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The Myelin Project
The Myelin Project is 501(c)(3) nonprofit organization established in 1989 by Augusto Odone and his wife, Michaela. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the Odones' struggle was dramatized in the 1992 film ''Lorenzo's Oil''. The Myelin Project has three branches in the United States, Germany, and the United Kingdom. The Myelin Project's scientific advisory committee includes researchers from Yale University and the University of Wisconsin–Madison in the United States, the Istituto Superiore di Sanità and San Raffaele Hospital in Italy, the Hôpital de la Salpêtrière and the Institute Pasteur in France, Queen's University at Kingston in Canada, the University of Cambridge and University of Edinburgh in the United Kingdom, and the Max-Planck-Institut in Germany. The project's aims The Myelin Project aims to advance research, advocacy, and family support for ALD and adrenomyeloneuropathy (AMN). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
501(c)(3)
A 501(c)(3) organization is a United States corporation, trust, unincorporated association or other type of organization exempt from federal income tax under section 501(c)(3) of Title 26 of the United States Code. It is one of the 29 types of 501(c) nonprofit organizations in the US. 501(c)(3) tax-exemptions apply to entities that are organized and operated exclusively for religious, charitable, scientific, literary or educational purposes, for testing for public safety, to foster national or international amateur sports competition, or for the prevention of cruelty to children or animals. 501(c)(3) exemption applies also for any non-incorporated community chest, fund, cooperating association or foundation organized and operated exclusively for those purposes. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions. Clinically, ALD presents as a heterogeneous disorder, showing several distinct phenotypes, and no clear pattern of genotype–phenotype correlation. As an X-linked disorder, ALD presents most commonly in males; however, approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lorenzo's Oil
''Lorenzo's Oil'' is a 1992 American drama film directed and co-written by George Miller. It is based on the true story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil. The film was shot in Pittsburgh, Pennsylvania, primarily from September 1991 to February 1992. It had a limited release in North America on December 30, 1992, with a nationwide release two weeks later, on January 15, 1993. Though it was a box office disappointment, grossing $7.2 million against its $30 million budget, the film was generally well received by the critics and garnered two nominations at the 65th Academy Awards. Plot Lorenzo is a bright and vibrant young boy living in the Comoro Islands, as his father Augusto Odone works for the World Bank and is stationed there. However, after relocating with his parents to the United States, he begins to show signs of neurological problems (such as fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arachnoiditis
Arachnoiditis is an inflammatory condition of the arachnoid mater or 'arachnoid', one of the membranes known as meninges that surround and protect the nerves of the central nervous system, including the brain and spinal cord. The arachnoid can become inflamed because of adverse reactions to chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, complications from spinal surgery or other invasive spinal procedures, or the accidental intrathecal injection of steroids intended for the epidural space. Inflammation can sometimes lead to the formation of scar tissue and adhesion that can make the spinal nerves "stick" together,NINDS Arachnoiditis Information Page |
Charcot–Marie–Tooth Disease
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925). There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy. Signs and symptoms Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammertoe, where the toes are always curled. Wasting of muscle tissue of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Multiple Sclerosis
Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. Specific symptoms can include double vision, blindness in one eye, muscle weakness, and trouble with sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In the relapsing forms of MS, between attacks, symptoms may disappear completely, although some permanent neurological problems often remain, especially as the disease advances. While the cause is unclear, the underlying mechanism is thought to be either destruction by the immune sys ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transverse Myelitis
Transverse myelitis (TM) is a rare neurological condition wherein the spinal cord is Inflammation, inflamed. The adjective ''wikt:transverse#Adjective, transverse'' implies that the spinal inflammation (myelitis) extends horizontally throughout the cross section (geometry), cross section of the spinal cord; the terms ''partial transverse myelitis'' and ''partial myelitis'' are sometimes used to specify inflammation that affects only part of the width of the spinal cord. TM is characterized by weakness and numbness of the limbs, deficits in sensation and motor skills, dysfunctional urethral and anal sphincter activities, and dysfunction of the autonomic nervous system that can lead to episodes of high blood pressure. Signs and symptoms vary according to the affected level of the spinal cord. The underlying cause of TM is unknown. The spinal cord inflammation seen in TM has been associated with various infections, immune system disorders, or damage to axon, nerve fibers, by demyelin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Refsum Disease
Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice. Presentation Individuals with Refsum disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation or remission occur. Symptoms also include ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including retinitis pigmentosa, cataracts, and night blindness. In 80% of patie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is due to mutations in the '' PAH'' gene, which results in low levels of the enzyme phenylalanine hydroxylase. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the diseas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pelizaeus–Merzbacher Disease
Friedrich Christoph Pelizaeus, Pelizaeus–Ludwig Merzbacher, Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (''PLP1''), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a group of genetic diseases referred to as leukodystrophies. Signs and symptoms The hallmark signs and symptoms of Pelizaeus–Merzbacher disease include little or no movement in the arms or legs, respiratory difficulties, and characteristic horizontal movements of the eyes left to right. The onset of Pelizaeus–Merzbacher disease is usually in early infancy. The most characteristic early signs are pathologic nystagmus, nystagmus (rapid, involuntary, rhythmic motion of the eyes) and hypotonia, low muscle tone. Motor abilities are delayed or never acquired, mostly depending upon the severity of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Signs and symptoms Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult. * In the ''late infantile form'', which is the most common form of MLD (50–60%), affected children begin having difficulty walking after the first year of life, usually at 15–24 months. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Krabbe Disease
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961). Signs and symptoms Symptoms in asymptomatic infantile-onset (<12 months after birth) and later-onset Krabbe disease present themselves differently. Of individuals with infantile-onset Krabbe disease, 85–90% display progressive neurologic deterioration in infancy and death before the age of two. Symptoms include , s, limb stiffness, [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
