61. Batten Disease - St. Joseph Mercy, Ann Arbor Michigan batten disease St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/12658.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Batten Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Batten Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms 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 Disorder Subdivisions None General Discussion 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. Occurring mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions. Resources CLIMB (Children Living with Inherited Metabolic Diseases)

62. Family Takes Up Cause Of Batten Disease Both parents are carriers of the gene for batten disease, Zach had lateinfantile batten disease, a rare and fatal genetic disorder whose victims http://www.post-gazette.com/healthscience/20020910hbatten0910p4.asp

Pittsburgh, PA Thursday September 8, 2005 News Sports Lifestyle Classifieds ... About Us Take me to... Search Local News Nation/World Sports Obituaries Lifestyle Business Opinion Photo Journal Weather Classifieds PG Store PG Delivery Web Extras Contact Us About Us Help Corrections Site Map Previous Articles Health Science Environment ... Home Family takes up cause of Batten disease Tuesday, September 10, 2002 By Deborah Weisberg Up until two years ago, Zach Balog, now 6, was a robust child never bothered by so much as an ear infection. Susan Balog with Joshua, 4, and Steve Balog with Zachery, who's 6. Both parents are carriers of the gene for Batten disease, but only Zachery has developed it. (Matt Freed, Post-Gazette) "He was slightly behind in his speech," said his father Steve Balog, 36, of Cranberry. "But he was off the charts in height and weight, so his not being able to string words together was no cause for alarm." Then the seizures started, and unexpected trips and falls. A month after he was put on anti-seizure medication, Zach had trouble walking alone. As his balance and coordination deteriorated, so did his ability to speak and to see. He was shuttled from one doctor to another, each of whom ordered more tests. The mystery only deepened until a neuro-ophthalmologist found the decisive clue: a bulls-eye shaped dot on the retina of both eyes an indication of retinal deterioration. Zach had late infantile Batten disease, a rare and fatal genetic disorder whose victims just 500 worldwide can expect to live about 10 years.

63. A Clinical Rating Scale For Batten Disease: Reliable And Relevant For Clinical T Background batten disease (juvenile neuronal ceroid lipofuscinosis MethodsA clinical rating instrument, the Unified batten disease Rating Scale http://www.neurology.org/cgi/content/abstract/65/2/275

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Marshall, F. J. Articles by Pearce, D. A. Related Collections Metabolic disease (inherited) Lipidoses Clinical trials Methodology/study design NEUROLOGY 2005;65:275-279 American Academy of Neurology A clinical rating scale for Batten disease Reliable and relevant for clinical trials F. J. Marshall, MD E. A. de Blieck, MPA J. W. Mink, MD, PhD, FAAN L. Dure, MD H. Adams, PhD S. Messing, MA, MS P. G. Rothberg, PhD E. Levy, BA T. McDonough, BA J. DeYoung, MD M. Wang, BA D. Ramirez-Montealegre, MD J. M. Kwon, MD and D. A. Pearce, PhD Address correspondence and reprint requests to Dr Marshall, Clinical Trials Coordination Center, Department of Neurology, University of Rochester School of Medicine and Dentistry, 1351 Mt. Hope Ave., Suite 223, Rochester, NY 14620; e-mail: Background: Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and relentless decline

64. Neurology -- Sign In Page The pathogenic mechanisms underlying batten disease are unclear. Recently,we determined that individuals with batten disease, as well as CLN3knockout http://www.neurology.org/cgi/content/full/64/4/743

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Neurology Online. Full Text Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten... Ramirez-Montealegre et al. Neurology. This Article Abstract Figures Only Full Text (PDF) ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ramirez-Montealegre, D. Articles by Pearce, D. A. Related Collections All Immunology Autoimmune diseases Metabolic disease (inherited) Leukodystrophies To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00

65. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for batten disease ALLFIELDS are shown below. Include trialsthat 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. 3 studies were found. Recruiting Conditions: Batten Disease; Late Infantile Neuronal Lipofuscinosis Recruiting Safety Study of a Gene Transfer Vector for Children with Late Infantile Neuronal Ceroid Lipofuscinosis Conditions: Batten Disease; Late Infantile Neuronal Lipofuscinosis 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

66. SAIDA - Batten's Disease Support Group batten disease is an inherited condition affecting the brain, batten diseasemay affect a person of any age, but primarily strikes infants, toddlers and http://sunsite.wits.ac.za/saida/disorders/battens_society.htm

Batten disease is an inherited condition affecting the brain, usually characterized by fits (convulsions), blindness, and deteriorating mental and physical development. It is recessively inherited, which means that a person must get two abnormal genes (one from each parent) in order to develop Batten Disease. An individual that inherits only one abnormal gene from either one of his/her parents will not develop the disease but is a carrier (like the unaffected parent). If two carriers have children together, with every pregnancy there is a 25% (or 1 in 4) chance that their baby will develop Batten Disease. Batten Disease may affect a person of any age, but primarily strikes infants, toddlers and school-age children. There are four major forms of Batten Disease, defined by age of onset and severity of symptoms: Infantile, Late Infantile, Juvenile and Adult. The gene defect in the infantile type has been localized to chromosome 1p32 and the enzyme palmitoyl protein thioesterase is abnormal. The gene involved in the juvenile form has been localized to chromosome 16p12.1. The genes responsible for the other two types have not been localized yet. The Batten Disease Support and Research Association (BDSRA) was created in 1986 by the parents of three affected children. It is an international, non-profit organization created to provide information and support, as well as to further research to fight and eventually eliminate Batten Disease. It has branches in Canada, the United States and Australia. To visit their site please click on

67. Stengel's Syndrome (www.whonamedit.com) Also known as batten disease,BattenMayou disease,Batten-Spielmeyer-Vogtdisease,Spielmeyer-Vogt-Stock disease,Spielmeyer-Vogt syndrome,Stock-Spielmeyer http://www.whonamedit.com/synd.cfm/7.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Stengel's syndrome Also known as: Batten disease Batten-Mayou disease Batten-Spielmeyer-Vogt disease Spielmeyer-Vogt-Stock disease Spielmeyer-Vogt syndrome Stock-Spielmeyer disease Spielmeyer-Sjögren disease Synonyms: Cerebromacular degeneration, cerebromacular dystrophy, cerebroretinal degeneration, idiotia amaurotica juvenilis, juvenile amaurotic familial idiocy, juvenile ganglioside lipidosis, late juvenile cerebral sphingolipidosis, neuronal ceroid lipofuscinosis, pigmentary retinal lipoid neuronal heredodegeneration, pigmentary retinal neuronal heredodegeneration. Associated persons: Frederick Eustace Batten Marmaduke Stephen Mayou Karl Gustaf Torsten Sjögren Walther Spielmeyer ... Heinrich Vogt Description: A juvenile form of familial amaurotic idiocy characterized by rapid deterioration of vision and intelligence, with mental disturbances, convulsions, and other neurologic symptoms. Eventually the child becomes blind, bedridden and demented. Both sexes equally affected. Onset at age 5-8 years; death within 10 to 15 years after onset. It is most often seen in Jewish families but may occur in any ethnic group. Transmitted as an autosomal recessive trait. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses.

68. Batten Disease Juvenile neuronal ceroid lipofuscinosis (JNCL), or batten disease, is one typeof the neuronal ceroid lipofuscinoses (NCL), a collection of eight inherited http://www.humpath.com/article.php3?id_article=5052

69. Batten Disease, PWS Prader Willi Syndrome Stroke, Paralysis, Torticollis, Muscle Solves many problems associated with poor head control it opens the airway,simplifies feeding, relieves pressure on the back and neck, and allows eye http://www.practicalthings.com/index.asp

Home Contact Us My Cart Poor muscle tone causes daily and lifelong head control problems for many people with special needs. These will include a restricted airway - causing breathing difficulties, it makes feeding difficult, puts undue pressure on the back and neck, and hinders interaction. Heads Up is a fully adjustable, elastic based system where each side adjusts independently from the other This gives the caregiver the ability to apply the desired amount of tension. Since the elastic stretches, it allows a full range of motion. As the elastic stretches, the resistance increases - increasing support. This elastic tension adjustability provides for maximum comfort and outstanding control. The Heads Up system provides unparalleled versatility because it is compatible with almost all forms of special needs equipment, and has various medical applications.

70. URMC To Study Batten Disease - Campus Times - News URMC to study batten disease, , Campus Times, a newspaper of University of Rochester. http://www.campustimes.org/news/2005/03/17/News/Urmc-To.Study.Batten.Disease-896

document.write(''+''); Campus Times Extras: Student Resources Scholarships Movies Travel ... CNN showNetworkBanner(1); Current Issue: document.write(currentissuedayname + ', ' + currentissuemonthname + ' ' + currentissueday + ', ' + currentissueyear); var story_id = 896739; Home News URMC to study Batten Disease By Aadhavi Sridharan Published: Thursday, March 17, 2005 The Batten Disease Diagnostic and Clinical Research Center has recently been established at the UR Medical Center to help children and their families affected by Batten Disease. "Batten Disease is a rare disorder," Associate Professor and Chief of the Division of Child Neurology Jonathan Mink said. "Most child neurologists may see only one patient [with this disease] in their career. Having a diagnostic and clinical research center where there are physicians with substantial experience seeing patients with Batten disease will provide several advantages." Batten Disease is a group of genetically inherited disorders called neuronal ceroid lipofuscinoses. The Juvenile Batten Disease, which is the primary focus of the center, is a very uncommon disease affecting 1 in 20,000 children in the United States.

71. IL USA - Disabilities - Batten Disease links to websites about batten disease. batten disease information on thedisease and it s causes. batten disease Support and Research Association http://www.ilusa.com/links/disable/batten.htm

72. 5k Run/Walk For Batten Disease To raise awareness and fund research for batten disease batten disease is aninherited, degenerative, brain disease, which may affect a person of any http://www.raceberryjam.com/battens.html

Sixth Annual 5k Run/Walk For Batten Disease Lake Phalen Pavilion 1600 Phalen Drive St. Paul, MN Saturday, May 14, 2005 9:00 - 9:45 AM Registration 10:05 AM Run begins 10:15 AM Walk begins To raise awareness and fund research for Batten Disease With Your Help there is Hope The Minnesota Chapter - BDSRA is a non-profit organization made up of 43 families, throughout Minnesota, Nebraska, North Dakota, and South Dakota, who have children diagnosed with this devastating disease. Our goals are to be a support to families, to raise awareness as well as funds for research. One way of accomplishing this is to hold a "run/walk" to raise money in hopes of finding a cure. Through generous donations from people like you we can accomplish this. Won't you please help us - our children's lives are at stake. The Minnesota Chapter - BDSRA and the Ramsey County Sheriff's Department will be co-sponsoring this event. We are planning to make this a fun time for the whole family with activities such as: Games and prizes for the kids Boat rides Sheriff K-9 Demonstration Food and fun for everyone Registration will begin at 9:00 a.m. The Kids fun Run will begin at 9:55 a.m., the certified 5K run at 10:05 a.m., and walkers be ready to start at 10:15 a.m. Things will kick off at the Phalen Lake Pavilion.

73. Nick's Battle - About Juvenile Batten Disease Juvenile batten disease is a autosomal recessive disorder. There is no curefor Juvenile batten disease at the present time. http://www.nicksbattle.com/aboutJNCL.htm

Nick's Battle Home Nick Adventures Articles ... Contact Us What is Juvenile Batten Disease Juvenile Batten Disease is a autosomal recessive disorder. This Disease is not contagious in any way. It can only be passed on to a affected or carrier child by their parents. The affected means that both parents had the same defective gene, and both passed on that same gene to their child. This disease will cause children to go blind, become bedridden, and will eventually die an ugly death. They will also suffer mental and physical disabilities and seizures that are both seen and unseen. There is no cure for Juvenile Batten Disease at the present time. The affected's life expectancy is usually late teens to early twenties. It has been noted that some will live into their thirties. The only thing that can be done is to treat the symptoms and lessen the pain. A carrier will only have one defective gene a will not be affected by the disease. However, they can pass this on to their children. Remember it takes both parents to pass the same gene to be defective to become affected. Some families can have either affected, carriers, or normal, no defective gene whatsoever. They only way to find out is for genetic testing for the disease.

74. NicksBattle-Nicholas Heuchan's Fight Against Juvenile Batten Disease and his battle with Juvenile batten disease. Click here to learn about Nick’sAdventures Click here to learn more about Juvenile batten disease http://www.nicksbattle.com/

Welcome to Nick's Battle Home Nick Adventures Articles ... Contact Us Please click on photo to read about Nick This site is dedicated to our son Nicholas, and his battle with Juvenile Batten Disease. Click here to learn more about Juvenile Batten Disease Click here to email us. Updated May 19, 2004

75. Batten Disease batten disease is an inherited disorder that leads to a progressive Although theterm batten disease has historically been used to describe the juvenile http://www.visionrx.com/library/enc/enc_batten.asp

Health Center Dictionary Encyclopedia Innovation Spotlight ... Eye Care Library Batten Disease What causes Batten disease? How is Batten disease diagnosed? How is Batten disease controlled? Batten disease is an inherited disorder that leads to a progressive deterioration of the brain and nervous system, and inevitably leads to an early death. Because vision loss is one of the earliest signs of the disease, it is often first suspected during an eye exam. Although the term Batten disease has historically been used to describe the juvenile form of a disorder called neuronal ceroid lipofuscinosis (NCL), it is now commonly used to describe all forms of NCL, including those that occur after childhood. The disease was named after the British pediatrician who first described it in 1903. It is not contagious and, at present, there is no cure or treatment. Classified by age, there are four different forms of Batten disease, each genetically different: infantile, which begins between the ages of 6 months and 2 years late infantile, which begins between the ages of 2 and 4

76. Neuronal Ceroid-Lipofuscinosis - Batten Disease - Information Page With HONselec An inherited degenerative disease characterized by neuronal cytoplasmic inclusio http://www.hon.ch/HONselect/RareDiseases/EN/C10.574.500.550.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Neuronal Ceroid-Lipofuscinosis": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Neuronal Ceroid-Lipofuscinosis Definition: An inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Affected individuals develop retinal degeneration, seizures, myoclonus, ataxia, rigidity, and progressive dementia. Clinically there are four subtypes, divided by age of onset of symptoms: infantile (Santavuori-Haltia type), late infantile (Jansky-Bielschowsky type), juvenile (Spielmeyer-Vogt type), and adult (Kuf's disease). The late infantile and juvenile forms may both also be referred to as Batten Disease and Batten-Mayou Disease. (Adams et al., Principles of Neurology, 6th ed, p957) Synonym(s): Batten Disease / Ceroid-Lipofuscinosis, Neuronal / Jansky-Bielschowsky Disease / Kufs Disease /

77. Batten Disease: Evaluation Of CLN3 Mutations On Protein Localization And Functio Approximately 85% of batten disease cases result from a 1.02 kb deletion (exons7–8) in Two Motifs Target batten disease Protein CLN3 to Lysosomes in http://hmg.oxfordjournals.org/cgi/content/full/9/5/735

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (30) Request Permissions PubMed PubMed Citation Articles by Haskell, R. E. Articles by Davidson, B. L. Human Molecular Genetics, 2000, Vol. 9, No. 5 Oxford University Press Batten disease: evaluation of mutations on protein localization and function Ronald E. Haskell Carrie J. Carr David A. Pearce Michael J. Bennett and Beverly L. Davidson Program in Gene Therapy, Departments of Internal Medicine and Neurology, University of Iowa, Iowa City, IA 52242, USA, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA and Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA

78. The Neuronal Ceroid Lipofuscinoses (Batten Disease) (Edited By: H.H. Goebel, S.E The Neuronal Ceroid Lipofuscinoses (batten disease). Volume 33 Biomedical andHealth Research Edited by HH Goebel, SE Mole and BD Lake http://www.iospress.nl/html/9051994818.php

The Neuronal Ceroid Lipofuscinoses (Batten Disease) Volume Biomedical and Health Research Edited by: H.H. Goebel, S.E. Mole and B.D. Lake 1999, 198 pp., hardcover ISBN: Price: IOS Press Nieuwe Hemweg 6B, 1013 BG Amsterdam, The Netherlands Tel.: +31 20 688 3355, Fax: +31 20 687 0039 E-mail: info@iospress.nl

79. 24Dr.com Reference Library - Encyclopaedia - Batten Disease 24Dr.com is an online interactive information system. This site was developed toenable members of the general public to access medical professionals and http://www.24dr.com/reference/encyclopaedia/batten.htm

Search for in All of 24Dr.com Contact points Dictionary Encyclopaedia eShop Library News Medicines Information Symptoms Travel Clinic Home Register / Login Dictionary Encyclopaedia Travel clinic Drug database Library Contact points Common symptoms Illustrations Feedback BATTEN DISEASE What is it? Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Who gets it? Batten disease and other forms of NCL (neuronal ceroid lipofuscinoses) are relatively rare, occurring in an estimated 2 to 4 of every 100,000 live births. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene. Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children faces a one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene. Individuals who have only one defective gene are known as carriers, meaning they do not develop the disease, but they can pass the gene on to their own children. Adult NCL may be inherited as an autosomal recessive or, less often, as an autosomal dominant disorder. In autosomal dominant inheritance, all people who inherit a single copy of the disease gene develop the disease. As a result, there are no unaffected carriers of the gene.

80. SPRIDA - Batten Disease - Www.orebroll.se SPRIDA has developed a program for communication, named STRUKTUR, to be used athome and in school. http://www.orebroll.se/psykhab/page____7141.aspx

Snabbval landstinget ADB och Tele Habilitering Karlskoga lasarett Landstingsservice Lindesbergs lasarett Medicinsk Teknik Psykiatri Regionutveckling Universitetssjukhuset Standard orebroll.se Psykiatri och habilitering Habiliteringen i l¤net V¥rd och behandling Centrum f¶r hj¤lpmedel Start Psykiatrin i l¤net Habiliteringen i l¤net Arbeta hos oss ... Webbkarta Centrum f¶r hj¤lpmedel Start Kontakta oss SPRIDA - Taltj¤nst Hj¤lpmedel ... Kvalitetsutveckling V¤lkommen till Centrum f¶r hj¤lpmedel 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.

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