1. NIH Guide: NEURONAL CEROID LIPOFUSCINOSIS, INCLUDING BATTEN DISEASE Full Text PA96-065 neuronal ceroid lipofuscinosis, INCLUDING BATTEN DISEASE NIH GUIDE, Volume 25, Number 23, July 12, 1996 PA NUMBER PA-96-065 P.T. of research grant applications concerning neuronal ceroid lipofuscinosis. HEALTHY PEOPLE 2000 The http://grants.nih.gov/grants/guide/pa-files/PA-96-065.html

Return to PA Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

2. The Luke & Rachel Batten Foundation Created to engage in education and medical research toward diagnosis, treatment and/or cure of Juvenile neuronal ceroid lipofuscinosis (Batten disease) and to assist persons with the disease. http://lrbf.org

Make a Donation Send this Page to a Friend Contact Us Latest News! ... Links Thank you to everyone in Chili's Houston Region for their support of the LRBF. What a wonderful success the Golf Classic and Chili's Pepper Partner promotion were for 2004. Bluebonnets on the Brazos Run was also a great success. Thanks to the following for the support: Washington on the Brazos State Park Signmeup.com Luke's Locker Houston PO Box 1526 Cypress, Texas 77410-1526 Article Published citing the Foundation as a contributor. Click for information from the Latest News Section Do you have children. . . maybe grandchildren? Well, imagine this. . . You take your five year-old to the eye doctor because he's complaining about his sight. Your biggest fear is that he'll be burdened with eye glasses. The your world changes when your referred to a pediatric neurologist who diagnoses your child with Batten disease. Batten disease, a little known genetic disorder that has just put your son in the terminally ill category. The nightmare is only half over as soon your only other child your little girl is diagnosed as well. What is Batten Disease It is an inherited neurological disorder, the most common degenerative brain disease in children. It is neuronal ceroid lipofuscinosis. At about age seven your child will go blind and begin suffering seizures. Over the next few years he will lose his memory, motor skills and ability to communicate. He will then become bedridden and have to be fed from a tube.

3. Search Jablonski's Syndromes Database Neuronal CeroidLipofuscinosis Neuronal Ceroid-Lipofuscinosis. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=neuronal ceroid lipofusci

4. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Nervous System Diseases Neuronal CeroidLipofuscinosis. Include trials that are to Treat Infantile neuronal ceroid lipofuscinosis. Condition Infantile Neronal Ceroid Lipofuscinosis http://clinicaltrials.gov/ct/screen/BrowseAny;jsessionid=8F3912DE71CEBAF29DC83D1

5. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Diseases and Abnormalities at or before Birth Neuronal CeroidLipofuscinosis to Treat Infantile neuronal ceroid lipofuscinosis. Condition Infantile Neronal Ceroid Lipofuscinosis http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

6. Clinical Trial: Cystagon To Treat Infantile Neuronal Ceroid Lipofuscinosis Cystagon to Treat Infantile neuronal ceroid lipofuscinosis. Santavuori P. Neuronal ceroidlipofuscinoses in childhood. Brain Dev. 1988;10(2)80-3. Review. http://www.clinicaltrials.gov/ct/gui/show/NCT00028262?order=18

7. Neuronal Ceroid Lipofuscinosis neuronal ceroid lipofuscinosis,. Print this article, inherited lysosomal degenerative disease characterized by an abnormal sphingolipid http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/NEURONAL CEROID

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Neuronal ceroid lipofuscinosis, inherited lysosomal degenerative disease characterized by an abnormal sphingolipid metabolism (see lysosomal diseases ). Four types are usually identified: infantile, late infantile, juvenile and adult. Eponyms for the different forms are: Santavuori disease, Jansky Bielchowsky disease, Spielmeyer Vogt or Batten disease, Kufs' disease. Clinically a whole range of symptoms is found, including delayed psychomotor development, ataxia, hypotonia, choreoathetosis, epilepsy and visual failure. The grey matter is mainly affected and nonselective diffuse cerebral and cerebellar cortical atrophy is the MR finding; abnormal T2 hyperintensity of the white matter may also be found. GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

8. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosis Access document. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidosis/batten.ht

Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Neuronal Ceroid Lipofuscinosis Patient/Family Resource Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Introduction: Access document Neuronal Ceroid-Lipofuscinoses: Access document Reviews and Selected Updates: Access document References: Access document Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Ataxia with Identified Genetic and Biochemical Defects: Access document Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):

9. Ceroid Lipofuscinosis, Neuronal 3, Juvenile Information Diseases Database Ceroid lipofuscinosis, neuronal 3, juvenile Juvenile neuronal ceroid lipofuscinosis BattenMayou disease Batten's disease Batten-Spielmeyer-Vogt disease, Disease Database Information 5 synonyms http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=31534

10. CCHS Clinical Digital Library neuronal ceroid lipofuscinosis Patient/Family Resources. Spanish Miscellaneous. neuronal ceroid lipofuscinosis Clinical Resources. http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batten

Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Neuronal Ceroid Lipofuscinosis Clinical Resources Batten Disease Support and Research Association Homepage Batten Disease Facts and Fictions: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Batten Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Batten Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

11. Juvenile Neuronal Ceroid Lipofuscinosis http://www.mgh.harvard.edu/children/prof/Neurology handouts/ceroid talk sims_fil

12. Medical Dictionary: Neuronal Ceroid Lipofuscinosis - WrongDiagnosis.com Medical dictionary definition of neuronal ceroid lipofuscinosis as a medical term including diseases, symptoms, treatments, and other medical and health issues http://www.wrongdiagnosis.com/medical/neuronal_ceroid_lipofuscinosis.htm

Dictionary IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Neuronal Ceroid Lipofuscinosis Next chapters: Nevi Nevus NFPA NGU ... Feedback Medical Dictionary: Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis : Another name for Batten Disease Neuronal Ceroid Lipofuscinosis (condition): Rare childhood genetic degenerative nerve system disease. Neuronal Ceroid Lipofuscinosis : Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. More information on medical condition: Batten Disease Introduction: Batten Disease Basic Summary for Batten Disease Types of Batten Disease ... Treatments for Batten Disease Footnotes: 1. excerpt from NINDS Batten Disease Information Page: NINDS Dictionary Did we miss something? Please tell your story or provide feedback or suggestions By using this site you agree to our and . Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our

13. NORD - National Organization For Rare Disorders, Inc. from NORD s office in Washington, DC. Research. Infantile neuronal ceroid lipofuscinosis (INCL). At this time, there is no effective http://www.rarediseases.org/nord/research/infantile

Search NORD's Databases Read about diseases in NORD's Rare Disease Database. Find an organization in our Organizational Database. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Index of Organizations The A-to-Z of Organizations. Organizational Database Find a support group or other source of help. Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to the Rare Disease Database. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Infantile Neuronal Ceroid Lipofuscinosis (INCL) At this time, there is no effective treatment available for this genetic disease, which is the infantile form of a group of progressive, neurometabolic diseases. Doctors at the NIH currently are enrolling children between six months and two years of age for participation in a clinical study of the drug Cystagon for INCL. The study takes place at the NIH in Bethesda, Md. All study-related tests and medicines are provided free of charge. For more information about this National Institutes of Health (NIH) study, go to

14. Santavuori Disease,CLN1,INCL,Infantile Neuronal Ceroid Lipofuscinosis,Neuronal C Santavuori Disease,CLN1,INCL,Infantile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis Type 1,Infantile Type neuronal ceroid lipofuscinosis http://www.icomm.ca/geneinfo/santavori.htm

Santavuori Disease,CLN1,INCL,Infantile Neuronal Ceroid Lipofuscinosis,Neuronal Ceroid Lipofuscinosis Type 1,Infantile Type Neuronal Ceroid Lipofuscinosis,Infantile Finnish Type Neuronal Ceroid Lipofuscinosis,Balkan Disease,Santavuori-Haltia 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 Santavori Syndrome (as defined by the National Organization for Rare Disorders also known as: INCL Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Type 1 Infantile Type Neuronal Ceroid Lipofuscinosis Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease) Balkan Disease Santavuori-Haltia Disease (as defined by the National Organization for Rare Disorders Santavuori Disease, an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These diseases share certain similar symptoms and are distinguished in part by the age at which such symptoms appear.

15. CERF NEWS Jan 2000 neuronal ceroid lipofuscinosis (NCL) is a hereditary, progressive, disease in dogs and humans, which commonly leads to blindness and other neurologic problems http://www.vmdb.org/jan00.html

CANINE EYE REGISTRATION FOUNDATION Jan, 2000 INSIDE STAFF NOTES DX SPOTLIGHT UPDATES STAFF NOTES There have been many questions recently regarding the comparison of Optigen and CERF's information with regards to PRA in Labs. It is important that one does not try to simply do a direct comparison of these two sets of numbers. Due to many factors these two sets of statistics will not match. For more information about this please see the article on OptiGen's web site at www.optigen.com DX SPOTLIGHT Neuronal Ceroid Lipofusinosis Julie Gionfriddo DVM, MS, DACVO ACVO Genetics Committee/CERF Liaison Neuronal Ceroid Lipofuscinosis (NCL) is a hereditary, progressive, disease in dogs and humans, which commonly leads to blindness and other neurologic problems and can lead to premature death. It is a lipid storage disease, meaning that affected individuals have an abnormal ability to store fat-associate pigments (lipopigments) in their bodies. Many biochemical defects have been implicated in these lipid storage diseases. NCL causes degeneration of the retina and usually affects the central nervous system (the brain) as well. NCL has been described in several breeds including the English setter, dalmatian, Border collie, Tibetan terrier, Polish Owczarek Nizinni (PON), and the miniature schnauzer.1 The hereditary mechanism by which this disease is transferred has been determined in only the English setter breed. In that breed it is inherited as an autosomal recessive trait.2

16. Santavuori Disease by this report. Synonyms CLN1; INCL; Infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis Type 1; Infantile Type http://my.webmd.com/hw/health_guide_atoz/nord1090.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Santavuori Disease Important It is possible that the main title of the report Santavuori 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 INCL Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Type 1 Infantile Type Neuronal Ceroid Lipofuscinosis Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease) Santavuori-Haltia Disease Disorder Subdivisions None General Discussion Santavuori Disease, an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These diseases share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori Disease is considered the infantile form of the neuronal ceroid lipofuscinoses. Resources Vaincre Les Maladies Lysosomales 9 Place du 19 Mars 1962

17. Kufs Disease Generalized Lipofuscinosis; neuronal ceroid lipofuscinosis, Adult Type. Disorder Subdivisions None. General Discussion Kufs Disease http://my.webmd.com/hw/raising_a_family/nord349.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Kufs Disease Important It is possible that the main title of the report Kufs 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 Adult-Onset Ceroidosis Amaurotic Familial Idiocy, Adult Ceroid-Lipofuscinosis, Adult form Generalized Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Type Disorder Subdivisions None General Discussion Kufs Disease is characterized by neurologic symptoms that may mimic mental illness, movement malfunction, and problems with sight. Kufs Disease is linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous system. Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders (neuronal ceroid lipofuscinoses [NCL]) that are differentiated by the age of onset. The various forms of this disorder are often extremely difficult to differentiate from other progressive degenerative diseases of the central nervous system. Resources National Tay-Sachs and Allied Diseases Association, Inc.

18. Juvenile Neuronal Ceroid Lipofuscinosis 20Jul-00 Infantile neuronal ceroid lipofuscinosis http://www.mgh.harvard.edu/children/prof/Neurology handouts/ceroid talk sims.htm

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19. Neurodegenetics DNA Diagnostic Laboratory DNA Diagnostic Testing for Late Infantile neuronal ceroid lipofuscinosis (LINCL; CLN2). We are currently doing DNA mutation analysis http://www.mgh.harvard.edu/neuroDNAlab/neuroDNA_lateinfantile.htm

Home Current Test Offerings General Requisition Form Price List and CPT Codes ... MGH Neurology DNA Diagnostic Testing for Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL; CLN2) We are currently doing DNA mutation analysis of the Late Infantile Neuronal Ceroid Lipofuscinosis gene (CLN2) using PCR amplification and direct DNA sequencing. Our sequencing analysis covers the intron 5/exon 6 splicing mutation and a nonsense mutation in exon 6 which are the two most common mutations, as well as the entire regions in exons 9 and 10. Together, these mutations have been found to account for 80% of all the mutations identified in CLN2 gene among the classical late infantile neuronal ceroid lipofuscinosis patients.1 DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected patient, and in carrier or prenatal testing situations. This analysis can be done from genomic DNA extracted from whole blood and from chorionic villi (CVS) or amniotic fluid samples. Our charge for LINCL is $425/first individual in family, $250 for each additional family member studied thereafter and $550 for prenatal samples.

20. Kufs Disease Batten Disease is the juvenile form of neuronal ceroid lipofuscinosis (NCL). Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol. http://www.bchealthguide.org/kbase/nord/nord349.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord349"; var hwDocTitle="Kufs Disease"; var hwRank="1"; var hwSectionHWID="nord349"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Kufs Disease Important It is possible that the main title of the report 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 Adult-Onset Ceroidosis Amaurotic Familial Idiocy, Adult Ceroid-Lipofuscinosis, Adult form Generalized Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Type Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Batten Disease Gaucher Disease Jansky-Bielschowsky Disease Tay Sachs Disease Sandhoff Disease Niemann-Pick Disease General Discussion Kufs Disease is characterized by neurologic symptoms that may mimic mental illness, movement malfunction, and problems with sight. Kufs Disease is linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous system. Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders (neuronal ceroid lipofuscinoses [NCL]) that are differentiated by the age of onset. The various forms of this disorder are often extremely difficult to differentiate from other progressive degenerative diseases of the central nervous system.

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