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)Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.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.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.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.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.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.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.Apgar Score: A method, developed by Dr. Virginia Apgar, to evaluate a newborn's adjustment to extrauterine life. Five items - heart rate, respiratory effort, muscle tone, reflex irritability, and color - are evaluated 60 seconds after birth and again five minutes later on a scale from 0-2, 0 being the lowest, 2 being normal. The five numbers are added for the Apgar score. A score of 0-3 represents severe distress, 4-7 indicates moderate distress, and a score of 7-10 predicts an absence of difficulty in adjusting to extrauterine life.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.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.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.Propensity Score: Conditional probability of exposure to a treatment given observed covariates.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.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.Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment; the overall condition of a human life.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 ProteinsApraxias: 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)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)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)Time Factors: Elements of limited time intervals, contributing to particular results or situations.Syndrome: A characteristic symptom complex.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Predictive Value of Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.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.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)Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.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)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Pain Measurement: Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.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.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.Injury Severity Score: An anatomic severity scale based on the Abbreviated Injury Scale (AIS) and developed specifically to score multiple traumatic injuries. It has been used as a predictor of mortality.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.Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.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)Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Psychometrics: Assessment of psychological variables by the application of mathematical procedures.Intranuclear Inclusion Bodies: Circumscribed masses of foreign or metabolically inactive materials, within the CELL NUCLEUS. Some are VIRAL INCLUSION BODIES.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.Disability Evaluation: Determination of the degree of a physical, mental, or emotional handicap. The diagnosis is applied to legal qualification for benefits and income under disability insurance and to eligibility for Social Security and workmen's compensation benefits.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)ROC Curve: A graphic means for assessing the ability of a screening test to discriminate between healthy and diseased persons; may also be used in other studies, e.g., distinguishing stimuli responses as to a faint stimuli or nonstimuli.Heredodegenerative Disorders, Nervous System: Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.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.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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.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)Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Neuropsychological Tests: Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.Health Status Indicators: The measurement of the health status for a given population using a variety of indices, including morbidity, mortality, and available health resources.Double-Blind Method: A method of studying a drug or procedure in which both the subjects and investigators are kept unaware of who is actually getting which specific treatment.Recovery of Function: A partial or complete return to the normal or proper physiologic activity of an organ or part following disease or trauma.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.Homozygote: An individual in which both alleles at a given locus are identical.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.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)Activities of Daily Living: The performance of the basic activities of self care, such as dressing, ambulation, or eating.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.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.Calcium Channels, Q-Type: CALCIUM CHANNELS located in the neurons of the brain.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.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).Consanguinity: The magnitude of INBREEDING in humans.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Calcium Channels, P-Type: CALCIUM CHANNELS located within the PURKINJE CELLS of the cerebellum. They are involved in stimulation-secretion coupling of neurons.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.Longitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.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)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.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Psychiatric Status Rating Scales: Standardized procedures utilizing rating scales or interview schedules carried out by health personnel for evaluating the degree of mental illness.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.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.Outcome Assessment (Health Care): Research aimed at assessing the quality and effectiveness of health care as measured by the attainment of a specified end result or outcome. Measures include parameters such as improved health, lowered morbidity or mortality, and improvement of abnormal states (such as elevated blood pressure).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.Health Status: The level of health of the individual, group, or population as subjectively assessed by the individual or by more objective measures.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.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)Multivariate Analysis: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.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).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.Linear Models: Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.Depression: Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders.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)Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Muscle Spasticity: A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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)Stroke: A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)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.).Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Observer Variation: The failure by the observer to measure or identify a phenomenon accurately, which results in an error. Sources for this may be due to the observer's missing an abnormality, or to faulty technique resulting in incorrect test measurement, or to misinterpretation of the data. Two varieties are inter-observer variation (the amount observers vary from one another when reporting on the same material) and intra-observer variation (the amount one observer varies between observations when reporting more than once on the same material).Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Patient Satisfaction: The degree to which the individual regards the health care service or product or the manner in which it is delivered by the provider as useful, effective, or beneficial.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.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.Movement Disorders: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.Pain: An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.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.Postural Balance: A POSTURE in which an ideal body mass distribution is achieved. Postural balance provides the body carriage stability and conditions for normal functions in stationary position or in movement, such as sitting, standing, or walking.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Educational Measurement: The assessing of academic or educational achievement. It includes all aspects of testing and test construction.Sickness Impact Profile: A quality-of-life scale developed in the United States in 1972 as a measure of health status or dysfunction generated by a disease. It is a behaviorally based questionnaire for patients and addresses activities such as sleep and rest, mobility, recreation, home management, emotional behavior, social interaction, and the like. It measures the patient's perceived health status and is sensitive enough to detect changes or differences in health status occurring over time or between groups. (From Medical Care, vol.xix, no.8, August 1981, p.787-805)Phosphotransferases (Alcohol Group Acceptor): A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.Shaw Potassium Channels: A shaker subfamily that is prominently expressed in NEURONS and are necessary for high-frequency, repetitive firing of ACTION POTENTIALS.Cognition: Intellectual or mental process whereby an organism obtains knowledge.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Gait: Manner or style of walking.
Side effects such as sedation and ataxia are also less pronounced with nonbenzodiazepine antispasmodics. In a study on the ... no significant differences in pain scores were noted among the three treatment groups. Peak benefit was found to occur on day ... No differences in pain or spasm scores were noted among these agents, nor when compared to benzodiazepines. However, ...
Ataxia or peripheral sensory polyneuropathy (not attributed to other causes). Beyond 60 days of abstinence, the cognitive ... Elevated Hachinski Ischemia Scale score. D. Clinical features that are neither supportive nor cast doubt on the diagnosis of ... the presence of focal neurologic signs or symptoms (except ataxia or peripheral sensory polyneuropathy). Neuroimaging evidence ... as well as the cerebellum that controls coordination thereby leading to the development of cerebellar ataxia. These patients ...
A person with MCI scores between 27 and 30 on the Mini-Mental State Examination (MMSE), which is a normal score. They may have ... xanthomatosis Dentatorubral-pallidoluysian atrophy Epilepsy Fatal familial insomnia Fragile X-associated tremor/ataxia syndrome ... The person usually scores between a 20 and 25 on the MMSE. The symptoms are dependent on the type of dementia a person has. The ... He or she should score between 25-30 on the MMSE. Around 70% of people with MCI go on to develop some form of dementia. MCI is ...
Union Cycliste Internationale (UCI) defines H1 as: Tetraplegia C6 or above and severe athetosis/ataxia/dystonia Tetraplegic ... at C6 or above Complete loss of trunk stability and lower limb function Limited extension of the elbow with a muscle score of 6 ... Severe athetosis/ataxia/dystonia and elbow extension limitation Asymmetric or symmetric quadriplegia with at least grade 3 ...
Ataxia is an unsteady and clumsy motion of the limbs or torso due to a failure of the gross coordination of muscle movements. ... Within 10 years after the onset of MS one-third of patients reach a score of 6 on the Expanded Disability Status Scale (EDSS), ... Tremor and ataxia are frequent in MS and present in 25 to 60% of patients. They can be very disabling and embarrassing, and are ... People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and ...
SCA1 tends to progress faster than SCA2, 3, and 6, with greater annual change in SARA scores and earlier loss of functions ... "Spinocerebellar Ataxia Type 1 , The Ataxia Center , The University of Chicago". ataxia.uchicago.edu. University of Chicago ... and other known types of ataxia, calling the syndrome hereditary cerebellar ataxia, though it became known Marie's ataxia. ... Schut developed ataxia like many of his relatives. In 1957, when Schut's ataxia progressed to a point where he was unable to ...
The scale is scored out of 100 with 19 items and 4 subscales of postural and gait disturbances, limb ataxia, dysarthria, and ... Aug 2007). "Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients". ... and the Brief Ataxia Rating Scale (BARS). The SARA is a shorter, 8 item, 40 point scale which has been validated in ataxia ... The International Cooperative Ataxia Rating Scale (ICARS) is an outcome measure that was created in 1997 by the Committee of ...
In 1963, Allison had 25 doubles, 35 home runs, 91 RBI, led the league in runs scored (99) and in OPS (.911), and earned his ... Allison died of complications from ataxia on April 9, 1995 at the age of 60 in his Rio Verde, Arizona home. Following his death ... Biography portal List of Major League Baseball annual runs scored leaders List of Major League Baseball annual triples leaders ... Allison helped found the Bob Allison Ataxia Research Center at the University of Minnesota along with his wife Betty, sons Mark ...
He is also a former member of the bands Ataxia, Warpaint and The Bicycle Thief. Klinghoffer most commonly plays guitar or drums ... Bob and the Monster Original Score as Josh Klinghoffer (2013) Rare as The Bicycle Thief (2014) with Dot Hacker Dot Hacker EP ( ... He plays drums along with Frusciante and Fugazi bassist Joe Lally in Automatic Writing and AW II, under the name Ataxia. ... AW II as Ataxia (2007) The Empyrean (2009) with Red Hot Chili Peppers I'm with You (2011) Red Hot Chili Peppers Live: I'm with ...
The lower the Glasgow Coma Score (GCS), the higher the chance of Neurostorming. Neurostorms occur when the patient's Autonomic ... Other movement disorders that may develop after TBI include tremor, ataxia (uncoordinated muscle movements), and myoclonus ( ... ataxia (lack of coordination or balance), incontinence, or signs of elevated ICP. Any damage to the head or brain usually ...
The two-time Major League All-Star would help found the Bob Allison Ataxia Research Center at the University of Minnesota in ... Robert Jaderland led the league with 113 runs scored, while Clarence Riddle had a league-topping 93 RBIs. Riddle also led the ... Miff Davidson led the Piedmont League in its final season with 103 runs scored and 164 hits. Davidson also pounded 30 home runs ... losing by a 3-2 score. The game stands as the longest in Inter-State League history as well as the longest at Municipal Stadium ...
In a few scores, the sharp A in the bass clef is written on the top line. Few symphonies are written in G ♯ minor; among them ... "Montréal", the fifth and final song on Automatic Writing by experimental rock group Ataxia, is in G-sharp minor. "Passionfruit ...
It includes people who have coordination impairments such as hypertonia, ataxia and athetosis. It is the athletics equivalent ... Many have their own minimum qualifying times and scores. The classification was created by the International Paralympic ... ataxia and athetosis)". Multiple types of disabilities are eligible to compete in this class. This class includes people who ...
... can also present as a milder form with episodic seizures, ataxia, movement disorders, and gaze palsy ... All forms of glycine encephalopathy present with only neurological symptoms, including mental retardation (IQ scores below 20 ...
The degree of success in achieving each task is given a score of zero (unable) to four (independent), and the final measure is ... Ataxia, vertigo, cardiovascular disease and respiratory disease. The Berg Balance Scale Test can be administered every few ... The use of the BBS as an outcome measure is compromised when participants score high on initial trials. In initial development ... and a score of 45 has been shown to be an appropriate cut-off for safe independent ambulation and the need for assistive ...
2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. ... 2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. ...
It is available as a transparent liquid with a characteristic strong aroma, and as white bi-concave scored tablets. While not ... Symptoms of overdose include central nervous system depression, confusion, dizziness, ataxia, and somnolence. In serious cases ...
The only treatment for CD, dermatitis herpetiformis (DH) and gluten ataxia is lifelong adherence to a GFD. Hischenhuber C, ... a recent study indicated that a decrease of the global symptom score higher than 50% after GFD can be regarded as confirmatory ...
A scoring system called ROSIER (recognition of stroke in the emergency room) is recommended for this purpose; it is based on ... ataxia might be present and this includes: altered walking gait altered movement coordination vertigo and or disequilibrium ...
Scores on IQ tests and educational achievement were lower for the young onset ADEM group (average IQ 90) compared to the late ... the range in severity from mild clumsiness to ataxia and hemiparesis. Patients with demyelinating illnesses, such as MS, have ... onset (average IQ 100) and control groups (average IQ 106), while the late onset ADEM children scored lower on verbal ...
Gluten ataxia accounts for 40% of ataxias of unknown origin and 15% of all ataxias.[57][59] Less than 10% of people with gluten ... a recent study indicated that a decrease of the global symptom score higher than 50% after GFD can be regarded as confirmatory ... Gluten ataxia is an autoimmune disease triggered by the ingestion of gluten.[56] With gluten ataxia, damage takes place in the ... People with gluten ataxia usually present gait abnormality or incoordination and tremor of the upper limbs. Gaze-evoked ...
Increase in nervous system symptoms: Dizziness, ataxia or near syncope Moderate to severe anginal pain (above 3 on standard 4- ... Examples of anatomical methods CT coronary calcium score Coronary CT angiography Intima-media thickness (IMT) Intravascular ...
A LOS scores close to 100 represents no sway and hence reduced risk of fall, while scores close to 0 imply a higher risk of ... ataxia, or poor motor control Musculoskeletal Impairements such as weakness, limited ROM, pain Emotional Overlay like fear or ...
LOD score - lymphocyte - M13 phage - malformation - mapping - marker - melanoma - melting - Johann Mendel - Mendelian ... ataxia-telangiectasia - ATG or AUG - autoimmune lymphoproliferative syndrome - autoradiography - autosomal dominant - autosome ...
... and temazepam had higher scores and thus can be seen as relatively favorable. Lormetazepam is considered a hypnotic ... somnolence paradoxical increase in aggression lightheadedness confusion muscle weakness ataxia (particularly in the elderly) ...
... ataxia - attenuated - autoantibody - autoimmunization - autoinoculation - autologous - avascular necrosis (AVN) - AVN ... Kaposi's sarcoma (KS) - Karnofsky score - killer T cells - KSHV - Kupffer cells LEdit. Langerhans cells - LAS - lentivirus - ...
... which was videotaped and subsequently scored in a blinded fashion.Penetrance of intention tremor and ataxia among adult ... Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population Academic Article * View ... Since male premutation carriers are relatively common in the general population, older men with ataxia and intention tremor ... The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor. Additional ...
Abstracts: Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in ...
... we tested functional score regression. In this experiment we consider the regression of functional staging score for ataxia ( ... we tested functional score regression. In this experiment we consider the regression of functional staging score for ataxia ( ... we tested functional score regression. In this experiment we consider the regression of functional staging score for ataxia ( ... Deep Learning for Cerebellar Ataxia classification and Functional Score regression}}. {{h2,Deep Learning for Cerebellar Ataxia ...
... we tested functional score regression. In this experiment we consider the regression of functional staging score for ataxia ( ... Deep Learning for Cerebellar Ataxia classification and Functional Score regression. Contents. *1 Deep Learning for Cerebellar ... Deep Learning for Cerebellar Ataxia Classification and Functional Score Regression. From IACL ... For regression, the final score is the average score predicted by C from multiple samples. ...
Disruption of Higher Order DNA Structures in Friedreichs Ataxia (GAA)(n) Repeats by PNA or LNA Targeting. Bergquist, Helen ... first intron of the Frataxin gene is associated with reduced mRNA and protein levels and the development of Friedreichs ataxia ...
Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxia.. Ahsgren, Ingegerd ... Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had borderline ataxia. All but one of the 32 children ... Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or ... Adolescent, Adult, Attention Deficit Disorder with Hyperactivity/diagnosis/physiopathology, Cerebellar Ataxia/*congenital/ ...
Method: A total of 5 patients with spinocerebellar ataxia 3 or 7 or Friedreichs ataxia were included in this observational ... Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms. Berntsson, Shala G. Uppsala ... Objectives: The objective of this study was to assess the effectiveness of the ITB in patients with inherited ataxia suffering ... Conclusions: We report the potential beneficial effects of ITB treatment in patients with inherited ataxia who also suffer from ...
ICARS scores, SARA scores, Quantitative Sway/Balance assessment, Tremor Rating Scale scores, dexterity evaluation, sleep ... Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 6 ... Ataxia. Cerebellar Ataxia. Spinocerebellar Ataxias. Spinocerebellar Degenerations. Cerebellar Diseases. Dyskinesias. Neurologic ... Genetic and Rare Diseases Information Center resources: Spinocerebellar Ataxia Spinocerebellar Ataxia 1 ...
The sum of component scores yields the final BBS score (0-20: high fall risk; 21-40: medium fall risk; 41-56: low fall risk). ... Assess the Effect of Zolpidem, Silenor & Placebo on Arousability, Ataxia/Balance & Cognition in Healthy Volunteers. The safety ... Epworth Sleepiness Scale score ≤ 10;. *Be able to read, understand, and provide written/dated informed consent before enrolling ... Proposed supplements and amendments to A Manual of Standardized Terminology, Techniques and Scoring System for Sleep Stages of ...
The secondary outcome would also be the SARA score [ Time Frame: 10 months ]. The SARA score and its association with the DAT ... Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 6 ... Ataxia. Cerebellar Ataxia. Spinocerebellar Ataxias. Spinocerebellar Degenerations. Parkinsonian Disorders. Dyskinesias. ... The secondary outcome would be the INAS score [ Time Frame: 10 months ]. INAS score and its association with the DAT density ...
... is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, often leading to severe ... Friedreich ataxia Ataxia score Dysarthria Intelligibility Dysarthria severity Abbreviation. BoDyS. Bogenhausen Dysarthria ... Friedreich ataxia (FRDA) is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, ... The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreichs ataxia. J Neurol. 2012; ...
Patients with SCA2 had higher CCFS scores than patients with SCA1 and SCA3, but similar SARA scores. ... Background Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress ... Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We ... Increases in CCFS and SARA scores per year were lower for FRDA than for SCA (CCFS index: 0.123±0.123 per year vs 0.163±0.179, P ...
The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant ... Episodic ataxias are ion channel disorders characterized by attacks of incoordination. ... Lod Score. Male. Middle Aged. Mutation / genetics*. Pedigree. Phenotype. Vertigo / diagnosis, genetics, physiopathology. ... yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene. ...
SCA1 tends to progress faster than SCA2, 3, and 6, with greater annual change in SARA scores and earlier loss of functions ... "Spinocerebellar Ataxia Type 1 , The Ataxia Center , The University of Chicago". ataxia.uchicago.edu. University of Chicago ... and other known types of ataxia, calling the syndrome hereditary cerebellar ataxia, though it became known Maries ataxia. ... Schut developed ataxia like many of his relatives. In 1957, when Schuts ataxia progressed to a point where he was unable to ...
The scale is scored out of 100 with 19 items and 4 subscales of postural and gait disturbances, limb ataxia, dysarthria, and ... Aug 2007). "Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients". ... and the Brief Ataxia Rating Scale (BARS). The SARA is a shorter, 8 item, 40 point scale which has been validated in ataxia ... The International Cooperative Ataxia Rating Scale (ICARS) is an outcome measure that was created in 1997 by the Committee of ...
... is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral... ... Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) ... The maximum scores on composite subscores may range from 0 (no ataxia) to 4 (severe ataxia). A "remaining" ataxia composite ... Averaging the scores of SARA items 1, 2, and 8 generated a lower body ataxia composite subscore that ranges from 0 (no ataxia) ...
B) Quantification of pNfl score showing the percentage of low, intermediate, and high BC scores; 100 BCs/sample were counted. ( ... In the case of SCA1, the site of greatest damage, and the source of the clinical presentation of ataxia, is the cerebellum (4, ... A mouse model of episodic ataxia type-1. Nat Neurosci. 2003;6(4):378-383.. View this article via: PubMed CrossRef Google ... Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014;51(7):479-486.. View this ...
The total severity score decreased by 61.1% after rituximab. Patients ataxia markedly improved that she was able to walk ... Opsoclonus myoclonus ataxia syndrome (OMS) is a rare neurologic syndrome. In a high proportion of children, it is associated ... Our patient was a 3.5-year-old girl referred for ataxia and dancing eye movements starting since 1.5 years ago. She was ... Clinical Responses to Rituximab in a Case of Neuroblastoma with Refractory Opsoclonus Myoclonus Ataxia Syndrome. Samin Alavi,1 ...
SARA scores significantly improved in all patients at the dosage of 0.03 mg/kg/day. In particular, three patients exhibited an ... Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.. Broccoletti T1, Del Giudice E, ... Ataxia-telangiectasia (A-T) is a non-curable neurodegenerative disorder, associated with progressive neurological dysfunction, ... Neurological assessment was performed through the Scale for the Assessment and Rating of Ataxia (SARA). The glucocorticoid- ...
Scores from SHIRPA analysis were analyzed by a nonparametric Mann-Whitney U test. Comparisons were considered statistically ... Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. Francesca Maltecca,1 Elisa Baseggio,1 Francesco Consolato, ... Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006;38(2):184-190.. View this article via: PubMed CrossRef ... Matilla-Duenas A. Machado-Joseph disease and other rare spinocerebellar ataxias. Adv Exp Med Biol. 2012;724:172-188.. View this ...
The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense ... is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. ... Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, ... Altmetric score. Altmetric calculates a score based on the online attention an article receives. Each coloured thread in the ...
... is the most common autosomal recessive ataxia. Disease-modifying treatments are not available yet; however, several compounds ... is the most common autosomal recessive ataxia. Disease-modifying treatments are not available yet; however, several compounds ... The mean total SARA score (±SD) was 20.44 ± 7.40. The SARA score correlated directly with the disease duration (rs = 0.57, p , ... Background: Friedreichs ataxia (FRDA) is the most common autosomal recessive ataxia. Disease-modifying treatments are not ...
7C). In addition, Cacna1apurk(−/−) mice were not able to cling to the pole and were scored with the maximal time of 120 s. We ... Ataxia. We next analyzed the behavioral consequences of the conditional knock-out of P/Q-type channels in PCs. Cacna1apurk(−/−) ... Averages from the BMS scores, subscores, and a combination of both scores were calculated. ... The ataxia can be easily visualized in a footprint assay of spontaneous gait that demonstrates a difference in stride length ...
SCOPA-Aut scores were significantly predicted by disease severity. At CAFT, FRDAs did not differ from controls except for ... Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreichs Ataxia Consortium for ... Autonomic function testing in Friedreichs ataxia Details Written by Jane Larkindale Category: Scientific News Written: Monday ... Friedreich ataxia (FRDA) is an inherited movement disorder which manifests with progressive gait instability, sensory loss and ...
... while the maximum LOD score was 4.90 (θ = 0) at marker D8S1791. Multipoint analysis of the area, increasing the LOD score to ... Biemonds ataxia is an autosomal dominant posterior column ataxia characterised by a reduction of sensory action potentials on ... Nachmanoff DB, Segal RA, Dawson DM, Brown RB, De Girolami U. Hereditary ataxia with sensory neuronopathy: Biemonds ataxia. ... The clinical and genetic heterogeneity of ataxias is best represented by the autosomal dominant cerebellar ataxias (ADCAs). ...
  • The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor. (edu.au)
  • 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. (edu.au)
  • P =.003) of combined intention tremor and gait ataxia when compared with male controls. (edu.au)
  • Since male premutation carriers are relatively common in the general population, older men with ataxia and intention tremor should be screened for the FMR1 mutation, especially if these signs are accompanied by parkinsonism, autonomic dysfunction, or cognitive decline, regardless of family history. (edu.au)
  • Severe gait and truncal ataxia are striking features suggesting that the disease predominantly affects midline cerebellar structures. (ispub.com)
  • This is a key event for researchers, clinicians and representatives from pharma/biotech companies who have interest in research on ataxia. (ataxia.org.uk)
  • grouped them into recognizable and more or less specific phenotypes: (a) ataxia with neuro(no)pathy, (b) spastic ataxia, (c) ataxia with oculomotor apraxia, and (d) Ramsay Hunt syndrome. (springer.com)
  • In tis work, we propose a learning framework using MR image data for discriminating a set of cerebellar ataxia types and predicting a disease related functional score. (jhu.edu)
  • We presented a learning framework for MR image based classification of cerebellar ataxia types and prediction of a disease related functional score. (jhu.edu)
  • Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability. (diva-portal.org)
  • Our hypothesis is that parkinsonism and other non-ataxia spectrum and striatal dopaminergic neurodegeneration are part of the SCA6 disease spectrum. (clinicaltrials.gov)
  • The family has a novel neurodegenerative disease characterised by sensory (posterior column) ataxia and variable pyramidal weakness but with no overt signs of peripheral sensory or motor neuropathy. (bmj.com)
  • A comprehensive literature search using these criteria identified 153 originally designed semiquantitative scoring systems for the analysis of morphologic changes in mouse models covering almost all organs systems and a wide variety of disease models. (biomedcentral.com)
  • Of these, colitis, experimental autoimmune encephalitis, lupus nephritis and collagen induced osteoarthritis colitis were the disease models with the largest number of different scoring systems. (biomedcentral.com)
  • Ataxia-telangiectasia (A-T) is a non-curable neurodegenerative disorder, associated with progressive neurological dysfunction, oculocutaneous telangiectasia, immunodeficiency, predisposition to cancer and radiosensitivity. (nih.gov)
  • We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein. (pnas.org)
  • By contrast, KU-55933 did not potentiate the cytotoxic effects of ionizing radiation on ataxia-telangiectasia cells, nor did it affect their cell cycle profile after DNA damage. (aacrjournals.org)
  • Along with the cerebellar atrophy and associated ataxia, Cacna1a mutations produce seemingly unrelated paroxysmal phenotypes appearing at distinct developmental stages ( Pietrobon, 2010 ). (jneurosci.org)