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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

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

Extractions: 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.
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

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):
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
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

Extractions: Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: National Institute of Neurological Disorders and Stroke: Homepage MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
Juvenile Neuronal Ceroid Lipofuscinosis
http://www.mgh.harvard.edu/children/prof/Neurology handouts/ceroid talk sims_fil
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

Extractions: 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
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

Extractions: 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
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

Extractions: 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.
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

Extractions: 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 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
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

Extractions: 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.
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

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

Extractions: (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.
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

Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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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