41. Batten's Disease (juvenile Form) Factsheet Batten’s disease (juvenile form). The batten disease Family Association ( BDFA) can provide information, support and contact (if wanted) with other families. http://www.ich.ucl.ac.uk/factsheets/diseases_conditions/battens_disease_juvenile

Please use the indexes below to find the factsheet you need. Or search the full alphabetical index: Top Top Top Top ... Top (juvenile form) Contents Introduction How is it diagnosed? Does it have any alternative name? Is it inherited? ... Support Group Introduction How is it diagnosed? Diagnosis is now usually made by examining a piece of skin, under a microscope, or by gene tests on blood. Does it have any alternative name? Is it inherited? Is prenatal testing available? How common is it? It is estimated that the incidence in the UK is approximately one in every 150,000 people. How does the disease progress? Your child is likely to start to show some signs of clumsiness, difficulty with school-work and deteriorating vision between the ages of five to nine years. Within a few years, vision is completely lost and, for some time, this may be the only obvious problem. Over time, however, understanding and concentration become increasingly difficult and your child may also become unsteady and somewhat shaky. Epileptic seizures usually start at around ten years and, also at this age, behaviour can be erratic and challenging. This is due both to the disease process, and frustration and confusion with what is happening. The course of the disease can vary quite considerably and your child may seem quite stable for long periods but gradually, throughout the teenage years, physical and mental skills are lost until he or she is unaware of his or her surroundings and need total care.

42. Study Finds Autoimmune Link In Juvenile Batten Disease - StopGettingSick News Study Finds Autoimmune Link in Juvenile batten disease. The study also found signs of this reaction in children with batten disease. http://www.stopgettingsick.com/templates/news_template.cfm/5690

Beta Glucan,beta 1,3/1,6 glucan,beta 1,3 glucan,Beta 1,6 Glucan,immune system/a> Guest search My Health Focus Immunity Alternative and Complementary Therapies Diseases and Conditions ... Healing Stories Forums General Health Home Remedies The Water Cooler Feedback ... My Profile Last updated 06/01/04 12:07 PST Study Finds Autoimmune Link in Juvenile Batten Disease May 24, 2002 For years, researchers have tried to determine how the defective gene in juvenile Batten disease leads to the seizures, mental impairment, and other symptoms of this devastating childhood disorder. A new study shows that mice lacking the gene that is altered, or mutated, in this disorder have an immune reaction that disables an important enzyme in the brain. The study also found signs of this reaction in children with Batten disease. The finding provides a new clue about how Batten disease may damage the nervous system and could lead to treatments for the disorder. The study is the first to find evidence that the immune system plays a role in Batten disease. The immune attack inactivates an enzyme called glutamic acid decarboxylase 65 (GAD65) that normally converts one neurotransmitter called glutamate into another, called gamma-aminobutyric acid or GABA. The loss of the enzyme's activity leads to an excess of glutamate in the brain.

43. Batten Disease batten disease. batten disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord259

44. AllRefer Health - Neuronal Ceroid Lipofuscinoses (NCLS) (Batten Disease, Jansky- Neuronal Ceroid Lipofuscinoses (NCLS) (batten disease, JanskyBielschowsky, Kufs Disease, Lipofuscinoses, Spielmeyer-Vogt) information center covers causes http://health.allrefer.com/health/lipofuscinosis-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Neuronal Ceroid Lipofuscinoses (NCLS) Neuronal Ceroid Lipofuscinoses (NCLS) Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Batten Disease, Jansky-Bielschowsky, Kufs' Disease, Lipofuscinoses, Spielmeyer-Vogt Definition The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders. They associated with the accumulation of an abnormal pigment in the brain called lipofuscin. These disorders can be associated with severe diseases including blindness, mental retardation, and early death. There are three main types, depending on the age it begins late infantile (Jansky-Bielschowsky), juvenile (Batten disease), and adult (Kufs or Parry's disease).

45. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for batten disease ALLFIELDS are shown below. Include trials that are no longer recruiting patients. 1 study was found. http://www.clinicaltrials.gov/search/term=Batten Disease

Home Search Browse Resources ... About Search results for Batten Disease [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. Recruiting Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Condition: Infantile Neronal Ceroid Lipofuscinosis U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

46. What Is Batten Disease? From The Natey Foundation What is batten disease? The medical terms Having a child with batten disease has changed every aspect of our lives. Since that day http://www.nateyfoundation.org/disease.html

What is Batten Disease? The medical terms that now flow freely from our mouths would have been lost on us two years ago. Having a child with Batten Disease has changed every aspect of our lives. Since that day in October 1996 we have learned much about Batten Disease. First the statistics: Batten disease is a autosomal recessive disease. 1 in 100,000 people carry one type of the recessive genes for Batten Disease. There are four types of the disease. Both Parents must carry the same type of gene in order for their children to be affected. Only one in four children born from parents, both with the same type of gene will be affected Our son Natey was our first child together. Basically, it is as if there were 800,000 people in one room. Only two carry the gene for late infantile Batten Disease. They meet, marry, and their first child together is affected. Comprehending and accepting that this actually happened is difficult, in and of itself. There are four types of the disease. Infantile - Onset age: 6 months - 2 years. Children with infantile form generally live to age 5-10. Late Infantile- Onset age: 2-4 years. Children with late infantile form live to age 8-12.

47. Batten Disease,Batten-Mayou Syndrome,Batten-Spielmeyer-Vogt's Disease,Batten-Vog batten disease,BattenMayou Syndrome,Batten-Spielmeyer-Vogt s Disease,Batten-Vogt Syndrome,Neuronal Ceroid Lipofuscinosis Juvenile Type,Spielmeyer-Vogt Disease http://www.icomm.ca/geneinfo/batten.htm

Batten Disease,Batten-Mayou Syndrome,Batten-Spielmeyer-Vogt's Disease,Batten-Vogt Syndrome,Neuronal Ceroid Lipofuscinosis Juvenile Type,Spielmeyer-Vogt Disease,Spielmeyer-Vogt-Batten Syndrome,Stengel's Syndrome,Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Batten Disease also known as: NCL Batten-Mayou Syndrome Batten-Spielmeyer-Vogt's Disease Batten-Vogt Syndrome Neuronal Ceroid Lipofuscinosis Juvenile Type Spielmeyer-Vogt Disease Spielmeyer-Vogt-Batten Syndrome Stengel's Syndrome Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease Spielmeyer-Vogt-Sjogren-Batten (as defined by the National Organization for Rare Disorders Batten Disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). It is characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells. This lipopigment storage disorder is inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age.

48. Batten Disease Z . Back Home Next. batten disease. Ask Noah About batten disease. batten disease Support. seeAbility batten disease Support. Copyright http://www.ability.org.uk/Batten_Disease.html

Our Aims Services Stats ... Z Batten Disease Ask Noah About Batten Disease Batten Disease Support seeAbility Batten Disease Support Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

49. SPRIDA - Batten Disease, Psykiatri Och Habilitering SPRIDA batten disease. Skriv ut sidan. ICEVI 2002 eng. STRUCTURE), a communication software for young people with batten disease. SPRIDA http://www.orebroll.se/psykhab/page____7141.asp

Snabbval landstinget - ADB och Tele - Folktandvården - Habilitering - Karlskoga lasarett - Landstingshälsan - Landstingsservice - Lindesbergs lasarett - Medicinsk Teknik - Primärvården - Psykiatri - Regionutveckling - Universitetssjukhuset - Örebro läns landsting Ändra skärmutseende Standard Förstora +2 Förstora +3 Kontrast Förstora +2 Kontrast Förstora +3 orebroll.se > Psykiatri och habilitering > Habiliteringen i länet > Vård och behandling > Centrum för hjälpmedel Start Psykiatrin i länet Habiliteringen i länet Kurskatalog 2004 ... Webbkarta Centrum för hjälpmedel Start Kontakta oss SPRIDA - Taltjänst Hjälpmedel Om oss Kvalitetsutv... SPRIDA - Batten disease ICEVI 2002 Development of software for multi-handicapped individuals Seminar handouts (Powerpoint presentation) Development of software for multi-handicapped individuals Speech, handouts STRUKTUR english manual STRUKTUR (eng. STRUCTURE), a communication software for young people with Batten disease. SPRIDA has developed a program for communication, named STRUKTUR, to be used at home and in school. The program has a simpel commando-structure that hopefully will work at the end of the disease and at that time together with a portable computer with the same adaptions as in school. STRUKTUR uses a portabel computer IBM Thinkpad ® with built-in Soundblastercompatible sound. The sound will be used for synthetic speech but also for digitalized sound examples. The device will be maneuvred by five switches.

50. Gene For Last Major Form Of Batten Disease Discovered Just four years ago, the origins of the fatal childhood neurological disorders called batten disease were shrouded in mystery, and there were few prospects for http://www.bsrt.org.uk/last_major_dis.htm

Natalie Larsen, NINDS (301) 496-5751 Jane DeMouy, NIDDK (301) 435-8115 Just four years ago, the origins of the fatal childhood neurological disorders called Batten disease were shrouded in mystery, and there were few prospects for effective treatment. Now, for the first time, researchers can describe the genetic underpinnings of all major childhood forms of the disease. The discovery of the gene and protein responsible for most cases of late infantile Batten disease is reported in the September 19, 1997, issue of Science1. The finding allows the first reliable diagnosis and carrier testing for the disease and is the first step toward developing an effective treatment. Ultimately, the finding also may yield new insights into the aging process. The work was supported in part by the National Institute of Diabetes and Digestive and Kidney Disorders (NIDDK) and the National Institute of Neurological Disorders and Stroke (NINDS). A research team led by Peter Lobel, Ph.D., and David E. Sleat, Ph.D., of the Center for Advanced Biotechnology and Medicine in Piscataway, New Jersey, located the gene using a newly developed biochemical approach to identify the enzyme missing in the disease. The center is a joint program of the University of Medicine and Dentistry of New Jersey (UMDNJ) and Rutgers University. The scientists then compared this enzyme to known proteins and gene segments that are described in databases available through the National Center for Biotechnology Information at the National Library of Medicine. This allowed them to determine the enzyme’s probable function.

51. Learn From Mice With Batten Disease After arriving in California, I was introduced to Batten s Disease through meeting with the Aurelio family from San Jose and learnt of the profound impact of http://www.bsrt.org.uk/what_can_we_learn.htm

Dr. Jonathan D. Cooper, Department of Neuropathology, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF. E-mail j.cooper@iop.kcl.ac.uk The neuronal ceroid lipofuscinoses (NCLs) all involve the build-up of debris within small compartments, or lysosomes, within each cell where such debris would normally be degraded. To date, very little is known about what role this accumulation of debris has in causing these diseases and their characteristic symptoms. One way to find out more about these disease mechanisms and to work towards devising effective therapies for the disease is to study mice, which have defects in the genes that cause the NCLs. Similar studies in other diseases in which lysosomes do not function properly have provided many clues for ways to treat storage diseases. As such new therapeutic opportunities are devised, it will be essential to have a detailed understanding of which parts of the brain are affected in the NCLs and precisely how disease has changed the structure of brain cells and their ability to work properly. I have already examined the brains of mice modeling juvenile NCL and two different late infantile variant forms of NCL. All three mice show progressive degenerative changes in the same subpopulations of particular brain cells, or interneurons, that normally play an important role in damping down brain activity. We have determined that in all three models progressively fewer of these interneurons can be found and that those remaining detectable interneurons are dramatically larger than normal. There is evidence in one of these mouse models, that these structural changes are reflected in altered ability of these interneurons to control brain activity appropriately. This altered ability may have significant implications for the generation of episodes of uncontrollable brain activity or seizures, which are characteristically described in the NCLs.

52. Chad's Hope - About Late Infantile Batten Disease What is Late Infantile batten disease? (AKA JanskyBielschowsky Disease). Named after the British pediatrician who discovered the http://www.chadshope.com/about_batten.html

What is Late Infantile Batten Disease? (AKA: Jansky-Bielschowsky Disease) Late infantile Batten Disease * (Jansky-Bielschowsky Disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs treatment. Of the four forms of this disease, this form progresses more rapidly and results in death between ages 8 and 12. Chad passed away not more than a month after celebrating his 13th birthday. *AKA Late Infantile NCL (Neuronal Ceroid Lipofuscinoses). For more information on Batten Disease visit the Click Here to Subscribe to the "Chad's Hope Bulletin Board and Chat Group" (Must register with Yahoo.ca) Home About Batten The Research Fundraising ... Contact Information

53. Chad's Hope - The Research - Late Infantile Batten Disease Late Infantile batten disease is caused by an abnormal buildup of substances in the nerve cells throughout the brain and body, which prevents them from http://www.chadshope.com/the_research.html

The Ongoing Research Efforts What researchers know about Late Infantile NCL is that it is a rare disease that is inherited. It is an autosomal recessive disorder, which means that both parents are carriers of the disease (they carry the defective gene). "Most people carry different faulty genes but in Batten's (and other recessive conditions) parents, though healthy themselves, carry the same faulty genes, and risk passing them on to their children" (Institute of Child Health, 2004). The disease affects nerve cells in the brain and other parts of the body, causing a progressive loss of physical and mental skills. Late Infantile Batten Disease is caused by an abnormal build-up of substances in the nerve cells throughout the brain and body, which prevents them from working properly. These substances are normally broken down and removed from the body by an enzyme, however, in Batten Disease, the gene responsible for producing the enzyme is faulty, so the normal process cannot occur. As the brain is the control centre of the whole body, blockages in the messages to other parts of the body will prevent those parts working efficiently, even though the parts themselves seem quite healthy (Institute of Child Health, 2004). Batten Research That's Important to the Children Researchers today are rapidly discovering, and understanding, how genes work. A team of dedicated researchers in New York City has recently completed gene replacement therapy research in primates and are set to begin phase I clinical trials on humans. This pioneering research has been privately funded through Nathan's Battle Foundation in the U.S, along with other supporting families worldwide.

54. Institute Of Psychiatry: Batten Disease Centre for the Cellular Basis of Behaviour / Neuroscience / batten disease. Every cell within the body contains ‘lysosomes’, small http://www.iop.kcl.ac.uk/iopweb/departments/home/default.aspx?locator=382

55. Institute Of Psychiatry: New Mouse Models Of Batten Disease, A Childhood Neurode Centre for the Cellular Basis of Behaviour / batten disease / Neuroscience / batten disease / New mouse models of batten disease, a childhood neurodegenerative http://www.iop.kcl.ac.uk/iopweb/departments/home/default.aspx?locator=633

56. Brain Foundation - Batten Disease batten disease. Neuronal Ceroid Lipofuscinoses (or NCLs). batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. http://www.brainaustralia.org.au/AZ_of_Brain_Disorders/batten_disease

Home About Us The Brain Healthy Brain ... Site Map DHTML_MENU_rel_path = '/squizlib/dhtml_menu/images/'; Batten Disease [Neuronal Ceroid Lipofuscinoses (or NCLs)] Description Batten Disease is a fatal, inherited disorder of the nervous system that begins in childhood. It is named after the British pediatrician who first described it in1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs). Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to describe all forms of NCL. The basic cause, progression, and the outcome are the same. The forms of NCL are classified by age of onset, and eight different genes [CLN1 – CLN8] have been identified as causing the disorder. The first sign of the disease is often loss of vision, and may first be suspected during an eye examination. Other early signs are subtle, but may include personality and behaviour changes, slow learning, clumsiness or stumbling. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Juvenile Batten Disease become blind, bedridden, and unable to communicate. Juvenile Batten Disease is always fatal by the late teens or twenties. There are four main types of NCL/Batten Disease, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but they become apparent at different ages and progress at different rates.

57. Connors Battle With JNCL (Batten Disease) Connors Battle with JNCL (batten disease) chronicles the struggles of a young boy suffering a rare, fatal, genetic disease called batten disease. http://www.connorsbattle.com/home.htm

Help us and other victims to Find a Cure! Connors Wish This is the day... we all got to forget I was sick. Special thanks from the Allbee Family to and Michael Hohl RV Center for making Connors wish come true. This is Connor Allbee. A normal happy 7 year old boy, except for one thing. Connor has just been diagnosed with JNCL* or Juvenile Batten Disease. Batten disease is a brutal, debilitating disease that cripples and tortures it's young victims before it kills them Connor has the following in his future: Currently he is almost totally blind Soon he will start having seizures Dementia will set in Paralysis and loss of normal functions Feeding tubes Death *Juvenile Neuronal Ceroid Lipofuscinosis A Little About Connor Connor was born Sept. 13, 1994. Connor was the third of three children, and the only boy born to Derek and Christy Allbee Connor was born and lives in Reno, Nevada Connor loves to go camping and fishing with his family. Connor has a sister Kelsey 14, and another sister Katie, 12, who love him very much.

58. About Batten What is batten disease? batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Early symptoms http://www.connorsbattle.com/about.htm

What is Batten Disease? Is there any treatment? As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible. What is the prognosis? Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is always fatal. Often by the late teens or twenties. What research is being done? The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified

59. Batten Disease batten disease. Definition. batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). http://www.somersetmedicalcenter.com/1225.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Batten Disease (Neuronal Ceroid Lipofuscinosis) by Rick Alan Definition Causes Risk Factors ... Organizations Definition Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a buildup of lipopigments in the body’s tissue. Batten disease refers to the juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. The forms of NCL include: Infantile NCL Late infantile NCL Juvenile NCL Adult NCL Causes Batten disease is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disease results in a buildup of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues. Researchers have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this buildup of lipopigments. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. Since Batten disease is an inherited condition, people at risk include:

60. Health Library - batten disease. batten disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

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