Childrens HospitalKidshealth: Ataxic Cerebral Palsy | Akron Childrens Hospital
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. ...
https://www.akronchildrens.org/kidshealth/en/parents/ataxic-cp.html
Gait ataxia and Reflex symptoms and Sensory ataxia gait - Symptom Checker - check medical symptoms at RightDiagnosisGait ataxia and Reflex symptoms and Sensory ataxia gait - Symptom Checker - check medical symptoms at RightDiagnosis
List of 487 causes for Gait ataxia and Reflex symptoms and Sensory ataxia gait, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
http://wrongdiagnosis.com/cosymptoms/gait-ataxia/reflex-symptoms/sensory-ataxia-gait.htm
Enzootic equine incoordination | definition of enzootic equine incoordination by Medical dictionaryEnzootic equine incoordination | definition of enzootic equine incoordination by Medical dictionary
Looking for online definition of enzootic equine incoordination in the Medical Dictionary? enzootic equine incoordination explanation free. What is enzootic equine incoordination? Meaning of enzootic equine incoordination medical term. What does enzootic equine incoordination mean?
http://medical-dictionary.thefreedictionary.com/enzootic+equine+incoordination
Ataxic Cerebral Palsy | Cerebral Palsy AllianceAtaxic Cerebral Palsy | Cerebral Palsy Alliance
Cerebral Palsy Alliance is a non-profit that provides services to thousands of people with a disability and their families. Cerebral palsy (CP) is a physical disability that affects the way that a person moves.
https://cerebralpalsy.org.au/our-research/about-cerebral-palsy/what-is-cerebral-palsy/types-of-cerebral-palsy/ataxic-cerebral-palsy/
Características clínicas de 63 pacientes con ataxiaCaracterísticas clínicas de 63 pacientes con ataxia
Background: Ataxia can be classified as genetic, sporadic or acquired. Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of ataxia or ataxic syndrome appeared, were selected for the review. Results: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. Results: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrichs ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. Conclusions: Considering the heterogeneity of patients ...
https://repositorio.udd.cl/handle/11447/2598
Ataxia | Pediatric Infectious Diseases: Essentials for Practice, 2e | AccessPediatrics | McGraw-Hill MedicalAtaxia | Pediatric Infectious Diseases: Essentials for Practice, 2e | AccessPediatrics | McGraw-Hill Medical
Ataxia is defined as the inability to generate a normal voluntary movement trajectory that cannot be attributed to weakness or involuntary muscle activity.1 The word derives from Greek and means without order, referring to disorganized, poorly coordinated, or clumsy movments.2 The disorder may be caused by dysfunction of the cerebellum or its immediate projections, and is traditionally referred to as cerebellar ataxia. In such cases, ataxia may involve appendicular (e.g., limb) or axial (e.g., truncal) control, often affecting balance and gait. Cerebellar ataxia is estimated to affect 26 in 100,000 children worldwide.3 Injuries to the proprioceptive system may also present with clumsy, disorganized movements, known as sensory ataxia. Finally, vestibular injury may affect posture and balance, which much be distinguished from ataxia. This chapter focuses on symptoms, signs, and etiologies of cerebellar ataxia, with an emphasis on infectious and para/postinfectious causes. ...
http://accesspediatrics.mhmedical.com/content.aspx?bookid=2484§ionid=199374488
Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)
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 ...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200014&lng=en&nrm=iso
Ataxia - Simple English Wikipedia, the free encyclopediaAtaxia - Simple English Wikipedia, the free encyclopedia
Sensory ataxia is caused by the loss of proprioception (knowing where parts of the body are). It is usually caused by damage to the parts of the spinal cord that carry information about proprioception to the brain. However, it can also be caused by damage to the parts of the brain that receive that information (the cerebellum, the thalamus, and the parietal lobes of the brain).[1] A person with sensory ataxia may have these symptoms: ...
https://simple.wikipedia.org/wiki/Ataxia
PLOS Genetics: A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum...PLOS Genetics: A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum...
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
http://journals.plos.org/plosgenetics/article/figure?id=10.1371/journal.pgen.1002759.g005
Course and outcome of acute cerebellar ataxia.Course and outcome of acute cerebellar ataxia.
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 ...
https://www.docme.ru/doc/1918865/course-and-outcome-of-acute-cerebellar-ataxia
Hearing Impairment & Mild Truncal Ataxia & Repetitive Eye Blinking Accompanying Visual Hallucinations: Causes & Reasons -...Hearing Impairment & Mild Truncal Ataxia & Repetitive Eye Blinking Accompanying Visual Hallucinations: Causes & Reasons -...
Hearing Impairment & Mild Truncal Ataxia & Repetitive Eye Blinking Accompanying Visual Hallucinations Symptom Checker: Possible causes include Usher Syndrome Type 3B. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
https://www.symptoma.com/en/ddx/hearing-impairment+mild-truncal-ataxia+repetitive-eye-blinking-accompanying-visual-hallucinations
LABOKLIN (UK)| Genetic Diseases | Dogs| Finnish Hound Ataxia / Cerebellar Ataxia (FHA / CAFH)LABOKLIN (UK)| Genetic Diseases | Dogs| Finnish Hound Ataxia / Cerebellar Ataxia (FHA / CAFH)
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. .
http://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8467
Governor Signs Bill Establishing Ataxia Awareness Day | Auburn Mass Daily
This legislation will bring much-needed awareness and public education to this horrible affliction, Senator Moore stated. I applaud John and everyone who has stepped forward and taken on the mission of bringing this issue to the forefront. With more attention and awareness given to Ataxia, together we can find a cure and bring an end to the suffering.. Representative Frost said, Im pleased and honored to have co-sponsored Ataxia Awareness Day on behalf of our constituent, John Mauro and his family. Im proud we are the first state in the nation to do so as well. Thanks to Johns efforts more and more people will better understand this disease. Though John has Ataxia himself, you constantly see him involved in the community and is finding a way to turn his struggle into positive actions and ways to help and inform others.. Although many are not aware of Ataxia, it is estimated that 150,000 people in the United States are affected by this condition. Too often, Ataxia strikes children and ...
https://www.auburnmassdaily.com/archives/10257
Rawal Medical Journal
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 ...
http://rmj.org.pk/?mno=264414
FARA - Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic MiceFARA - Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice
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. ...
http://www.curefa.org/scientific-news/funded-research/mesenchymal-stem-cells-improve-motor-functions-and-decrease-neurodegeneration-in-ataxic-mice
Cerebellar peduncle injury in patients with ataxia following diffuse axonal injury.
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
http://www.biomedsearch.com/nih/Cerebellar-peduncle-injury-in-patients/19505539.html
UniProtKB/SwissProt variant VAR 069569UniProtKB/SwissProt variant VAR 069569
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 ...
http://web.expasy.org/variant_pages/VAR_069569.html
14 January 2020 | ERN-RND webinar inherited ataxias - ataxia-global-initiative
Event name: ERN-RND webinar inherited ataxias. Date: 14 January 2020, 15-16h CET. Presenter: Paola Giunti, UCL Queen Square Institute of Neurology. Audience: Clinical specialists. Venue: Zoom (online). Sign up here!. Find out more about ERN-RND and ERN EURO-NMD webinars here.. ...
http://ataxia-global-initiative.net/14-january-2020-ern-rnd-webinar-inherited-ataxias/
FXTAS, Progressive Supranuclear Palsy May Co-occur, Case Report SaysFXTAS, Progressive Supranuclear Palsy May Co-occur, Case Report Says
A case report describes a 65-year-old man with evidence of both fragile X-associated tremor-ataxia syndrome and progressive supranuclear palsy.
https://fragilexnewstoday.com/2019/11/12/fragile-x-tremor-ataxia-syndrome-may-co-occur-with-progressive-supranuclear-palsy-case-study-reports/
Experimental neurotransplantation treatment for hereditary cerebellar ataxias | Cerebellum & Ataxias | Full TextExperimental neurotransplantation treatment for hereditary cerebellar ataxias | Cerebellum & Ataxias | Full Text
Hereditary cerebellar degenerations are a heterogeneous group of diseases often having a detrimental impact on patients quality of life. Unfortunately, no sufficiently effective causal therapy is available for human patients at present. There are several therapies that have been shown to affect the pathogenetic process and thereby to delay the progress of the disease in mouse models of cerebellar ataxias. The second experimental therapeutic approach for hereditary cerebellar ataxias is neurotransplantation. Grafted cells might provide an effect via delivery of a scarce neurotransmitter, substitution of lost cells if functionally integrated and rescue or trophic support of degenerating cells. The results of cerebellar transplantation research over the past 30 years are reviewed here and potential benefits and limitations of neurotransplantation therapy are discussed.
https://cerebellumandataxias.biomedcentral.com/articles/10.1186/s40673-016-0045-3
Hereditary cerebellar ataxia meaning in Urdu is موروثی سیریبلر اٹیکسیا, موروثی سیریبلر اٹیکسیا - English to Urdu DictionaryHereditary cerebellar ataxia meaning in Urdu is موروثی سیریبلر اٹیکسیا, موروثی سیریبلر اٹیکسیا - English to Urdu Dictionary
Hereditary cerebellar ataxia meanings in Urdu is موروثی سیریبلر اٹیکسیا Hereditary cerebellar ataxia in Urdu. More meanings of hereditary cerebellar ataxia, its definitions, example sentences, related words, idioms and quotations.
https://meaningin.com/english-to-urdu/hereditary-cerebellar-ataxia-meaning-in-urdu
Ataxia in Dogs
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.. ...
http://www.lifelearn-cliented.com/iframe.php?action=view&clinic=4305&rid=11863
Cerebellar ataxia; Ataxia, Cerebellar; Adiadochokinesis; Cerebellar Dysmetria; DysmetriaCerebellar ataxia; Ataxia, Cerebellar; Adiadochokinesis; Cerebellar Dysmetria; Dysmetria
Cerebellar ataxia; Ataxia, Cerebellar; Adiadochokinesis; Cerebellar Dysmetria; Dysmetria. 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.
https://lookfordiagnosis.com/mesh_info.php?term=cerebellar%20ataxia&lang=1
ATAXIA ESPINOCEREBELOSA PDF
ATAXIA ESPINOCEREBELOSA PDF - La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad genética con Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant. Spinocerebellar
https://malkidis.info/ataxia-espinocerebelosa-34/
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Mefirex dan cytotec - Figure 5-5 prostate cancer. Of the available cytotoxic agents, such as adenovirus, scarlet ease requires the female is the most common cause of severe hypogonadism. Inter- who is anemic. Based on the extensor surfaces (elbows, knees, buttocks) and risk for ment of the lower extremities, or it may be fulminant or subfulminant; both forms leads to pain, numbness, sensory ataxia, and nystagmus.
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Quick Answer: Is Cerebellar Ataxia A Disability? - glacieslife.com
Ataxia and fatigue One of the problems commonly reported by people with ataxia is fatigue. Fatigue is described as an overwhelming feeling of physical or mental tiredness. Most of us feel tired after a long day, but people with ataxia can experience tiredness that is quite different without an obvious cause ...
https://glacieslife.com/qa/quick-answer-is-cerebellar-ataxia-a-disability.html
Being a father with ataxia: Richards story | Ataxia UKBeing a father with ataxia: Richards story | Ataxia UK
Richard Brown was diagnosed with Friedreichs ataxia at 14. It had a devastating impact on what things he thought he could do in life. Here, Richard takes us through his thought process in becoming a parent with ataxia.
https://www.ataxia.org.uk/Blog/your-stories-richard-brown
Ataxia | UCLA Health Library, Los Angeles, CAAtaxia | UCLA Health Library, Los Angeles, CA
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.
http://healthinfo.uclahealth.org/Search/85,P08765
Midlander helps spread awareness about ataxia at Detroit Walk and Roll - Midland Daily NewsMidlander helps spread awareness about ataxia at Detroit Walk and Roll - Midland Daily News
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.. ...
https://www.ourmidland.com/news/article/Midlander-helps-spread-awareness-about-ataxia-at-6966716.php
Ataxia and me-Is this the most serious condition you have never heard of?
As social media coordinator for Ataxia and Me, I am excited to announce our new Ataxia-Aware project! Affecting at least 1 in every 50,000 people, this projects aims to to raise awareness for Ataxia and better peoples understanding of the condition. Ataxia is derived from the Greek word meaning
https://www.ataxia-aware.com/post/ataxia-and-me-is-this-the-most-serious-condition-you-have-never-heard-of
Postgraduate Funding | Ataxia Research Grant from National Ataxia FoundationPostgraduate Funding | Ataxia Research Grant from National Ataxia Foundation
Ataxia Research Grant from National Ataxia Foundation, listed on PostgraduateFunding.com - Masters & PhD Grants, Bursaries & Awards Worldwide.
https://www.postgraduatefunding.com/award-1880
How To Treat Acute Cerebellar AtaxiaHow To Treat Acute Cerebellar Ataxia
If your young child is affected by acute cerebellar ataxia, there are options to treat the condition and reduce acute cerebellar ataxia symptoms.
http://www.howtodothings.com/health-fitness/how-to-treat-acute-cerebellar-ataxia
Orthostatic hypotension or ataxia? - Ataxia - MedHelpOrthostatic hypotension or ataxia? - Ataxia - MedHelp
I have had dizziness and incoordination since I was 11yo. Triggers in the early years were indeterminable. I lost control to various degrees but never consciousness with each attack. Episodes lasted ...
https://medhelp.org/posts/Ataxia/Orthostatic-hypotension-or-ataxia/show/2363150
SEIZURESSENSORINEURALDEAFNESSATAXIAMENTALRETARDATIONANDELECTROLYTEIMBALANCESESAMES
Metabolic & Genetic Information Center Inborn erros of metabolism SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES) SESAME SYNDROME EAST SYNDROME
http://www.metagene.de/disease/SEIZURESSENSORINEURALDEAFNESSATAXIAMENTALRETARDATIONANDELECTROLYTEIMBALANCESESAMES_752.html
Caudal fossa respiratory epithelial cyst in a dog: clinical, magnetic resonance imaging, and histopathologic findings |...Caudal fossa respiratory epithelial cyst in a dog: clinical, magnetic resonance imaging, and histopathologic findings |...
Molin J, Rentmeister K, Matiasek K. J Vet Intern Med 2014;28:1336-1340. An 11-month-old female Bloodhound was presented because of progressive ataxia and head
https://avmi.net/information/magnetic-moments/caudal-fossa-respiratory-epithelial-cyst-in-a-dog-clinical-magnetic-resonance-imaging-and-histopathologic-findings/
Information:Ataxia
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 ...
http://infoisfree.com/Ataxiainfo.html
5 Things to Know About Ataxia - Sudabelt Medical Blog - CNS Disease5 Things to Know About Ataxia - Sudabelt Medical Blog - CNS Disease
Do you know about Ataxia & how it affects the Central Nervous System (CNS)? Heres 5 important things to know about Ataxia from Sudabelt Medical Blog
http://sudabelt.com/uncategorized/5-things-to-know-about-ataxia/
When to Euthanize a Dog with Ataxia?When to Euthanize a Dog with Ataxia?
When to Euthanize a Dog with Ataxia? The time to put down a dog with ataxia is when it has reached an incurable stage. Once it gets to a severe level, expend...
https://doglirious.com/when-to-euthanize-a-dog-with-ataxia/
AtaxiaAtaxia
It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. Novel therapies target the RNA defects associated ... The term sensory ataxia is used to indicate ataxia due to loss of proprioception, the loss of sensitivity to the positions of ...
https://en.wikipedia.org/wiki/Ataxia
Ataxia (album)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, ...
https://en.wikipedia.org/wiki/Ataxia_(album)
Ataxia cayennensisAtaxia 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. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, ...
https://en.wikipedia.org/wiki/Ataxia_cayennensis
Spinocerebellar ataxiaSpinocerebellar ataxia
... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, Spinocerebellar ataxia, Ataxia telangiectasia, Vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia ... ataxia at NINDS msa at NINDS opca_doc at NINDS MedlinePlus Encyclopedia: Olivopontocerebellar atrophy Spinocerebellar ataxia 27 ...
https://en.wikipedia.org/wiki/Spinocerebellar_ataxia
Ataxia operariaAtaxia operaria
... is a species of beetle in the family Cerambycidae. It was described by Wilhelm Ferdinand Erichson in 1848, ... BioLib.cz - Ataxia operaria. Retrieved 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1848, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_operaria
Ataxia mucronataAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Taxonbars with automatically added original combinations, Ataxia (beetle), ...
https://en.wikipedia.org/wiki/Ataxia_mucronata
Ataxia spinipennisAtaxia 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. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1862, All stub articles, ...
https://en.wikipedia.org/wiki/Ataxia_spinipennis
Ataxia spinicaudaAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1904, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_spinicauda
Sensory ataxiaSensory ataxia
... is both a symptom and a sign in neurology. It is a form of ataxia (loss of coordination) caused not by ... Sensory ataxia also lacks the associated features of cerebellar ataxia such as pendular tendon reflexes, scanning dysarthria, ... Sensory ataxia is distinguished from cerebellar ataxia by the presence of near-normal coordination when the movement is ... Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N (September 2008). "Autosomal dominant sensory ataxia: a ...
https://en.wikipedia.org/wiki/Sensory_ataxia
Friedreichs ataxiaFriedreich's ataxia
The Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize ... "Friedreich Ataxia Fact Sheet". Archived from the original on 23 January 2019. Retrieved 10 February 2019. "Friedreich ataxia ... Other diagnoses might include Charcot-Marie-Tooth types 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia ... Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017- ...
https://en.wikipedia.org/wiki/Friedreich's_ataxia
Truncal ataxiaTruncal ataxia
... is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs. It is ... Truncal ataxia is caused by midline damage to the cerebellar vermis. There are at least 34 conditions that cause truncal ataxia ... Truncal ataxia (or trunk ataxia) is a wide-based "drunken sailor" gait characterised by uncertain starts and stops, lateral ... As a result of this gait impairment, falling is a concern in patients with ataxia. Truncal ataxia affects the muscles closer to ...
https://en.wikipedia.org/wiki/Truncal_ataxia
Cerebellar ataxiaCerebellar ataxia
Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". ... Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. Primary auto-immune ataxias (PACA) ... Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical ... Drugs have only been studied in degenerative ataxia, and the level of evidence is low." Some effects of cerebellar ataxia may ...
https://en.wikipedia.org/wiki/Cerebellar_ataxia
Ataxia (band)Ataxia (band)
Ataxia wrote and recorded songs for two weeks, and the material was separated into two albums: Automatic Writing (2004) and AW ... Ataxia performed two shows, both at the Knitting Factory in Los Angeles, on February 2 and February 3, 2004. Following this, ... Ataxia was a short-lived American experimental rock supergroup formed in 2004 by guitarist John Frusciante (Red Hot Chili ...
https://en.wikipedia.org/wiki/Ataxia_(band)
Ataxia obscuraAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1801, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_obscura
Ataxia illitaAtaxia illita
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1885. It is known ... BioLib.cz - Ataxia illita. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1885, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_illita
Ataxia cryptaAtaxia crypta
... is a species of beetle in the family Cerambycidae. It was described by Thomas Say in 1831, originally under the ... BioLib.cz - Ataxia crypta. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1831, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_crypta
Harding ataxiaHarding ataxia
Cerebellar ataxia Friedreich ataxia Harding, A. E. (1981). "Early onset cerebellar ataxia with retained tendon reflexes: a ... This form of ataxia is characterized by onset in the first 20 years, and is less severe than Friedreich ataxia. Additional ... Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. This form of cerebellar ... Harding ataxia at the Office of Rare Diseases Research (Articles with short description, Short description matches Wikidata, ...
https://en.wikipedia.org/wiki/Harding_ataxia
Ataxia arizonicaAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1920, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_arizonica
Ataxia brunneaAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1926, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_brunnea
Ataxia alboscutellataAtaxia alboscutellata
... is a species of beetle in the family Cerambycidae. It was described by Warren Samuel Fisher in 1926. It ... BioLib.cz - Ataxia alboscutellata. Retrieved on 8 September 2014. v t e (Articles with short description, Short description ... matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1926, All stub articles, ...
https://en.wikipedia.org/wiki/Ataxia_alboscutellata
Ataxia estoloidesAtaxia estoloides
... is a species of beetle in the family Cerambycidae. It was described by Stephan von Breuning in 1940. It is ... BioLib.cz - Ataxia estoloides. Retrieved on 8 September 2014. v t e (Articles with short description, Short description is ... different from Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, ...
https://en.wikipedia.org/wiki/Ataxia_estoloides
Ataxia prolixaAtaxia prolixa
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1866. It is known ... BioLib.cz - Ataxia prolixa. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Taxonbars with automatically added original combinations, Ataxia (beetle), ...
https://en.wikipedia.org/wiki/Ataxia_prolixa
Ataxia fulvifronsAtaxia fulvifrons
... is a species of beetle in the family Cerambycidae. It was described by Henry Walter Bates in 1885. It is ... BioLib.cz - Ataxia fulvifrons. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1885, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_fulvifrons
Ataxia tibialisAtaxia tibialis
... is a species of beetle in the family Cerambycidae. It was described by Schaeffer in 1908. It is known from the ... BioLib.cz - Ataxia tibialis. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1908, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_tibialis
Ataxia cylindricaAtaxia cylindrica
... is a species of beetle in the family Cerambycidae. It was described by Stephan von Breuning in 1940. It is ... BioLib.cz - Ataxia cylindrica. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1940, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_cylindrica
Ataxia hovoreiAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 2007, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_hovorei
Ataxia perplexaAtaxia 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. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1892, All stub articles, Pteropliini ...
https://en.wikipedia.org/wiki/Ataxia_perplexa
Ataxia variegataAtaxia variegata
... is a species of beetle in the family Cerambycidae. It was described by Warren Samuel Fisher in 1925. It is ... BioLib.cz - Ataxia variegata. Retrieved on 8 September 2014. v t e (Articles with short description, Short description matches ... Wikidata, Articles with 'species' microformats, Ataxia (beetle), Beetles described in 1925, Endemic fauna of Cuba, All stub ...
https://en.wikipedia.org/wiki/Ataxia_variegata
Locomotor ataxiaLocomotor ataxia
... is the inability to precisely control one's own bodily movements. People afflicted with this disease may walk ... Bram Stoker's death certificate named the cause of death as "Locomotor Ataxia 6 months", presumed to be a reference to syphilis ... additional citation(s) needed] Denslow, Legrand N. (1909). "I. The Surgical Treatment of Locomotor Ataxia". Annals of Surgery. ...
https://en.wikipedia.org/wiki/Locomotor_ataxia
Ataxia hubbardiAtaxia hubbardi
BioLib.cz - Ataxia hubbardi. Retrieved on 8 September 2014. Wikispecies has information related to Ataxia hubbardi. v t e ( ... Ataxia hubbardi is a species of beetle in the family Cerambycidae. It was described by Warren Samuel Fisher in 1924. It is ... Articles with short description, Short description matches Wikidata, Articles with 'species' microformats, Ataxia (beetle), ...
https://en.wikipedia.org/wiki/Ataxia_hubbardi
Ataxia Telangiectasia | AT | MedlinePlusAtaxia Telangiectasia | AT | MedlinePlus
Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune ... About Ataxia-Telangiectasia (Ataxia-Telangiectasia Childrens Project) * Ataxia - telangiectasia (Medical Encyclopedia) Also in ... Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) * Ataxia-Telangiectasia (For Parents) (Nemours ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems ...
https://medlineplus.gov/ataxiatelangiectasia.html
Cycling to Help Cure Friedrichs Ataxia - Cross-Country Race to Raise FundsCycling to Help Cure Friedrich's Ataxia - Cross-Country Race to Raise Funds
Kyle Bryant learned he had the progressive neurological disorder Friedrichs ataxia. For years he struggled, until cycling gave ... Friedrichs ataxia. The rare genetic disease, also known as FA, slowly breaks down the nervous system, progressively eroding ... Then in 2009, he became the full time director of rideATAXIA, a program within the Friedrichs Ataxia Research Alliance, or ... a cure for Friedrichs ataxia. Genetic research, funded in part by grants from FARA that rideATAXIA helps make possible, has ...
https://www.bicycling.com/culture/a26390699/kyle-bryant-friedrichs-ataxia/
Physiotherapy Benefits Patients With Degenerative AtaxiaPhysiotherapy Benefits Patients With Degenerative Ataxia
The improvement in ataxia symptoms was less pronounced in the afferent group and did not persist for long-term assessment, the ... As there is no efficient drug treatment for ataxia, we have been telling our patients that they should train a lot and do ... "For us, it would even have been a good result if the patients with cerebellar ataxia were not worse than before training. We ... "We had hoped that at least the patients with cerebellar ataxia would indeed be able to sustain the benefit achieved by the 4- ...
http://www.medscape.com/viewarticle/724451
Friedreichs Ataxia Research Alliance - Meet the CommunityFriedreich's Ataxia Research Alliance - Meet the Community
Friedreichs Ataxia Research Alliance
https://curefa.org/meet-the-community?limit=5&start=25
Ataxia-Telangiectasia in Ophthalmology: Background, Pathophysiology, EpidemiologyAtaxia-Telangiectasia in Ophthalmology: Background, Pathophysiology, Epidemiology
The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral ... is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and ... encoded search term (Ataxia-Telangiectasia in Ophthalmology) and Ataxia-Telangiectasia in Ophthalmology What to Read Next on ... Progressive cerebellar ataxia usually becomes clinically apparent when the child begins to walk. The ataxia affects station, ...
https://emedicine.medscape.com/article/1219140-overview
Ataxia Cab | ReverbNationAtaxia Cab | ReverbNation
Indie music, lyrics, and videos from Portland, OR on ReverbNation
https://www.reverbnation.com/ataxiacab
VIRTUAL Global Ataxia Support Group Meeting - Time Slot #1 - National Ataxia FoundationVIRTUAL Global Ataxia Support Group Meeting - Time Slot #1 - National Ataxia Foundation
Our generous donors help us fund promising Ataxia research and offer support services to people with Ataxia. Your gift today ... VIRTUAL Global Ataxia Support Group Meeting - Time Slot #1. May 5 @ 3:00 pm - 5:00 pm. ... As a member you will receive access to the latest Ataxia news with our e-newsletter and Generations publication. ... Early-bird registration discount for 2023 Annual Ataxia Conference ending soon. LEARN MORE! ...
https://www.ataxia.org/event/virtual-global-ataxia-support-group-meeting-time-slot-1-81/
Medical Definition of Progressive dementia with cerebellar ataxiaMedical Definition of Progressive dementia with cerebellar ataxia
Read medical definition of Progressive dementia with cerebellar ataxia ... Medical Definition of Progressive dementia with cerebellar ataxia. *Medical Editor: Charles Patrick Davis, MD, PhD ... medterms medical dictionary a-z list / progressive dementia with cerebellar ataxia definition ...
https://www.medicinenet.com/progressive_dementia_with_cerebellar_ataxia/definition.htm
ataxia - Wikidataataxia - Wikidata
neurological sign consisting of lack of voluntary coordination of muscle movements
https://www.wikidata.org/wiki/Q213373
Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptorParaneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor
... N Engl J Med. 2000 Jan 6;342(1):21-7. doi: ...
https://pubmed.ncbi.nlm.nih.gov/10620645/?dopt=Abstract
Ataxia Case Study - 1161 Words | Internet Public LibraryAtaxia Case Study - 1161 Words | Internet Public Library
Progressive ataxia due to alpha tocopherol deficiency in Pakistan Introduction Ataxia is a common neurological symptom which is ... ataxias due to metabolic disorders, mitochondrial ataxias, ataxias with a DNA repair defect, and degenerative ataxia with ... Ataxia Telangiectasia Research Paper. 944 Words , 4 Pages. Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is an inherited ... Ataxia Telangiectasia ( ATM gene defect), ataxia with vitamin E deficiency (Alpha tocopherol transfer protein defect), ataxia ...
https://www.ipl.org/essay/Ataxia-Case-Study-FJY8A8ZZ2R
DonateSummerMatch - National Ataxia FoundationDonateSummerMatch - National Ataxia Foundation
Donation match provided by Priority Courier Experts and the Cossack Foundation. Every $1 you donate to the 2022 Research Drive will be matched with a $2 donation!. ...
https://www.ataxia.org/donatesummermatch/
Ataxia | SparrowAtaxia | Sparrow
Autosomal recessive ataxias. * Friedreichs ataxia. This is the most common hereditary ataxia. It involves damage to the ... RFC1 associated ataxia: This is the most common cause of late-onset ataxia. The ataxia symptoms are usually accompanied by ... Autosomal dominant ataxias. *Spinocerebellar ataxias. Researchers have identified more than 40 autosomal dominant ataxia genes ... Ataxia can develop over time or come on suddenly. Ataxia is a sign of several neurological disorders and can cause:. *Poor ...
https://www.sparrow.org/departments-conditions/conditions/ataxia
Search of: ataxia with oculomotor apraxia - Results by Topic - ClinicalTrials.govSearch of: 'ataxia with oculomotor apraxia' - Results by Topic - ClinicalTrials.gov
Were building a better ClinicalTrials.gov. Check it out and tell us what you think ...
https://clinicaltrials.gov/ct2/results/browse?cond=%22ataxia+with+oculomotor+apraxia%22&brwse=locn_cat
620077: Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion) | Labcorp620077: Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion) | Labcorp
Labcorp test details for Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion) ... Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion). TEST: 620077 Test number copied ... Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. ...
https://www.labcorp.com/tests/620077/friedreich-ataxia-genetic-testing-trinucleotide-repeat-expansion
Ataxia - AHealthyMe - Blue Cross Blue Shield of Massachusetts
People with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and trouble ... Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements. ... Ataxia. What is ataxia?. Ataxia is a loss of muscle control. People with ataxia lose muscle control in their arms and legs. ... Key points about ataxia. * People with ataxia lose muscle control in their arms and legs. This may lead to a lack of balance, ...
https://www.ahealthyme.com/YourFamily/Children/NewsRecent/85,P08765
Ataxia MRI - wikidocAtaxia MRI - wikidoc
An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It may also show other ... Retrieved from "https://www.wikidoc.org/index.php?title=Ataxia_MRI&oldid=1654884" ...
https://www.wikidoc.org/index.php/Ataxia_MRI
Friedreichs Ataxia Research Alliance - Nick LeeFriedreich's Ataxia Research Alliance - Nick Lee
Friedreichs Ataxia Research Alliance
https://www.curefa.org/meet-the-community/nick-lee
Friedreichs Ataxia Research Alliance - Privacy PolicyFriedreich's Ataxia Research Alliance - Privacy Policy
Friedreichs Ataxia Research Alliance collects information about our readers so that we can provide a more interesting and ... Friedreichs Ataxia Research Alliance is committed to respecting and protecting your privacy. This Privacy Policy explains what ... such as when you enter contests or other promotions sponsored by Friedreichs Ataxia Research Alliance and/or our partners. We ...
https://curefa.org/privacy-policy
Friedreichs Ataxia Archives - PediaStaffFriedreichs Ataxia Archives - PediaStaff
Call Today at 866-733-4278 or text us at 662-524-9099 or Apply HERE!! A well established and respected speech clinic is seeking to expand their occupational therapy offerings to their patients. We are seeking a therapist to work closely alongside speech-language pathologists and certified ...
https://www.pediastaff.com/tag/friedrichs-ataxia
Cite the term, Ataxia | Psychology Glossary | AlleyDog.comCite the term, Ataxia | Psychology Glossary | AlleyDog.com
Psychology definition for Ataxia in normal everyday language, edited by psychologists, professors and leading students. Help us ... Ataxia. Heres your citation in American Psychological Association (APA) format:. Ataxia. (n.d.). In Alleydog.coms online ... Retrieved from: https://www.alleydog.com/glossary/definition-cit.php?term=Ataxia ...
https://www.alleydog.com/glossary/cite-my-term.php?term=Ataxia
Template:Ataxia: Difference between revisions - wikidocTemplate:Ataxia: Difference between revisions - wikidoc
Retrieved from "https://www.wikidoc.org/index.php?title=Template:Ataxia&oldid=707468" ...
https://wikidoc.org/index.php?title=Template:Ataxia&diff=cur&oldid=704887
SciELO - Brazil - Spinocerebellar ataxia type 6 in Brazil Spinocerebellar ataxia type 6 in BrazilSciELO - Brazil - Spinocerebellar ataxia type 6 in Brazil Spinocerebellar ataxia type 6 in Brazil
spinocerebelar ataxia type 6; autosomal dominant cerebellar ataxia; pure cerebellar ataxia; CACNA1A gene ... Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 ... Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil. ... We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all ...
https://www.scielo.br/j/anp/a/cJbh3kmDJrxf5mLHnbYhVwH/abstract/?lang=en
Spinal cerebellar ataxia 6Spinal cerebellar ataxia 6
Read stories listed under on Spinal cerebellar ataxia 6 ...
https://www.dtnext.in/topic/spinal-cerebellar-ataxia-6
Cerebellum & Ataxias - v2.sherpaCerebellum & Ataxias - v2.sherpa
We provide secure, cost-effective access to the UKs richest collection of digital content: giving you access to the latest data and content from leading international publishers and providers.. Find out more at jisc.ac.uk. ...
https://v2.sherpa.ac.uk/id/publication/35235?template=romeo
Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency |...Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency |...
1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15:1449-1454. ... 1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat ... Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency. ... 1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 4:1671-1672. ...
https://www.jneurosci.org/content/18/8/2842
What is the definition of Hereditary ataxia? | Dictionary.netWhat is the definition of Hereditary ataxia? | Dictionary.net
Hereditary ataxia - A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either X-... ... HEREDITARY ATAXIA \hɪɹˈɛdɪtəɹi atˈe͡ɪksi͡ə], \hɪɹˈɛdɪtəɹi atˈe‍ɪksi‍ə], \h_ɪ_ɹ_ˈɛ_d_ɪ_t_ə_ɹ_i_ a_t_ˈeɪ_k_s_iə]\ ...
https://www.dictionary.net/hereditary%20ataxia
National Ataxia Foundation | Cars Helping CharitiesNational Ataxia Foundation | Cars Helping Charities
NAF is a membership supported, nonprofit organization established in1957 to help persons with ataxia and their families. The ... The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, ... The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, ... The Foundations primary purpose is to support promising ataxia research and to provide vital programs and services for ataxia ...
https://carshelpingcharities.org/cobrand/national-ataxia-foundation/
Friedreichs Ataxia - St. Jude Childrens Research Hospital - Aids Project CIFriedreich's Ataxia - St. Jude Children's Research Hospital - Aids Project CI
Cause of Friedreichs Ataxia. Friedreichs ataxia is hereditary. This means that it is transmitted from parent to child. It is ... How Friedreichs Ataxia Is Diagnosed. Your health care provider does a detailed exam to find out if your child has FA. They ... How Friedreichs Ataxia Is Treated. FA currently has no FDA-approved cure or treatment. But your healthcare team can help your ... Friedreichs ataxia does not affect the part of the brain that controls thinking, learning, and cognition, but it is important ...
https://aidsprojectci.org/friedreichs-ataxia-st-jude-childrens-research-hospital/
Reader Response: Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia | NeurologyReader Response: Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia | Neurology
Despite the patients presentation of truncal ataxia, failure to ambulate independently, and a sudden inability to walk or ... Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia. Neurology. 2022;99(7):305-310. doi:10.1212/WNL.0000000000200906 ... Reader Response: Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia. ...
https://n.neurology.org/content/reader-response-clinical-reasoning-8-year-old-acute-onset-ataxia

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DonateSummerMatch - National Ataxia Foundation
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Kristin W. Baranano, M.D., Ph.D., Assistant Professor of Neurology | Johns Hopkins Medicine
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DailyMed - CAPTOPRIL tablet
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Haemophilus Meningitis Treatment & Management: Approach Considerations, Empiric Antibiotic Therapy, Adjunctive Corticosteroid...
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Friedreich Ataxia | National Institute of Neurological Disorders and Stroke
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Ataxia-Telangiectasia Workup: Laboratory Studies, Imaging Studies, Other Tests
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(emedicine.medscape.com)
Spinal Cord Neoplasms Clinical Presentation: History, Physical
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