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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

Disease Report For: Infantile Neuronal Ceroid Lipofuscinosis
neuronal ceroid lipofuscinosis, infantile finnish type; NCL Title Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice
http://bioweb.ensam.inra.fr/ESTHER/disease?name=Infantile neuronal ceroid lipofu
The Neuronal Ceroid Lipofuscinosis Cln8gene Expression Is Developmentally Regula
Abstract Background The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by accumulation of
http://bmc.ub.uni-potsdam.de/1471-2202-6-27/text.htm
The Neuronal Ceroid Lipofuscinosis Cln8gene Expression Is Developmentally Regula
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http://bmc.ub.uni-potsdam.de/1471-2202-6-27/
Batten Disease Information Page: National Institute Of Neurological Disorders An
Synonym(s) neuronal ceroid lipofuscinosis Condensed from Batten Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague
http://www.ninds.nih.gov/disorders/batten/batten.htm

Extractions: Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.
Arquivos De Neuro-Psiquiatria -
Infantile neuronal ceroid lipofuscinosis ? 7 cases (Table 2). Clinical findings. Morphologic diagnosis in neuronal ceroid lipofuscinosis.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000400001
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Classical lateinfantile neuronal ceroid lipofuscinosis (LINCL) is a fatal Feasibility of Gene Therapy for Late neuronal ceroid lipofuscinosis.
http://www.sciencemag.org/cgi/content/short/277/5333/1802

Extractions: You do not have access to this item: Abstract : Sleat et al., Association of Mutations in a Lysosomal Protein with Classical Late-Infantil..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription
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Feasibility of Gene Therapy for Late neuronal ceroid lipofuscinosis. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
http://www.sciencemag.org/cgi/content/abstract/277/5333/1802

Extractions: You do not have access to this item: Abstract : Sleat et al., Association of Mutations in a Lysosomal Protein with Classical Late-Infantil..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription
Florida State University College Of Medicine Digital Library
Patient/Family Resources by Topic Metabolic Disorders. neuronal ceroid lipofuscinosis Patient/Family Resources. Spanish Miscellaneous
http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batt

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 MedlinePlus Medical Encyclopedia: Table of contents Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources Healthfinder (US DHHS): Homepage MedlinePlus (National Library of Medicine) Health Topics: Index YAHOO - Health:Diseases and Conditions:Batten Disease
Neuronal Ceroid Lipofuscinosis (CLN)
Neuronal ceroidlipofuscinosis type 1 (CLN-1) Synonyms Hagberg-Santavuori disease (OMIM 256730) Neuronal ceroid-lipofuscinosis type 2 (CLN-2) Synonyms
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome484.html

Extractions: Syndrome neuronal ceroid lipofuscinosis (CLN) Synonym ceroid lipofuscinosis Summary Major Features Head and neck: Microcephaly. Eyes: Macular and retinal degeneration and pigmentary retinopathy. Spine: Kyphoscoliosis. Muscles: Hypotonia. Nervous system: Brain atrophy, granular inclusions, cerebellar lesions, neuronal degeneration, pyramidal and extrapyramidal symptoms, myoclonus epilepsy, ataxia, convulsions, deposits of neuronal ceroid lipofuscin in the central nervous system (curvilinear bodies), and neuronal granular osmiophilic deposits. Biochemical and metabolic features: Deposition of lipofuscin in neural perikaryon, hepatocytes, heart muscle, retina, conjunctiva, skin, and lymphocytes. Subunit c of ATP synthase is the major protein component of the storage bodies in CLN-2 and CLN-3. Ultrastructure of the stored material may appear as curvilinear bodies, fingerprint profile, or a mixture of both. Growth and development: Mental retardation, motor and speech retardation.
Neuronal Ceroid Lipofuscinosis - The Jackson Laboratory
neuronal ceroid lipofuscinosis (nclf). nclf/nclf mice develop progressive ataxia defects, myelination defects, neurodegeneration, neuromuscular defects and
http://www.jax.org/mmod/nclf.html

Extractions: MMOD Home nclf/nclf mice develop progressive ataxia defects, myelination defects, neurodegeneration, neuromuscular defects and retinal degeneration. In homozygous nclf mice, the outer nuclear layer shows cell loss by four months after birth. By 6 months the peripheral outer retina is more severely affected, and by 9 months the entire retina is atrophied. Gene Mouse Chromosome Human Chromosome Retinal ONL disappear by Strains B6.Cg- nclf ; STOCK- a/a J nclf/nclf Supported by The National Eye Institute and the Foundation Fighting Blindness We encourage you to use original citations for original data whenever possible. Please cite data and unreferenced information found on this web site in the following format: B. Chang, N.L. Hawes, M.T. Davisson. Mouse Models for Ocular Disease Home Page. World Wide Web URL: http://www.jax.org/mmod/, the month and year when you retrieved the information.
Infantil Neuronal Ceroid-lipofuscinos - Små Och Mindre Kända Handikappgrupper
The genetic spectrum of human neuronal ceroidlipofuscinosis. First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) PPT enzyme
http://www.sos.se/smkh/1997-29-023/1997-29-023.htm

Extractions: HTML-version: 5.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan eller INCL. Symtom - DNA-analys av blodprov Praktiska tips Resurspersoner info@srfriks.org
A CLN5 Mutation Causing An Atypical Neuronal Ceroid Lipofuscinosis Of Juvenile O
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. N. PinedaTrujillo, MSc , W. Cornejo, MD , J. Carrizosa,
http://www.neurology.org/cgi/content/abstract/64/4/740

Extractions: 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 Pineda-Trujillo, N. Related Collections Metabolic disease (inherited) Brief Communications N. Pineda-Trujillo, MSc W. Cornejo, MD J. Carrizosa, MD R. B. Wheeler, PhD A. Valencia, BSc J. Agudelo-Arango, BSc A. Cogollo, MD G. Anderson, PhD G. Bedoya, MSc S. E. Mole, PhD and Address correspondence and reprint requests to Dr. Andres Ruiz-Linares, The Galton Laboratory, Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, UK; e-mail: Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case
NIH Guide: NEURONAL CEROID LIPOFUSCINOSIS, INCLUDING BATTEN DISEASE
RESEARCH OBJECTIVES The neuronal ceroid lipofuscinoses are a group of hereditary In addition, the PA title, ( neuronal ceroid lipofuscinosis,
http://grants.nih.gov/grants/guide/pa-files/PA-96-065.html
Early Differential Diagnosis Of Infantile Neuronal Ceroid Lipofuscinosis, Rett S
Early atrophy was found in infantile neuronal ceroid lipofuscinosis and in Krabbe disease, being more severe in the latter. The thalami were hyperdense in 4
http://www.ajnr.org/cgi/content/abstract/15/8/1443

Extractions: This Article Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Vanhanen, S. L. Articles by Santavuori, P. SL Vanhanen, R Raininko and P Santavuori Department of Child Neurology, University of Helsinki, Finland. PURPOSE: To compare early radiologic findings in three clinically similar progressive encephalopathies of childhood. METHODS: Brain CT and/or MR studies were done in 57 children 3 to 36 months of age: 16 with infantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status. In addition, previous descriptions in the literature were collected. RESULTS:
Neuronal Ceroid Lipofuscinosis
neuronal ceroid lipofuscinosis. Used for. amaurotic familial idiocy. Used for. Batten disease. Used for. hereditary ceroid lipofuscinosis
http://crisp.cit.nih.gov/Thesaurus/00005531.htm
Lipid Thioesters Derived From Acylated Proteins Accumulate In Infantile Neuronal
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident
http://www.pnas.org/cgi/content/abstract/93/19/10046

Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Lu, J.-Y. Articles by Hofmann, S. L. Vol. 93, Issue 19, 10046-10050, September 17, 1996 Biochemistry Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase Jui-Yun Lu, Linda A. Verkruyse, and Sandra L. Hofmann Department of Internal Medicine and the Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235-8593 Communicated by Joseph L. Goldstein, The University of Texas Southwestern Medical Center, Dallas, TX, July 9, 1996 (received for review June 18, 1996) Palmitoyl-protein thioesterase is a lysosomal long-chain fatty acyl hydrolase that removes fatty acyl groups from modified cysteine residues in proteins. Mutations in palmitoyl-protein
Disruption Of PPT1 Or PPT2 Causes Neuronal Ceroid Lipofuscinosis In Knockout Mic
The neuronal ceroid lipofuscinoses (NCLs) are a distinct class of A Mouse Model of Classical LateInfantile neuronal ceroid lipofuscinosis Based on
http://www.pnas.org/cgi/content/full/98/24/13566

Extractions: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: Disruption of or causes neuronal ceroid lipofuscinosis in knockout mice Praveena Gupta Abigail A. Soyombo Armita Atashband Krystyna E. Wisniewski John M. Shelton James A. Richardson Robert E. Hammer , and Sandra L. Hofmann The Hamon Center for Therapeutic Oncology Research and Division of Cardiology, Department of Internal Medicine, Departments of Pathology and Biochemistry, and the Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390; Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314; and State University of New York/Health Science Center, Brooklyn, NY 11203
Disruption Of PPT1 Or PPT2 Causes Neuronal Ceroid Lipofuscinosis In Knockout Mic
The neuronal ceroid lipofuscinoses (NCLs) are a distinct class of lysosomal PPT, palmitoyl protein thioesterase. NCL, neuronal ceroid lipofuscinosis
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=1171742
The Gene Mutated In Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6)
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive Santavuori P (1988) neuronal ceroid lipofuscinosis in childhood.
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=384927
A Mouse Model Of Classical Late-Infantile Neuronal Ceroid Lipofuscinosis Based O
A Mouse Model of Classical LateInfantile neuronal ceroid lipofuscinosis Based on Targeted Disruption of the CLN2 Gene Results in a Loss of
http://www.jneurosci.org/cgi/content/abstract/24/41/9117

Extractions: The Journal of Neuroscience, October 13, 2004, 24(41):9117-9126; doi:10.1523/JNEUROSCI.2729-04.2004 This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map 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: A Mouse Model of Classical Late-Infantile Neuronal Ceroid Lipofuscinosis Based on Targeted Disruption of the CLN2 Gene Results in a Loss of Tripeptidyl-Peptidase I Activity and Progressive Neurodegeneration David E. Sleat, Jennifer A. Wiseman, Mukarram El-Banna, Kwi-Hye Kim, Qinwen Mao, Sandy Price, Shannon L. Macauley, Richard L. Sidman

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