81. Davidson Laboratory The Biology of batten disease The Davidson laboratory studies inherited genetic One form of batten disease, a childhood onset neurodegerative disease, http://www.medicine.uiowa.edu/davidsonlab/research2.htm

Home Research Publications Beverly Davidson ... Batten Disease The Biology of Batten Disease The Davidson laboratory studies inherited genetic diseases that cause central nervous system dysfunction and gene therapy to the central nervous system. One form of Batten disease, a childhood onset neurodegerative disease, is due to a deficiency of a lysosomal protein, ceroid lipofuscinosis type III, or CLN3. References: 2. RE Haskell et al. Hum Mol Genet 9(5):735-744, 2000. 3. Q Mao et al. FEBS lett 541:40-46, 2003. 4. Q Mao et al. FEBS lett 555:351-357, 2003. Next topic

82. Science Blog -- Gene For Last Major Form Of Batten Disease Discovered From NIH/National Institute of Neurological Disorders and Stroke Gene For LastMajor Form Of batten disease Discovered http://www.scienceblog.com/community/older/1997/A/199700807.html

From: NIH/National Institute of Neurological Disorders and Stroke Gene For Last Major Form Of Batten Disease Discovered Just two 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 Science(1). 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.

83. Study Finds Autoimmune Link In Juvenile Batten Disease The finding provides a new clue about how batten disease may damage the nervoussystem and could Juvenile batten disease is a fatal, inherited childhood http://www.scienceblog.com/community/older/2002/E/20023936.html

May 2002 From NIH/National Institute of Neurological Disorders and Stroke Study finds autoimmune link in juvenile Batten disease 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. "The bottom line is that these children have an autoimmune response to a protein (GAD65) that is important for neurological function," says David A. Pearce, Ph.D., of the University of Rochester School of Medicine and Dentistry in New York, who led the study. The study was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS) and appears in the June 1, 2002, issue of Human Molecular Genetics.*

84. Batten Disease Eventually, children with batten disease become blind, bedridden, and demented.batten disease is often fatal by the late teens or twenties. http://www.clevelandclinic.org/health/health-info/docs/1200/1254.asp?index=6018&

85. Batten Disease Back Home Next. batten disease. Ask Noah About batten disease batten diseaseSupport seeAbility batten disease Support 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

86. Batten Disease - New Jersey batten disease New Jersey - courtesy of Somerset Medical of Somerville, New Jersey. 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:

87. Batten Disease - Patient UK UK sources of information and / or support; batten disease Family Association They have not been checked to see if batten disease is included but these http://www.patient.co.uk/showdoc/141/

Batten Disease UK sources of information and / or support Batten Disease Family Association The principal aim of the group is to provide contact and support to families affected by Batten disease. Families are kept informed about recent developments and research at a national and world-wide level. The BDFA hopes to raise awareness of the illness and hopefully in the future to be able to raise funds to facilitate further advances in understanding and perhaps one-day treating Batten disease. MISSION: to heighten public awareness of children suffering with Batten Disease. To fight to find a cure for the lives of young children. To fund research wherever possible. Further sources / More detailed information Some non-UK sites The following list popular non-UK health information sites, mainly from the US. They have not been checked to see if Batten Disease is included but these large sites are comprehensive. Non-UK disease / illness sites Non-UK self-help / support group sites Evidence Based Medicine For sites and information on Evidence Based Medicine.

88. Batten Disease Family Association - Patient UK batten disease Family Association Patient UK. A directory of UK health, disease,illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/26740353/

Batten Disease Family Association C/O Heather House Heather Drive Tadley Hampshire Web: www.bdfauk.freeserve.co.uk Best time to telephone: normal working hours The principal aim of the group is to provide contact and support to families affected by Batten disease. They intend to keep families informed about recent developments and research at a national and world-wide level. They hope to raise awareness of the illness and hopefully in the future to be able to raise funds to facilitate further advances in understanding and perhaps one-day treating Batten disease. Facilities the BDFA provides currently: Regular Newsletter. To raise awareness of the illness. To improve the services that the BDFA can offer. National networking and supporting work for families, including mentor referral an information / database about Batten disease and guidance regarding available services e.g. education, benefits, equipment. Web site. Checked: May 2005 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look...

89. NCL Resource What is batten disease Genetics Research Treatment Family Support.Researchers. Mutation Database Animal Models Mouse Models http://www.ucl.ac.uk/ncl/batten.shtml

NCL Resource Home Clinicians What are the NCLs? Diagnostic Approach ... Research Consortia What is Batten Disease? Batten disease is a group of related disorders which affects cells in the brain. This causes a progressing loss of physical and mental abilities that includes blindness and seizures. The disease usually begins in childhood, and can occur as early as 6 months or as late as the teenage years or even adulthood. Children stop progressing in their development and gradually lose the ability to walk, talk, sit and respond to surroundings. This deterioration occurs over many years. Eventually increasing physical weakness combined with a brain that can no longer work well are such that life can no longer be sustained. Batten disease is also called 'neuronal ceroid lipofuscinosis' because there is a build-up of material in cells that resembles substances called ceroid and lipofuscin in most cells, but it is the neuronal cells of the brain that are affected most and eventually die. This loss of cells is also referred to as neurodegeneration. Lipofuscin is also known as 'age pigment' because we all get this material accumulating in our brain cells as we get older and our cells do not work quite so efficiently. Children with Batten disease, however, accumulate massive amounts even at a young age. Batten disease is an inherited or genetic disease. It is caused by a change or 'mutation' in one of the 30 000 genes that are a blueprint for who we are. The mutated gene still acts as a template but produces a faulty rather than healthy protein. This means that whatever role the protein should play in our cells is no longer possible. In the case of Batten disease, this affects the disposal and recycling centres for our cells, the 'lysosomes'. When these cannot fully recycle unwanted products there is a build up of material - it is this material that accumulates.

90. Chad's Hope Home Page - Late Infantile Batten Disease Chad s Hope Late Infantile batten disease. Chad s hope was for a cure ofLate Infantile batten disease, and through the continuing efforts of the http://www.chadshope.com/

Click to Subscribe to the Chad's Hope Bulletin Board and Chat Group (Must Register with Yahoo) If You Already Have Yahoo Account Click Here Who is Chad? Chad Daniel Forsyth was a courageous 13 year old who had long fought the battle against “ Late Infantile Batten Disease ” which he was diagnosed with in 1995 at the age of 4. Chad served his life as an inspiration, touching the hearts of many, far and wide. Through his life, and now through his passing, he created an awareness of this disease and it's devastating progression. What is Chad's Hope? Chad's hope was for a cure of Late Infantile Batten Disease, and through the continuing efforts of the Chad's Hope Foundation, which is a group consisting of family and friends of Chad, and other organizations like it, his hope may one day be realized and suffering will come to an end. $20,000 From Chad's Hope

91. Batten Disease (batten disease; BattenMayou Syndrome; Batten-Spielmeyer-Vogt s Disease;Batten-Vogt Syndrome; Jansky-Bielschowsky; Kufs disease; Lipofuscinosis; http://www.icongrouponline.com/health/Batten_Disease.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Parent's Sourcebook on BATTEN DISEASE (Batten disease; Batten-Mayou Syndrome; Batten-Spielmeyer-Vogt's Disease; Batten-Vogt Syndrome; Jansky-Bielschowsky; Kufs' disease; Lipofuscinosis; Neuronal Ceroid Lipofuscinosis, Juvenile Type; Spielmeyer-Vogt; Spielmeyer-Vogt Disease; Spielmeyer-Vogt-Batten Syndrome; Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease; Stengel's Syndrome) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Batten Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Batten disease; Batten-Mayou Syndrome; Batten-Spielmeyer-Vogt's Disease; Batten-Vogt Syndrome; Jansky-Bielschowsky; Kufs' disease; Lipofuscinosis; Neuronal Ceroid Lipofuscinosis, Juvenile Type; Spielmeyer-Vogt; Spielmeyer-Vogt Disease; Spielmeyer-Vogt-Batten Syndrome; Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease; Stengel's Syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Batten Disease: Guidelines

92. Entrez PubMed batten disease, an inherited neurodegenerative storage disease affecting children,results from the autosomal recessive inheritance of mutations in Cln3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

93. Entrez PubMed Progress towards understanding the neurobiology of batten disease or neuronalceroid lipofuscinosis. Cooper JD. Pediatric Storage Disorders Laboratory, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

94. SupportPath.com: Batten Disease SupportPath.com leads you to Internet resources for supportrelated informationon hundreds of health, personal, and relationship topics. http://www.supportpath.com/sl_b/batten_disease.htm

Batten Disease Also called: Neuronal Ceroid Lipofuscinoses, Spielmeyer-Vogt-Sjogren-Batten Disease Other topics of interest on SupportPath.com: Rare Disorders Visual Impairment / Blindness About Us Add-A-Link ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... INTERNATIONAL Batten Disease Support and Research Association (BDSRA) Website: http://www.bdsra.org/ Description: Their mission is to "...be an international support and research networking organization for families of children and young adults with an inherited neurological degenerative disorder known as Batten Disease". Date Added: 08/10/2002 UNITED KINGDOM Batten Disease Family Association (BDFA) Website: http://www.bdfauk.freeserve.co.uk/

95. BDSRA batten disease was first described in 1826, more than 170 years ago, batten disease is the common name for a group of diseases known as neuronal ceroid http://www.ny-nj-bdsra.org/main/disease.htm

Home Our Chapter The Disease BDSRA ... Research The Disease Batten Disease was first described in 1826, more than 170 years ago, by a British pediatrician. Batten Disease is the common name for a group of diseases known as neuronal ceroid lipofuscinosis, and is one of the more common of the neurodegenerative diseases. It is also one of the diseases found in a group known as lysosomal storage disorders. At this time there is neither treatment nor cure. There are five major forms of Batten disease, defined by age of onset, pathology and gene identification. See chart Batten Disease is rarely diagnosed immediately and is often mistaken for epilepsy, mental retardation, retinitis pigmentosa, even schizophrenia in adults. An ophthalmologist can observe pathological changes in the retina. One of the first diagnostic clues. Onset is characterized by beginning vision loss, seizures, clumsiness, personality and behavior changes. Batten Disease causes continuing physical and mental deterioration leading to death. It is a recessive inherited disease meaning both parents must carry the same gene. A child must inherit a copy of the bad gene from both parents in order to be affected. A child that inherits a bad copy from just one parent will be a carrier

96. BDSRA : Metro NY/NJ Chapter Of Batten Disease Support And Research Association The batten disease Support and Research Association (BDSRA) is an internationalnonprofit organization created to provide information and support, http://www.ny-nj-bdsra.org/

Home Our Chapter The Disease BDSRA ... Research Welcome Children....How beautiful they are. God creates life and parents are to nurture that life. They are the hope of the future, unless sickness suddenly and unexpectedly comes upon these innocent lives and a parents nightmare becomes a reality. Neuronal Ceroid Lipofuscinosis (NCL) , also known as Batten Disease , is an incurable neurological disorder which is degenerative and ultimately fatal. Children diagnosed with this illness are apparently “healthy and normal”, until the symptoms start to set in. Click Here to View the "Stalking a Predator Article" National Web Site:

97. Penn State Faculty Research Expertise Database (FRED) batten disease, CeroidLipofuscinosis, Neuronal. Jansky-Bielschowsky Disease,Kufs Disease Batten Spielmeyer Vogt Disease, Batten-Mayou Diseases http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009472

98. NIH Press Release - Gene For Last Major Form Of Batten Disease Discovered - 09/1 Dr. Pullarkat has studied batten disease for nearly 20 years and Late infantilebatten disease, also called JanskyBielchowsky disease or late infantile http://www.nih.gov/news/pr/sept97/ninds-18.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Neurological Disorders and Stroke National Institute of Diabetes and Digestive and Kidney Diseases EMBARGOED FOR RELEASE Thursday, September 18, 1997 4:00 PM Eastern Time Natalie Larsen, NINDS Jane DeMouy, NIDDK Gene for Last Major Form of Batten Disease Discovered Just two 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 Science . 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.

99. Jeans For Genes batten disease is a group of related neurometabolic diseases affecting childrenand young Advance public understanding and awareness of batten disease http://www.jeansforgenes.com/2_about/2084_aboutbdfa.php

What is Jeans for Genes? About the Charities Why Support Us Personal Stories ... Site Map Batten Disease Family Association (BDFA) What is Batten disease? Batten disease is a group of related neurometabolic diseases affecting children and young adults. The disease occurs in about one in 30,000 births and leads to a progressive deterioration of the brain and nervous system. At present, there is no cure or treatment that has any significant impact on the unstoppable decline in bodily functions. Symptoms may vary, but include sizures, dementia, blindness, loss of motor abilities and muscle coordiantion, and mental deterioration. Many affected die in childhood. Sadly Misha died of Batten disease in November 2002 Read Louise's story Visit www.bdfauk.freeserve.co.uk

100. Infantile Batten Disease batten disease is an autosomal recessive disorder. Which means Generally theonset of Infantile batten disease occurs between http://www.angelfire.com/va2/BattenAngel/infantile.html

Infantile Batten Disease (INFANTILE NEURONAL CEROID LIPOFUSCINOSIS) Batten Disease is an autosomal recessive disorder. Which means the child receives two copies of the defective gene. One from Mom and one from Dad.Each child has a one in four chance (25%) of having Batten Disease. If the child only receives one copy of the defective gene the child will be a carrier and not develop the disease. There are three other main types of Batten Disease. These are: Late-Infantile, Juvenile and Adult. There are variants off the four types of Batten Disease. Generally the onset of Infantile Batten Disease occurs between the ages of 6 months and 2 years. Symptoms include but are not limited to loss of acquired skills,muscle weakness,seizures,spasms, lack of stimuli (sounds,pain etc.) and visual impairment. Some examples are the sudden inability to use their leg(s) and/or arm(s), inability to chew and swallow solid foods, excessive crying fits. Basically overnight losing the ability to walk, eat, talk, hold things in their hands etc. The symptoms may occur slowly over many months or occur one after another very rapidly.

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