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The Stennis Foundation
The Stennis Foundation is a registered nonprofit organization based in the U.S. The foundation is primarily a fundraising organization, sending money to various research projects. Currently, the Stennis Foundation supports research at Duke, Kennedy Krieger, and San Raffaele Institute in Milan, Italy. According to their website, the Stennis Foundation is committed to raising public awareness regarding the leukodystrophies, and funds for related research. Their goal is to advance research through proper funding. Their mission statement is, "One Step Closer to a Cure." The foundation's beginnings were inspired by Dr. Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset metachromatic leukodystrophy. Conditions of interest *Leukodystrophy *Metachromatic leukodystrophy *Adrenoleukodystrophy *Krabbe disease *Alexander disease *Canavan disease *Pelizaeus–Merzbacher disease Pelizaeus– Merzbacher disease is an X-linked neurological diso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonprofit Organization
A nonprofit organization (NPO) or non-profit organisation, also known as a non-business entity, not-for-profit organization, or nonprofit institution, is a legal entity organized and operated for a collective, public or social benefit, in contrast with an entity that operates as a business aiming to generate a Profit (accounting), profit for its owners. A nonprofit is subject to the non-distribution constraint: any revenues that exceed expenses must be committed to the organization's purpose, not taken by private parties. An array of organizations are nonprofit, including some political organizations, schools, business associations, churches, social clubs, and consumer cooperatives. Nonprofit entities may seek approval from governments to be Tax exemption, tax-exempt, and some may also qualify to receive tax-deductible contributions, but an entity may incorporate as a nonprofit entity without securing tax-exempt status. Key aspects of nonprofits are accountability, trustworth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Milan
Milan ( , , Lombard: ; it, Milano ) is a city in northern Italy, capital of Lombardy, and the second-most populous city proper in Italy after Rome. The city proper has a population of about 1.4 million, while its metropolitan city has 3.26 million inhabitants. Its continuously built-up urban area (whose outer suburbs extend well beyond the boundaries of the administrative metropolitan city and even stretch into the nearby country of Switzerland) is the fourth largest in the EU with 5.27 million inhabitants. According to national sources, the population within the wider Milan metropolitan area (also known as Greater Milan), is estimated between 8.2 million and 12.5 million making it by far the largest metropolitan area in Italy and one of the largest in the EU.* * * * Milan is considered a leading alpha global city, with strengths in the fields of art, chemicals, commerce, design, education, entertainment, fashion, finance, healthcar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Italy
Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical region. Italy is also considered part of Western Europe, and shares land borders with France, Switzerland, Austria, Slovenia and the enclaved microstates of Vatican City and San Marino. It has a territorial exclave in Switzerland, Campione. Italy covers an area of , with a population of over 60 million. It is the third-most populous member state of the European Union, the sixth-most populous country in Europe, and the tenth-largest country in the continent by land area. Italy's capital and largest city is Rome. Italy was the native place of many civilizations such as the Italic peoples and the Etruscans, while due to its central geographic location in Southern Europe and the Mediterranean, the country has also historically been home ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukodystrophy
Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white matter in the brain. The word ''leukodystrophy'' comes from the Greek roots ''leuko'', "white", ''dys'', "abnormal" and ''troph'', "growth". The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause. When damage occurs to white matter, immune responses can lead to inflammation in the central nervous system (CNS), along with loss of myelin. The degeneration of white matter can be seen in an MRI scan and used to diagnose leukodystrophy. Leukodystrophy is characterized by specific symptoms including decreased motor function, muscle rigidity, and eventual dege ... [...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, pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukodystrophy
Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white matter in the brain. The word ''leukodystrophy'' comes from the Greek roots ''leuko'', "white", ''dys'', "abnormal" and ''troph'', "growth". The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause. When damage occurs to white matter, immune responses can lead to inflammation in the central nervous system (CNS), along with loss of myelin. The degeneration of white matter can be seen in an MRI scan and used to diagnose leukodystrophy. Leukodystrophy is characterized by specific symptoms including decreased motor function, muscle rigidity, and eventual dege ... [...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, pr ... [...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 ce ... [...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] |
Alexander Disease
Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin which protects nerve fibers in the brain. The most common type is the infantile form that usually begins during the first 2 years of life. Symptoms include mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size and seizures. The juvenile form of Alexander disease has an onset between the ages of 2 and 13 years. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis, or may present primarily as a psychiatric disorder. According to the National Institute of Neurological Disorders and Stroke, the destruction of white matter is accompanied by the formation of Rosenthal fib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Canavan Disease
Canavan disease, or Canavan-Van Bogaert-Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17. Symptoms and signs Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness - hypotonia - that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pelizaeus–Merzbacher Disease
Pelizaeus– 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 nystagmus (rapid, involuntary, rhythmic motion of the eyes) and low muscle tone. Motor abilities are delayed or never acquired, mostly depending upon the severity of the mutation. Most children with Pelizaeus–Merzbacher disease learn to underst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
