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| | Lafora Disease |
 | | Lafora's bodies are concentric amyloid (mucopolysaccharide) bodies, and are present in the brain (in neurons), and also sometimes in the retina, heart, liver, muscle, bone, and skin. | | | Unverricht's disease is similar, but without Lafora's bodies on pathological study. | | | Most affected individuals do not live past the age of 25 (average survival is 6 years). |
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http://webhome.idirect.com/~brainology/brainology/lafora.html
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| | Rare Pediatric Disease Database |
| | The assistance of a genetics counselor is also helpful for families who wish to have additional children (since the disease is inherited). | | | This website contains some basic, understandable information about Lafora disease, as well as several helpful links and the citations for a few medical journal articles about LD (though these will probably be less helpful than other more basic resources). | | | Even when both parents are carriers, however, a child only has a 25% chance of getting the disease. |
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http://www.madisonsfoundation.org/content/3/1/display.asp?did=624
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| | WhatsNew |
| | Fortunately, the disease in the dogs is much less severe than its human counterpart. | | | Finally, do remember that the disease is much milder in the dogs. | | | Unfortunately there is not a completely effective treatment, however many are improved on anti-epileptic drugs. |
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http://myweb.tiscali.co.uk/sunsong/sda/lafora.htm
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| | [No title] |
| | Lafora bodies: Lafora bodies variesin size from 1 to 30 micron in diameter and one or more Lafora bodies may be present in the cytoplasm. | | | Only occasional inclusions are found in the spinal cord. | | | Pathologically it is associated with neuronal inclusions (Lafora bodies) in the cerebral and cerebellar cortex and in brain stem nuclei. |
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http://moon.ouhsc.edu/kfung/JTY1/neurohelp/ZNF4IE01.htm
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| | CBC News: Dog epilepsy gene discovered |
| | To find treatments for human disease, researchers need to first test potential therapies in animal models. | | | This form of epilepsy is more severe in humans than dogs. | | | FROM MAY 20, 2004: Canine family tree reflects human hand |
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http://www.cbc.ca/story/science/national/2005/01/07/epilepsy-dogs050107.html
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| | lafora body disease research talk |
| | Welcome to this group about Lafora body disease which is rare and it is hard to get hold of any information on it. | | | Typically a muscle biopsy can determine for sure whether or not your child has Lafora. | | | The aim of this group is for people to exchange inforamtion so please do exhange information and discuss anything related to lafora body disease. |
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http://groups.msn.com/laforabodydiseaseresearchtalk
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| | UCSD research reveals mechanism involved with type of fatal epilepsy |
| | Dixon and colleagues are currently designing experiments to test these models with the hope of gaining the necessary insights to develop potential therapies for Lafora disease. | | | A puzzling aspect of the disease is the accumulation of starch-/glycogen-like granules in most tissues of Lafora disease patients. | | | Medications can ease the severity of initial symptoms, but there is no long-term treatment or cure for the disease. |
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http://www.eurekalert.org/pub_releases/2005-05/uoc--urr051805.php
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| | Research Scientists, BSBE, IIT Kanpur |
| | Currently, our major focus is on Lafora disease, an autosomal recessive and invariably fatal form of familial progressive myoclonus epilepsy. | | | The major impact of the completion of the human genome sequence will be the understanding of diseases, with deduced therapy. | | | These studies should elucidate the molecular pathophysiology of Lafora disease, and provide insight into therapeutic targets for the attenuation of disease severity. |
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http://www.iitk.ac.in/bsbe/faculty/ganesh
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| | Lafora's disease (www.whonamedit.com) |
| | Progressive familial myoclonic epilepsy, progressive myoclonus epilepsy with Lafora bodies. | | | Lafora’s bodies are present in the nervous system, and sometimes in the retina, heart, muscle, and liver. | | | Inheritance is autosomal recessive.It is a clinico-pathologic form of Unverricht’s disease. |
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http://www.whonamedit.com/synd.cfm/3290.html
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| | Clinical Trial: Ketogenic Diet in Lafora Disease |
| | During this time the patient or caregiver is trained in preparing the ketogenic diet, and then the patient is discharged to home. | | | The objective of this study is to evaluate the acute effect and potential disease modifying effects of a restrictive minimum carbohydrate diet (ketogenic diet) in patients with Lafora Disease. | | | At present there is no treatment to halt disease progression. |
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http://clinicaltrials.gov/show/NCT00007124
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| | Lafora Disease - Epilepsy, Progressive Myoclonic, Lafora - information page with HONselect |
| | Most affected individuals do not live past the age of 25 years. | | | Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110) | | | Synonym(s): Epilepsy, Progressive Myoclonic, Lafora / Progressive Myoclonic Epilepsy, Lafora Type / Lafora Body Disease / Lafora Body Disease, Late Onset / |
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http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.140.490.250.650.500.html
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| | Lafora disease - Wikipedia, the free encyclopedia |
| | Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination. | | | Lafora disease is a hereditary disease characterised by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle, and skin. | | | The patients develop the first symptoms mainly during adolescence. |
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http://www.wikipedia.org/wiki/Lafora_disease
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| | Gene Could Cause Rare, Fatal Epilepsy |
| | While medications can reduce the severity of initial symptoms, there is no long-term treatment or cure for Lafora disease. | | | These models may help in the development of potential treatments for Lafora disease. | | | The result is an increase in laforin levels that may lead to Lafora disease, the researchers said. |
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http://www.healthatoz.com/healthatoz/Atoz/news/hs525890.jsp
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| | Gonzalo Rodriguez Lafora (www.whonamedit.com) |
| | Lafora's disease: towards a clinical, pathologic, and molecular synthesis. | | | Lafora was particularly interested in child psychopathology and mental hygiene, and in 1917 he published the book “Mentally abnormal children”. | | | [Lafora disease and the two first cases of Alzheimer's disease published in Spain]. |
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http://www.whonamedit.com/doctor.cfm/2730.html
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| | Lafora disease |
| | Lafora disease is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. | | | Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. | | | Lafora disease is an inborn error of carbohydrate metabolism with storage of a polyglucosan in various tissues including brain and liver. |
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http://www.humpath.com/article.php3?id_article=1300
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| | Lafora's disease - definition of Lafora's disease by the Free Online Dictionary, Thesaurus and Encyclopedia. |
| | Lafora's disease - epilepsy characterized by clonus of muscle groups and progressive mental deterioration and genetic origin | | | This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. | | | Lafora's disease - definition of Lafora's disease by the Free Online Dictionary, Thesaurus and Encyclopedia. |
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http://www.thefreedictionary.com/Lafora's+disease
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| | The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. |
| | Histochemical and biochemical studies have indicated that Lafora bodies are composed mainly of polysaccharides. | | | The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.Lafora bodies are present primarily in neurons, but they have also been found in other organs. | | | The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. |
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http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/10211607.html
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| | lafora body disease research talk |
| | This is a group about lafora body disease also known as lafora disease. | | | It was set up to discuss medical research but over time it has turned into a general discussion and support group for lafora. | | | Anybody with a interest may join this group and discuss issues of interest to them. |
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http://groups.msn.com/laforabodydiseaseresearchtalk/settings
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| | anybody out there with Lafora Body disease - BrainTalk Communities |
| | I have seen this disorder discussed here more often as Unverricht-Lundborg disease. | | | From what I understand, Lafora Body Disease is a storage disease and can present in two different forms - Unverricht (classic) type and Lundborg type. | | | This work is licensed under a Creative Commons License. |
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http://brain.hastypastry.net/forums/showthread.php?p=347884
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| | Human protein: Q5THQ5 - Epilepsy, progressive myoclonus type 2, Lafora disease (Laforin) (Fragment). EMBL Bioinformatic ... |
| | at the cellular level, ld is characterized by accumulation of starch-like polyglucosans called lafora bodies (lbs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. | | | Mutations in this gene have been associated with myoclonic epilepsy of Lafora. | | | defects in epm2a are a cause of lafora disease (ld) [mim:254780]; also known as myoclonic epilepsy of lafora (melf) or epilepsy progressive myoclonic 2 (epm2). |
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http://harvester.embl.de/harvester/Q5TH/Q5THQ5.htm
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| | Home Page - MSN Health & Fitness |
| | > Plus: Standard Tests Miss Heart Disease in Some Women | | | In just three weeks, simple lifestyle improvements like diet and fitness can have a big impact. |
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http://Health.MSN.com
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| | HONselect - Lafora Disease |
| | List of rare diseases: English - Français - Deutsch - Español - Português |
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http://www.hon.ch/HONselect/RareDiseases/C10.228.140.490.250.650.500.html
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