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Neuronal Ceroid Lipofuscinosis:     more detail

Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis The dissection of a degenerative disease: Proceedings of four round-table conferences on the pathogenesis of Batten's disease (neuronal ceroid-lipofuscinosis) Lipofuscin and Ceroid Pigments (Advances in Experimental Medicine and Biology) Batten Disease: Diagnosis, Treatment, and Research, Volume 45 (Advances in Genetics) The Official Parent's Sourcebook on Batten Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18 Lipofuscin and Ceroid Pigments: State of the Art 1995 (Journal - Gerontology, , Vol 41, Suppl. 2) (Pt.2) Dogs help track down genes.(MEDICAL UPDATE: Cutting-edge news from a source you can trust)(Batten disease): An article from: Saturday Evening Post Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Michelle lee Brandt, Rosalyn, MD Carson-Dewitt, 2005 Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle Brandt, 2005 Batten disease (SuDoc HE 20.3502:B 32) by U.S. Dept of Health and Human Services, 1992

lists with details

1. 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
   
   Extractions: Make a Donation Send this Page to a Friend Contact Us Latest News! ... Links It's SPRING!! That means it is time for the Bluebonnets on the Brazos Fun Run. When: Saturday March 26th Easter Weekend Where: Washington-on-Brazos State Historical Park Sign-up: By clicking below For more information on the Fun Run click below: Bluebonnets on the Brazos Fun Run Brochure (Adobe pdf format) For more information on the Park and surrounding lodgings and attractions click below: PO Box 1526 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.

2. Batten Disease Information Page National Institute Of
   NINDS Batten Disease Information Page Synonym(s) neuronal ceroid lipofuscinosis Condensed from Batten Disease Fact Sheet  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. CCHS Clinical Digital Library
   neuronal ceroid lipofuscinosis 1 Access document; neuronal ceroid lipofuscinosis 2 Access document neuronal ceroid lipofuscinosis List of documents  
   http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidosis/batten.ht
   
   Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO Neurology (eMedicine): Table of contents Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):

4. Palmitoyl Protein Thioesterase (PPT) Localizes Into Synaptosomes
   PPT) localizes into synaptosomes and synaptic vesicles in neurons implications for infantile neuronal ceroid lipofuscinosis (INCL)  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. 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  
   http://www.wrongdiagnosis.com/medical/neuronal_ceroid_lipofuscinosis.htm

6. The Crystal Structure Of Palmitoyl Protein Thioesterase 1 And The
   Biochemistry The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Clinical Trial: Cystagon To Treat Infantile Neuronal Ceroid Lipofuscinosis
   neuronal ceroid lipofuscinosis (NCLs) are the most common (1 in 12500) heritable progressive Santavuori P. Neuronal ceroidlipofuscinoses in childhood.  
   http://www.clinicaltrials.gov/ct/gui/show/NCT00028262
   
   Extractions: Verified by National Institutes of Health Clinical Center (CC) April 8, 2005 Sponsored by: National Institute of Child Health and Human Development (NICHD) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. At around 11 to 13 months of age, patients develop slowed head growth, mild brain atrophy (wasting), electroencephalographic (EEG) changes and retinal deterioration, with symptoms worsening over time. The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL. Children with INCL between 6 months and 3 years of age may be eligible for this study. Participants take Cystagon daily by mouth every 6 hours. They are admitted to the NIH Clinical Center for a 4- to 5-day period every 6 months for the following tests and evaluations:

8. The Crystal Structure Of Palmitoyl Protein Thioesterase 1 And The
   Your browser does not support frames. Click here to view the unframed reprint.  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Hematopoietic Stem Cell Transplantation In Infantile Neuronal
   Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis T. L nnqvist, MD , S. L. Vanhanen, MD  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Neuronal Ceroid Lipofuscinoses Are Connected At Molecular Level
    G. Bedoya, S. E. Mole, and A. RuizLinares A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset Neurology  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Neuronal Ceroid Lipofuscinoses Are Connected At Molecular Level
    Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level Interaction of CLN5 Protein with CLN2 and CLN3 Jouni Vesa * Mark H. Chin *  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Ceroid Lipofuscinosis Main Page
    If you suspect your dog has neuronal ceroid lipofuscinosis, we encourage you to have a veterinarian or veterinary neurologist examine the dog and advise you  
    http://www.caninegeneticdiseases.net/CL_site/CLindex.htm
    
    Extractions: Canine Neuronal Ceroid Lipofuscinosis This website is designed to provide basic information on canine ceroid lipofuscinosis (neuronal ceroid lipofuscinosis), and serve as a resource for those concerned with this disease: breeders, owners, veterinarians, and researchers. Information presented here is not a substitute for an accurate diagnosis and specific advice geared to your pet's needs. If you suspect your dog has neuronal ceroid lipofuscinosis, we encourage you to have a veterinarian or veterinary neurologist examine the dog and advise you. **BREAKING NEWS** DNA TEST NOW AVAILABLE FOR AMERICAN BULLDOGS American Bulldog owners please see further information in the breed listing portion of the BASICS section, and use instructions and forms avialable in the SAMPLE SUBMISSION section to send samples. DNA TEST NOW AVAILABLE FOR ENGLISH SETTERS English Setter owners please see further information in the breed listing portion of the BASICS section, and use instructions and forms avialable in the SAMPLE SUBMISSION section to send samples.

13. Protein Is Key To Fatal Disorder And Normal Cell Function
    "We may be able to devise a way to treat juvenile neuronal ceroid lipofuscinosis Batten disease by finding an alternate route for delivery  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. BioMed Central | Full Text | The Neuronal Ceroid Lipofuscinosis Cln8gene Express
    The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited  
    http://www.biomedcentral.com/1471-2202/6/27

15. Clinical Trial Cystagon To Treat Infantile Neuronal Ceroid
    Help What's New About Cystagon to Treat Infantile neuronal ceroid lipofuscinosis This study is currently recruiting patients. Sponsored by  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. UniProt Knowledgebase Keyword: Neuronal Ceroid Lipofuscinosis
    Protein which, if defective, causes neuronal ceroid lipofuscinosis (CLN or NCL) CLN5_HUMAN, O75503, CLN5, Ceroidlipofuscinosis neuronal protein 5 (CLN5  
    http://www.expasy.org/cgi-bin/get-entries?KW=Neuronal ceroid lipofuscinosis

17. The Crystal Structure Of Palmitoyl Protein Thioesterase-2 (PPT2)
    palmitoyl protein thioesterase1 (PPT1) have been found to cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. UniProtKB/Swiss-Prot Entry O75503 [CLN5_HUMAN] Ceroid-lipofuscinosis Neuronal Pr
    Protein name, Ceroidlipofuscinosis neuronal protein 5 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. ; Hum. Mol. Genet.  
    http://www.expasy.org/uniprot/O75503
    
    Extractions: ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 37, December 1998 Sequence was last modified in Release 37, December 1998 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Ceroid-lipofuscinosis neuronal protein 5 Synonym CLN5 protein Gene name Name: From Homo sapiens (Human) TaxID Taxonomy ... References

19. OptiGen - CL (Neuronal Ceroid Lipofuscinosis) Test For Border Collies
    Diagnostic lab service and information for genetic diseases in purebred dogs. Located in Ithaca, New York.  
    http://www.optigen.com/opt9_cltest4collies.html
    
    Extractions: SEARCH: For: Border Collies The OptiGen CL test is a DNA-based test that provides a method to identify the Border Collie neuronal ceroid lipofuscinosis disease gene, commonly referred to as CL, inherited as a recessive genetic defect. This test allows you to control the CL gene frequency in your line so you can prevent producing puppies affected with the disease. Among lines of Australian descent, it is estimated that up to 3% of Border Collies are carriers and about 1 in 1000 matings will produce affected pups. Besides Border Collies, a type of neuronal ceroid lipofuscinosis disease has been described in English Setters, Tibetan Terriers and American Bulldogs. It has also been identified in human, cow, horse, sheep and mouse. There are several (at least seven) different genes known to result in a specific form of the disease. The OptiGen CL test is specific for the Border Collie and detects the CL genetic status in Border Collies only. Reliable identification of dogs that do not carry disease genes is the key to controlling autosomal recessive diseases. The OptiGen CL test enables accurate identification of these dogs. Called "genetically clear," "noncarriers" or, more formally, "homozygous normals," such dogs can pass only the normal gene on to all their pups - which means that none of their pups can ever be affected with CL. These "clear" dogs can be bred to any mate, even to a CL carrier which may be a desirable breeding prospect for other reasons.

20. Entrez PubMed
    Childhoodonset neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

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