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Topic: Leukodystrophy


In the News (Sat 28 Nov 09)

  
  Leukodystrophy: Encyclopedia of Genetic Disorders
Leukodystrophy describes a collection of about 15 rare genetic disorders that effect the brain, spinal cord and peripheral nerves.
Leukodystrophies covered as separate entries in this encyclopedia are adrenoleukodystrophy (ALD)/adrenomyeloneuropathy (AMN), Aicardi-Goutieres syndrome, canavan disease (spongy degeneration), Krabbe disease (globoid cell leukodystrophy), neonatal adrenoleukodystrophy, Pelizaeus-Merzbacher disease (X-linked spastic paraplegia), Refsum disease, and Zellweger syndrome.
Leukodystrophies are occasionally misdiagnosed as muscular dystrophy, since they all are neurological disorders involving white matter.
health.enotes.com /genetic-disorders-encyclopedia/leukodystrophy   (1344 words)

  
 What is Leukodystrophy? - United Leukodystrophy Foundation
The leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells.
Leukodystrophies are mostly inherited disorders, meaning that it is passed on from parent to child.
However, the cause is different; whereas leukodystrophies are generally caused by a defect in one of the genes involved with the growth or maintenance of the myelin, MS is thought to be caused by an attack on the myelin by the body’s own immune system.
www.ulf.org /whatis.html   (830 words)

  
 MedFriendly.com: Metachromatic leukodystrophy   (Site not responding. Last check: 2007-11-05)
Metachromatic leukodystrophy is a type of metabolic disorder that leads to a deadly build up of fats (known as lipids) in the body and the destruction of myelin.
Metachromatic leukodystrophy is an inherited disorder, meaning that it is passed on to the child from the parents' genes.
In metachromatic leukodystrophy, the myelin is destroyed in the brain, spine, and the peripheral nerves (nerves outside of the brain and spine).
www.medfriendly.com /metachromaticleukodystrophy.html   (737 words)

  
 Leukodystrophy
Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain.
The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease.
Treatment of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs.
healthlink.mcw.edu /article/921774741.html   (235 words)

  
 Leukodystrophy, Metachromatic
Metachromatic Leukodystrophy is inherited as an autosomal recessive genetic trait.
Canavan's Leukodystrophy is caused by a deficiency of the enzyme aspartoacylase.
Krabbe's Leukodystrophy is a rare inherited metabolic disorder characterized by the abnormal accumulation of a fatty substance (ceremide galactoside) in the brain.
hw.healthdialog.com /kbase/nord/nord212.htm   (2413 words)

  
 Introduction to Leukodystrophy
The leukodystrophies are genetically determined progressive disor- ders that affect the brain, spinal cord and peripheral nerves.
Sharply to be distinguished from the leukodystrophies are disorders due to inflammation, infections, or tumors.
Canavan disease is a form of leukodystrophy which causes the white matter of the brain to be replaced by microscopic fluid filled spaces.
www.oil4kids.com /aldinfo.htm   (3300 words)

  
 Leukodystrophy - WrongDiagnosis.com
Examples of leukodystrophies are Krabbe's disease and metachromatic leukodystrophy.
Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber.
Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals.
www.wrongdiagnosis.com /l/leukodystrophy/intro.htm   (391 words)

  
 Baylor Neurology Case of the Month   (Site not responding. Last check: 2007-11-05)
Leukodystrophies with megalencephaly include Canavan's, Alexander's, and a recently described leukodystrophy with a milder clinical course.
In summary, leukodystrophy with megalencephaly and hypomyelination may be ascribed to Canavan's, Alexander's, or a milder form of leukodystrophy, but laboratory differences and clinical course distinguish each.
The recently described leukodystrophy is distinguished by a milder clinical course, absence of Rosenthal fibers on brain biopsy, and may involve consanguinous parentage.
www.bcm.edu /neurol/challeng/pat12/summary.html   (2036 words)

  
 Leukodystrophy
It is possible that the main title of the report Leukodystrophy is not the name you expected.
Leukodystrophies are a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves.
Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development of one of at least 10 different chemicals that make up the white matter (myelin sheath) of the brain.
www.peacehealth.org /kbase/nord/nord676.htm   (389 words)

  
 Metachromatic Leukodystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies.
Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the enzymes.
MLD is caused by a deficiency of the enzyme arylsulfatase A.
www.ninds.nih.gov /disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm   (478 words)

  
 United Leukodystrophy Foundation - You are Not Alone
United Leukodystrophy Foundation - You are Not Alone
Mission Statement: The United Leukodystrophy Foundation is dedicated to helping children and adults who have Leukodystrophy and assisting the family members, professionals and support services that serve them.
The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.
www.ulf.org   (83 words)

  
 Leukodystrophy, Metachromatic - Information and Resources - Health Encyclopedia   (Site not responding. Last check: 2007-11-05)
Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy).
It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen).
Metachromatic leukodystrophy is inherited as an autosomal recessive trait.
www.kaiserpermanente.org /kpweb/healthency.do?hwid=nord212   (487 words)

  
 Testimonial: Rottweiler - Leukodystrophy - Nerve Degeneration | NZYMES.COM SYS   (Site not responding. Last check: 2007-11-05)
After much ado my Gia was diagnosed with a rare neurological condition called Leukodystrophy a terminal disease that affects the myelin which controls the nerve impulses.
Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis.
The specialist suggested that I put Gia to sleep because very soon she would succumb to paralysis and not be able to move as this disease would rapidly destroy any myelin remaining for nerve conduction.
www.nzymes.com /Testimonials/gia_lee_leukodystrophy_rottweiler.htm   (646 words)

  
 Leucodistrofie/METACHROMATIC LEUKODYSTROPHY
Only one asterisk is assigned to the metachromatic leukodystrophies, adult and late infantile forms, because the enzymatic evidence indicates that these are allelic disorders.
Gieselmann, V. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
Gustavson, K.-H.; Hagberg, B. The incidence and genetics of metachromatic leukodystrophy in northern Sweden.
web.peacelink.it /appeal/gianmarco/vi.html   (6613 words)

  
 Hunter's Hope: What are Leukodystrophies?
Leukodystrophies are inherited, progressive disorders that affect the brain, spinal cord and peripheral nerves.
The myelin sheath, the main component of the white matter is extremely complex.
Various leukodystrophies are caused by a deficiency of one of these chemical substances.
www.huntershope.org /krabbe/other_leukos.asp   (390 words)

  
 Metachromatic Leukodystrophy - Health Centers
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, and other organs.
MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides accumulate in the nervous system, kidneys, gallbladder, and other organs.
Research is ongoing to study techniques to replace the lacking enzyme (arylsulfatase A).
www.wdsu.com /encyclopedia/6861675/detail.html   (653 words)

  
 Metachromatic leukodystrophy (Disease)... Fort Lauderdale, Florida
Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy.
The United Leukodystrophy Association can be reached at www.ulf.org or call 800-728-5483.
Metachromatic leukodystrophy is a severely debilitating progressive disease whose outcome is fatal.
www.browardhealth.org /17589.cfm   (506 words)

  
 Leukodystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis.
Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs.
The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.
www.ninds.nih.gov /disorders/leukodystrophy/leukodystrophy.htm   (415 words)

  
 Leukodystrophy, Krabbe's
It is possible that the main title of the report Leukodystrophy, Krabbe's is not the name you expected.
Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine.
Krabbe’s Leukodystrophy is inherited as an autosomal recessive trait.
www.everettclinic.com /kbase/nord/nord379.htm   (399 words)

  
 Metachromatic leukodystrophy
Early signs may be behavior problems, loss of mental functions, poor school or work performance, seizures, and loss of muscle control.
Metachromatic Leukodystrophy is caused by a mutation in the gene that makes arylsulfatase A. The disease is inherited as an autosomal recessive genetic disorder.
This means that an affected person inherits a copy of the defective gene from both parents.
www.umm.edu /ency/article/001205.htm   (445 words)

  
 Leukodystrophy Resources
This site is just starting up but shows great promise as a new Leukodystrophy community.
The best results have been obtained when the transplant of the cord blood takes place as early as possible in the course of the disease.
My son, Joey Johnson, has neonatal adreno leukodystrophy.
www.joejohnson.net /leukodystrophy_connections.htm   (599 words)

  
 About Krabbes Leukodystrophy   (Site not responding. Last check: 2007-11-05)
This means that both parents must carry the defective gene in order to pass the disease to their children.
Each of the leukodystrophies affects one (and only one) of these substances.
Krabbé disease is caused by a deficiency of
home.earthlink.net /~michaeltown/id14.html   (562 words)

  
 Metachromatic Leukodystrophy Education - MLD Foundation
Hunter's Hope - is focused on increasing the public awareness of Krabbe Disease and other Leukodystrophies, increasing the likelihood of early detection and treatment, and fund research efforts to identify new treatments, therapies, and a cure for Krabbe Disease.
Australian Leukodystrophy Support Group provides counseling, encouragement, support, resources, research and information leukodystrophy sufferers and their families.
Brianne's LEAP (Leukodystrophy Education and Awareness Project) of Hope - is dedicated to raising public awareness and funds for research into white matter diseases, otherwise known as the Leukodystrophies
www.mldfoundation.org /links-education.html   (337 words)

  
 Metachromatic Leukodystrophy: Diffusion MR Imaging Findings -- Sener 23 (8): 1424 -- American Journal of Neuroradiology
Metachromatic leukodystrophy is caused by a deficiency of arylsulfatase-A
A diagnosis of metachromatic leukodystrophy was confirmed by
Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy.
www.ajnr.org /cgi/content/full/23/8/1424   (1032 words)

  
 Metachromatic Leukodystrophy - WrongDiagnosis.com
Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain.
Metachromatic Leukodystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Metachromatic Leukodystrophy, or a subtype of Metachromatic Leukodystrophy, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /m/metachromatic_leukodystrophy/intro.htm   (787 words)

  
 Treatment of Metachromatic Leukodystrophy at Mayo Clinic
Metachromatic leukodystrophy (MLD) is a genetically inherited disorder, passed on from parents to their biological child, in which the brain and nervous system progressively deteriorate, the person loses brain and body functions and eventually dies.
Treatment programs are tailored to each individual and take into account the needs of the patient and family, while providing state-of-the-art care and access to new developments and appropriate clinical trials.
The genetic defect in metachromatic leukodystrophy is a deficiency of arylsulfatase A, an enzyme which breaks down a substance known as sulfatide.
www.mayoclinic.org /metachromatic-leukodystrophy   (332 words)

  
 NEJM -- Molecular basis of different forms of metachromatic leukodystrophy
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be distinguished according to severity and the age at onset: late infantile (1 to 2 years), juvenile (3 to 16), and adult (greater than 16).
To understand the molecular basis of the different forms of the disease, we analyzed arylsulfatase A alleles associated with metachromatic leukodystrophy.
Two alleles (termed I and A) were identified and accounted for about half of all arylsulfatase A alleles among 68 patients with metachromatic leukodystrophy whom we examined.
content.nejm.org /cgi/content/abstract/324/1/18   (526 words)

  
 Metachromatic Leukodystrophy of the Brain
•Very low power view of white matter in metachromatic leukodystrophy, showing many macrophages and granular collections of storage material as well as pallor of myelin.
•Metachromatic leukodystrophy is an inherited disease of myelin due to lack of arylsulphatase.
Clinically the patients behave normally up to a certain point and then develop psychological and neurological deficits after which they go progressively down hill and often die of intercurrent infections.
radiology.uchc.edu /eAtlas/CNS/1723.htm   (196 words)

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