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	Lafora disease - Wikipedia, the free encyclopedia
		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.
		Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination.
		Genetic studies have recently disclosed that a gene (named as EPM2A) encoding the protein laforin is strongly associated with the disease.
	en.wikipedia.org /wiki/Lafora_disease (230 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-11-06)
		Lafora disease (LD) is a rare genetic disorder that occurs in children or adolescents, resulting in progressive decline of mental function.
		Lafora disease is a genetic disorder with autosomal recessive inheritance, meaning that a child can only get the disease if both of his/her parents are carriers for the mutant gene.
		Lafora disease is diagnosed based on the results of a biopsy of an individual’s skin, liver, muscle, or brain.
	www.madisonsfoundation.org /content/3/1/display.asp?did=624 (1031 words)

	[No title]
		Summary: Lafora body disease is an autosomal recessive stimulus-sensitive progressive myoclonic epilepsy with onset in the late childhood or adolescence.
		Pathologically it is associated with neuronal inclusions (Lafora bodies) in the cerebral and cerebellar cortex and in brain stem nuclei.
		Although the storage material in Lafora disease is histochemically, ultrastructurally, and biochemically similar to polysaccharide that accumulates in branching enzyme activity (type IV glycogenosis), branching enzyme activity was normal in brain and muscle from one patient.
	moon.ouhsc.edu /kfung/JTY1/neurohelp/ZNF4IE01.htm (688 words)

	Research Scientists, BSBE, IIT Kanpur
		We are interested in determining the molecular mechanisms of inherited neurological disorders by identifying and characterizing disease genes using molecular genetics approaches.
		In fact, every gene, when mutated, is a potential disease gene, and we end up with the new concept of 'reverse medicine'; i.e., deriving new diseases or pathogenic pathways from the knowledge of the structure and function of every gene.
		Multi-generation families affected with neurological disease are to be used for whole genome screens to identify new susceptibility loci or candidate gene loci.
	www.iitk.ac.in /bsbe/faculty/ganesh (456 words)

	UCSD research reveals mechanism involved with type of fatal epilepsy
		Researchers at University of California, San Diego (UCSD) have found that Lafora disease, an inherited form of epilepsy that results in death by the age of 30, can be caused by mutations in a gene that regulates the concentration of the protein laforin.
		Lafora disease is characterized by normal development for the first decade of life, followed by an initial seizure in the second decade, progressively worsening seizures, early dementia, and death within 10 years of onset.
		A puzzling aspect of the disease is the accumulation of starch-/glycogen-like granules in most tissues of Lafora disease patients.
	www.eurekalert.org /pub_releases/2005-05/uoc--urr051805.php (355 words)

	Encyclopedia: Lafora disease
		A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease.
		Although seizure and myoclonus can be controlled for a long period by using antiepileptic drugs, patients are usually lost within one or two decades due to the devastating effects of dementia and ataxia.
		Diagnosis (from the Greek words dia = by and gnosis = knowledge) is the process of identifying a disease by its signs, symptoms and results of various diagnostic procedures.
	www.nationmaster.com /encyclopedia/Lafora-disease (605 words)

	Lafora disease (Site not responding. Last check: 2007-11-06)
		The patients develop the first symptoms mainly during adolescence and major problems are seizure, drop attacks, myoclonus[?], ataxia and most importantly a very quickly developing, progressive and severe dementia.
		Neither the origin of these inclusions nor the exact mechanisms how they cause the disease are known.
		The text of this article is licensed under the GFDL.
	www.ebroadcast.com.au /lookup/encyclopedia/la/Lafora_disease.html (203 words)

	Lafora Disease (Site not responding. Last check: 2007-11-06)
		Lafora disease is the most common teenage-onset progressive myoclonus epilepsy.
		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.
	webhome.idirect.com /~brainology/brainology/lafora.html (176 words)

	Gonzalo Rodriguez Lafora (www.whonamedit.com)
		Lafora led small teams that played essential roles in a psychological approximation movement towards performance and efficiency in industries.
		Lafora was particularly interested in child psychopathology and mental hygiene, and in 1917 he published the book “Mentally abnormal children”.
		Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
	www.whonamedit.com /doctor.cfm/2730.html (361 words)

	The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. (Site not responding. Last check: 2007-11-06)
		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.
		Histochemical and biochemical studies have indicated that Lafora bodies are composed mainly of polysaccharides.
		Lafora's disease (LD) is an autosomal recessive and fatal form of epilepsy with onset in late childhood or adolescence.
	www.pdg.cnb.uam.es /UniPub/iHOP/gp/10211607.html (228 words)

	Lafora's disease (www.whonamedit.com)
		A familial progressive autosomal recessive form of epilepsy beginning in childhood and characterized by convulsions, myoclonic jerking, abnormal EEG, resulting in difficulties in voluntary movement and mental deterioration leading to dementia.
		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.
	www.whonamedit.com /synd.cfm/3290.html (166 words)

	Gene Could Cause Rare, Fatal Epilepsy - Gastonia, North Carolina
		Lafora disease may have its roots in a specific mutation
		The result is an increase in laforin levels that may lead to Lafora disease, the researchers said.
		People with Lafora disease develop normally during the first 10 years of life.
	www.caromont.org /117285.cfm (291 words)

	Lafora's Disease (Fachübergreifende Gemeinschaftspraxis, Friedrichshafen)
		he inclusion bodies (Lafora bodies, polyglucosan bodies) are well seen in the excretoryducts of eccrine and apocrine sweat glands and peripheral nerves of clinically normal skin.
		Lafora disease (Unverricht's disease, myoclonic epilepsy) is a familial, degenerative disorder with the clinical triad of seizures, myoclonus and dementia.
		The enzyme defect is currently unknown, but the disease is usually regarded as an inborn error of carbohydrate metabolism.
	www.dermpath.de /lafora.htm (169 words)

	Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease -- Ponsford et al. 86 (10): 597 -- Journal ...
		Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease -- Ponsford et al.
		Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease
		Lafora body disease is a rare neurometabolic disorder of autosomal
	www.jrsm.org /cgi/content/abstract/86/10/597 (144 words)

	WhatsNew
		Because of the onset of the disease after 10 years of age, many of the families, not knowing what is brewing in their first child, have had further children, who witness the ordeal of their sibling, only to themselves then starting to succumb to the condition.
		We now know that this second Lafora's disease gene is the same gene causing the problem in the Miniature Wirehaired Dachshunds.
		Diagnosis is by identification of the Lafora bodies in a liver, muscle or nerve biopsy.
	myweb.tiscali.co.uk /sunsong/sda/lafora.htm (994 words)

	Clinical Trial: Ketogenic Diet in Lafora Disease
		This study will examine the effect of a restricted-carbohydrate diet (ketogenic diet) on Lafora disease-a severe neurological disease in which brain cells die because of abnormal accumulation of glucose (a type of sugar).
		Patients with Lafora disease have rapid neurological deterioration with myoclonus (brief muscle jerks), seizures and mental decline.
		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.
	clinicaltrials.gov /show/NCT00007124 (1023 words)

	A new case of late onset Lafora's disease without generalised seizures -- FERNANDEZ-BARREIRO et al. 66 (1): 114 -- ...
		Lafora's disease is clinically characterised by the triad of epilepsy, progressive dementia, and myoclonus as well as Lafora
		The onset of this autosomic recessive disease is usually between the ages of 6 and 20 with a duration of 2-10 years.
		In the literature about Lafora's disease, there have been few reported cases with late onset.
	jnnp.bmjjournals.com /cgi/content/full/66/1/114a (1129 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations
		Lafora disease and Unverricht-Lundborg disease are two forms of progressive myoclonus epilepsies (PME).
		Recently the gene for Unverricht-Lundborg disease (EPM1) was mapped to chromosome 21q22.3.
		This result suggests that differential diagnosis of Lafora disease and Unverricht-Lundborg disease may be facilitated by molecular genetic analysis.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=443801 (206 words)

	lafora body disease research talk (Site not responding. Last check: 2007-11-06)
		Welcome to this group about Lafora body disease which is rare and it is hard to get hold of any information on it.
		The aim of this group is for people to exchange inforamtion so please do exhange information and discuss anything related to lafora body disease.
		My twins almost 14 years old have just been diagnosed with Lafora.
	groups.msn.com /laforabodydiseaseresearchtalk (205 words)

	Lafora disease - Encyclopedia, History, Geography and Biography
		Lafora disease - Encyclopedia, History, Geography and Biography
		This page was last modified 07:22, 5 July 2005.
		This encyclopedia, history, geography and biography article about Lafora disease contains research on
	www.arikah.com /encyclopedia/Lafora_disease (240 words)

	From The Cover: Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the ...
		From The Cover: Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin -- Gentry et al.
		Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
		Lafora disease (LD) is a fatal form of progressive myoclonus
	www.pnas.org /cgi/content/abstract/102/24/8501 (402 words)

	Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus -- Chan et al. 63 (3): ...
		Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus -- Chan et al.
		Lafora disease (LD) is the most common teenage-onset progressive
		It is caused by recessive mutations in the
	www.neurology.org /cgi/content/abstract/63/3/565 (353 words)

	Lafora disease
		Lafora disease is an inborn error of carbohydrate metabolism with storage of a polyglucosan in various tissues including brain and liver.
		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.
	www.humpath.com /article.php3?id_article=1300 (182 words)

	A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen -- Wang et al. 277 (4): 2377 -- ...
		Lafora disease (OMIM 254780) is an autosomal recessive neurodegenerative disorder.
		The residues mutated in Laforin disease are shown as brown balls.
		histology of Lafora disease is an intraneuronal accumulation of
	www.jbc.org /cgi/content/full/277/4/2377 (3532 words)

	Lafora disease due to EPM2B mutations: A clinical and genetic study -- Gómez-Abad et al. 64 (6): 982 -- Neurology
		Lafora disease due to EPM2B mutations: A clinical and genetic study -- Gómez-Abad et al.
		of 25 patients, from 23 families, diagnosed with Lafora disease
		Conclusions: Genetic allelic heterogeneity is present in Lafora
	www.neurology.org /cgi/content/abstract/64/6/982 (300 words)

	The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a ... (Site not responding. Last check: 2007-11-06)
		Lafora disease is an autosomal recessive type of progressive
		Lafora disease (LD) is one of the severe types of progressive
		Minassian, B.A., Ianzano, L., Delgado-Escueta, A.V. and Scherer, S.W. (2000) Identification of new and common mutations in the EPM2A gene in Lafora's disease.
	hmg.oxfordjournals.org /cgi/content/full/12/18/2359 (5110 words)

	Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy -- Carpenter and Karpati 31 (12): 1564 -- Neurology
		Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy -- Carpenter and Karpati 31 (12): 1564 -- Neurology
		Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy
		From The Cover: Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
	www.neurology.org /cgi/content/abstract/31/12/1564 (228 words)

	Human protein: Q5THQ4 - Epilepsy, progressive myoclonus type 2, Lafora disease (Laforin). EMBL Bioinformatic Harvester
		The encoded protein may be involved in the regulation of glycogen metabolism.
		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.
		The Lafora progressive myoclonus epilepsy mutation and polymorphism database
	harvester.embl.de /harvester/Q5TH/Q5THQ4.htm (944 words)

	Lafora Disease (Site not responding. Last check: 2007-11-06)
		Lafora Body Disease; Lafora Body Disease, Late Onset; Lafora Progressive Myoclonic Epilepsy; Lafora Type Progressive Myoclonic Epilepsy; Lafora-Body Disease, Late Onset; Late Onset Lafora Body Disease; Progressive Myoclonic Epilepsy, Lafora
		A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition.
		Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
	medical.webends.com /kw/Lafora+Disease (142 words)

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