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Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region. This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, France and Spain. The prevalence has been estimated at 1 in 1,900 in Quebec, but it is very rare elsewhere. Symptoms and signs ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. At this time, it manifests as a lack of coordination and balance resulting in frequent falls. Some of the signs and symptoms include: * stiffness of the legs * appendicular and trunk ataxia * hollow foot and hand deformities * ataxic dysarthria * distal muscle wasting * horizontal gaze nystagmus * spasticity Genetics The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegenerative
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Charlevoix
Charlevoix ( , ) is a cultural and natural region in Quebec, on the north shore of the Saint Lawrence River as well as in the Laurentian Mountains area of the Canadian Shield. This dramatic landscape includes rolling terrain, fjords, headlands, and bays; the region was designated a World Biosphere Reserve by UNESCO in 1989. Administratively, it comprises the Charlevoix and Charlevoix-Est regional county municipalities within the larger Capitale-Nationale administrative region. History The region was named after Pierre François-Xavier de Charlevoix, a French Jesuit explorer and historian who travelled through the area in the 18th century. The community of La Malbaie was known as the first resort area in Canada. As early as 1760, Scottish noblemen Malcolm Fraser and John Nairn hosted visitors at their manors. For much of its history, Charlevoix was home to a thriving summer colony of wealthy Americans, including President William Howard Taft. Geography From an admin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Saguenay–Lac-Saint-Jean
Saguenay–Lac-Saint-Jean (, ) is a region in Quebec, Canada. It contains the Saguenay Fjord, the estuary of the Saguenay River, stretching through much of the region. It is also known as Sagamie in French, from the first part of "Saguenay" and the last part of "Piekouagami", the Innu name (meaning "flat lake") for Lac Saint-Jean, with the final "e" added to follow the model of other existing region names such as Mauricie, Témiscamie, Jamésie, and Matawinie. With a land area of 98,712.71 km2 (38,113.9 sq mi), the Saguenay–Lac-Saint-Jean is, after the Nord-du-Québec and Côte-Nord regions, the third-largest of Quebec regions in the area. This region is bathed by two major watercourses, Lac Saint-Jean and the Saguenay River, both of which mark its landscape deeply and have been the main drives of its development in history. It is also irrigated by several other large watercourses. Bordered by forests and mountainous massifs, the southern portion of the region constitute ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Quebec
Quebec ( ; )According to the Government of Canada, Canadian government, ''Québec'' (with the acute accent) is the official name in Canadian French and ''Quebec'' (without the accent) is the province's official name in Canadian English is one of the thirteen provinces and territories of Canada. It is the List of Canadian provinces and territories by area, largest province by area and the second-largest by Population of Canada by province and territory, population. Much of the population lives in urban areas along the St. Lawrence River, between the most populous city, Montreal, and the provincial capital, Quebec City. Quebec is the home of the Québécois people, Québécois nation. Located in Central Canada, the province shares land borders with Ontario to the west, Newfoundland and Labrador to the northeast, New Brunswick to the southeast, and a coastal border with Nunavut; in the south it borders Maine, New Hampshire, Vermont, and New York (state), New York in the United ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- negative prefix+ -τάξις rder= "lack of order". Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysarthria
Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. In other words, it is a condition in which problems effectively occur with the muscles that help produce speech, often making it very difficult to pronounce words. It is unrelated to problems with understanding language (that is, dysphasia or aphasia), although a person can have both. Any of the speech subsystems ( respiration, phonation, resonance, prosody, and articulation) can be affected, leading to impairments in intelligibility, audibility, naturalness, and efficiency of vocal communication. Dysarthria that has progressed to a total loss of speech is referred to as anarthria. The term ''dysarthria'' is from New Latin, ''dys-'' "dysfunctional, impaired" and ''arthr-'' "joint, vocal articulation". Neurological injury due to damage in the central or peripheral nervous system may result in wea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SACS (gene)
Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the ''SACS'' gene. Sacsin is a Hsp70 co-chaperone. Function This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. This modular protein is essential for normal mitochondrial network organization. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. Clinical significance Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative A neurodegenerati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases and disorders are some of those ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
