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Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The syndrome is named from the main symptoms: cerebellar ataxia (CA), neuropathy (N), vestibular areflexia syndrome (VAS). Individuals with CANVAS often present with poor balance, difficulty walking, chronic cough, and difficulty swallowing. In genetically confirmed cases, the average age of onset was approximately 52 years. While first described in 2004, a genetic basis was not found till 2019, when a biallelic pentanucleotide expansion in the '' RFC1'' gene was found to be a cause of CANVAS. __TOC__ Signs and symptoms Symptoms of CANVAS can vary between affected individuals, but most cases present with some combination of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. Noticeable neurological changes generally first occur around 52 years but have been seen in individuals ranging from 19 to 72 yea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vestibular System
The vestibular system, in vertebrates, is a sensory system that creates the sense of balance and spatial orientation for the purpose of coordinating motor coordination, movement with balance. Together with the cochlea, a part of the auditory system, it constitutes the labyrinth of the inner ear in most Mammal, mammals. As movements consist of rotations and translations, the vestibular system comprises two components: the semicircular canals, which indicate Angular acceleration, rotational movements; and the otoliths, which indicate Acceleration, linear accelerations. The vestibular system sends signals primarily to the neural structures that control eye movement; these provide the anatomical basis of the vestibulo-ocular reflex, which is required for clear vision. Signals are also sent to the muscles that keep an animal upright and in general control Neutral spine, posture; these provide the anatomical means required to enable an animal to maintain its desired position in space. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prevalence
In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number of people found to have the condition with the total number of people studied and is usually expressed as a fraction, a percentage, or the number of cases per 10,000 or 100,000 people. Prevalence is most often used in questionnaire studies. Difference between prevalence and incidence Prevalence is the number of disease cases ''present ''in a particular population at a given time, whereas incidence is the number of new cases that ''develop ''during a specified time period. Prevalence answers "How many people have this disease right now?" or "How many people have had this disease during this time period?". Incidence answers "How many people acquired the disease uring a specified time period". However, mathematically, prevalence is propor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotypes
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intron
An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word ''intron'' is derived from the term ''intragenic region'', i.e., a region inside a gene."The notion of the cistron .e., gene... must be replaced by that of a transcription unit containing regions which will be lost from the mature messenger – which I suggest we call introns (for intragenic regions) – alternating with regions which will be expressed – exons." (Gilbert 1978) The term ''intron'' refers to both the DNA sequence within a gene and the corresponding RNA sequence in RNA transcripts. The non-intron sequences that become joined by this RNA processing to form the mature RNA are called exons. Introns are found in the genes of most eukaryotes and many eukaryotic viruses, and they can be located in both protein-coding genes and genes that function as RNA ( noncoding genes). There are four main types of introns: tRNA introns, group I introns, group I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Counseling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fall Prevention
Fall prevention includes any action taken to help reduce the number of accidental falls suffered by susceptible individuals, such as the elderly and people with neurological ( Parkinson's, Multiple sclerosis, stroke survivors, Guillain-Barre, traumatic brain injury, incomplete spinal cord injury) or orthopedic (lower limb or spinal column fractures or arthritis, post-surgery, joint replacement, lower limb amputation, soft tissue injuries) indications. Adults aged 65 years and older have a 30% chance of falling each year, making fall-related injuries the leading cause of accident-related death for this demographic. Impact of falls Falls and fall-related injuries are among the most common but serious medical problems experienced by older adults. Nearly one-third of older people fall each year, half of which fall more than once per year. Over 3 million Americans over the age of 65 visited hospital emergency departments in 2015 due to fall-related injuries, with over 1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proprioception
Proprioception ( ) is the sense of self-movement, force, and body position. Proprioception is mediated by proprioceptors, a type of sensory receptor, located within muscles, tendons, and joints. Most animals possess multiple subtypes of proprioceptors, which detect distinct kinesthetic parameters, such as joint position, movement, and load. Although all mobile animals possess proprioceptors, the structure of the sensory organs can vary across species. Proprioceptive signals are transmitted to the central nervous system, where they are integrated with information from other Sensory nervous system, sensory systems, such as Visual perception, the visual system and the vestibular system, to create an overall representation of body position, movement, and acceleration. In many animals, sensory feedback from proprioceptors is essential for stabilizing body posture and coordinating body movement. System overview In vertebrates, limb movement and velocity (muscle length and the rate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wheelchair
A wheelchair is a mobilized form of chair using two or more wheels, a footrest, and an armrest usually cushioned. It is used when walking is difficult or impossible to do due to illnesses, injury, disabilities, or age-related health conditions. Wheelchairs provide mobility, postural support, and freedom to those who cannot walk or have difficulty walking, enabling them to move around, participate in everyday activities, and live life on their own terms. Wheelchairs come in a wide variety of formats to meet the specific needs of their users. They may include specialized seating adaptions, and individualized controls, and may be specific to particular activities, as with sports wheelchairs and beach wheelchairs. The most widely recognized distinction is between motorized wheelchairs, where propulsion is provided by batteries and electric motors, and manual wheelchairs, where the propulsive force is provided either by the wheelchair user or occupant pushing the wheelchair by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mobility Aid
A mobility aid is a device designed to assist individuals with impaired movement. These devices help people walk, maintain balance, or get around more easily. Mobility aids include walking supports like canes, crutches, and walkers for those with limited walking ability, as well as wheelchairs and scooters for individuals who cannot walk or need assistance over longer distances. For people who are blind or visually impaired, tools such as white canes and guide dogs offer essential support. There are also aids designed for use within buildings, such as stair lifts and transfer devices that help users move between floors or from one position to another. The term “mobility aid” generally refers to mechanical or assistive devices and is often used in official contexts, including tax or medical equipment classifications. These devices are typically intended to offer mobility similar to what a person might achieve when walking or standing without help. Emerging technologies cont ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exome Sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
