Geometry.Net - Health_Conditions: Neuronal Ceroid Lipofuscinosis

BENCHMARK Analysis Of Infantile Neuronal Ceroid Lipofuscinosis
BENCHMARK analysis of infantile neuronal ceroid lipofuscinosis, G2D Home. GO TO
http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?010
Neuronal Ceroid Lipofuscinosis
click For Medical Professionals only. neuronal ceroid lipofuscinosis,,Print this article, inherited lysosomal degenerative disease
http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/neuronal ceroid lipofus

Extractions: *For Medical Professionals only, registration required 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.
Short Description Of Cell Lines. Pathology: Amaurotic Family Idiocy, Juvenile Ty
Version 4.200205, Short description of cell lines. Pathology amaurotic familyidiocy, juvenile type/neuronal ceroid lipofuscinosis *204200 OMIM record.
http://www.biotech.ist.unige.it/cldb/pat269.html
Laura Åberg: Uvenile Neuronal Ceroid Lipofuscinosis; Brain-related Symptoms And
University of Helsinki, Helsinki 2001. Juvenile neuronal ceroid lipofuscinosis;brainrelated symptoms and their treatment. Laura Åberg.
http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/aberg/
Tab004mgu: Genetics Of The Neuronal Ceroid Lipofuscinoses (NCLs)
90 Jarvela, I. et al. (1991) Infantile form of neuronal ceroid lipofuscinosis(CLN1) maps to the short arm of chromosome 1. Genomics 9, 170173, PubMed.
http://www-ermm.cbcu.cam.ac.uk/99001386h.htm
Retina International's Scientific Newsletter - Ceroid Lipofuscinosis Loci
CH, Stephenson,JB, and O'Rawe,AM Mutations In The PalmitoylProtein ThioesteraseGene (PPT CLN1) Causing Juvenile neuronal ceroid lipofuscinosis With Granular
http://www.retina-international.org/sci-news/cerlip.htm

Extractions: Goto Top . Mitchison,H.M., Hofmann,S.L., Becerra,C.H.R., Munroe,P.B., Lake,B.D., Crow,Y.J., Stephenson,J.B.P., Williams,R.E., Hofman,I.L., Taschner,P.E.M., Martin,J.J., Philippart,M., Andermann,E., Andermann,F., Mole,S.E., Gardiner,R.M., Orawe,A.M., Becerra,C.H., Stephenson,J.B., and O'Rawe,A.M. Mutations In The Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits. 1998; Hum.Mol.Genet. 7: 291-297.
Neuronal Ceroid Lipofuscinosis Clinical Resources
neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosisAccess document. Pediatric Database (PEDBASE) List of documents
http://baptistnashville-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidos

Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Pediatrics Resources See also General Pediatrics Resources Pediatric Database (PEDBASE) List of documents Genetics Resources See also General Genetics Resources Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Metabolism, Inborn Errors (MeSH browse):
NORD - National Organization For Rare Disorders, Inc.
View Cart/Checkout. Copyright 1997, 1998, 1999 Synonyms of Santavuori Disease CLN1;INCL; Infantile Finnish Type neuronal ceroid lipofuscinosis (Balkan Disease);
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Santavuori Di
UASOM Main Digital Library
Metabolic Disorders. neuronal ceroid lipofuscinosis Patient/Family Resources. Resources;neuronal ceroid lipofuscinosis Clinical Resources. Batten
http://uasom-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batte

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
Silver Hill Hospital Digital Library
neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosisAccess document. Pediatric Database (PEDBASE) List of documents
http://silverhillhospital-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoid

Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Pediatrics Resources See also General Pediatrics Resources Pediatric Database (PEDBASE) List of documents Genetics Resources See also General Genetics Resources Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Metabolism, Inborn Errors (MeSH browse):
Neuronal Ceroid Lipofuscinosis - General Practice Notebook
neuronal ceroid lipofuscinosis. Batten's syndrome is a recessively inheritedneurodegenerative condition involving a lysosomal storage defect.
http://www.gpnotebook.co.uk/cache/2120941619.htm

Extractions: neuronal ceroid lipofuscinosis Batten's syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. It is caused by abnormal storage of cerebral lipofuscins. There are a number of other names that are used to refer to this condition, depending on the age of onset: In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis. The gene involved in this syndrome is on chromosome 16.
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Neuronal+Ceroid-Lipofuscinosis
Similar pages neuronal ceroid lipofuscinosis (CLN) Retardation (MCA/MR) Syndromes. View the Full Record Syndrome, neuronalceroid lipofuscinosis (CLN). Synonym, ceroid lipofuscinosis.
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Neuronal Ceroid-Lipofuscinosis
Literature For Peptidase S53.003
is dependent on tripeptidyl peptidaseI implications for the degradation and storageof peptides in classical late-infantile neuronal ceroid lipofuscinosis.
http://merops.sanger.ac.uk/lit/s53p003_lit.htm
Guam Medical Libraries Digital Libraries Program
Patient/Family Resources by Topic Metabolic Disorders. NeuronalCeroid Lipofuscinosis Patient/Family Resources. Miscellaneous.
http://guam-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
Bibliography
8.Oka A, Kurachi Y, Mizuguchi M, Hayashi M, Takashima S (1998) The expression oflate infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human
http://link.springer-ny.com/link/service/journals/00401/contents/00/00321/paper/

Extractions: 1.Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254 2.Elleder M, Sokolova J, Hrebicek M (1997) Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol 93:379-390 3.Friede RL (1989) Ceroid-lipofuscinosis and miscellaneous lipidoses. In: Developmental neuropathology, 2nd edn. Springer-Verlag, Berlin Heidelberg, pp 448-460 4.Goebel HH, Schochet SS, Jaynes M, Bruck W, Kohlschutter A, Hentati F (1999) Progress in neuropathology of the neuronal ceroid lipofuscinoses. Mol Genet Metab 66:367-372 5.Kimura S, Goebel HH (1987) Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis. Brain Dev 9:576-580 6.Lake BD (1997) Lysosomal and peroxisomal disorders. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology, 6th edn. Arnold, London, pp 668-676 7.Oka A, Takashima S (1997) Induction of cyclo-oxygenase 2 in brains of patients with Down's syndrome and dementia of Alzheimer type: specific localization in affected neurones and axons. Neuroreport 8:1161-1164
Abstract
© SpringerVerlag 2001. Regular Paper. Distribution and development of CLN2protein, the late-infantile neuronal ceroid lipofuscinosis gene product.
http://link.springer-ny.com/link/service/journals/00401/contents/00/00321/s00401

Extractions: Yukiko Kurachi , Akira Oka , Masayuki Itoh , Masashi Mizuguchi , Masaharu Hayashi and Sachio Takashima National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan Department of Pediatrics, University of Tokyo, Tokyo, Japan Division of Child Neurology, Institute of Neurological Sciences, Tottori University, Tottori, Japan Department of Pediatrics, Jichi Medical School, Tochigi, Japan Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan Abstract. Keywords. Distribution - Development - CLN2 - Immunohistochemistry - Immunoblotting E-mail: kurachi@ncnp.go.jp
Batten Publications (Non- UR) - David Pearce Lab Page
Adult neuronal ceroid lipofuscinosis with palmitoylprotein thioesterase deficiencyfirst adult-onset patients of a childhood disease. Ann Neurol.
http://dbb.urmc.rochester.edu/labs/pearce/Battenpub_nonur.html

Extractions: Neurology. 2001 Aug 28 Review. Gardiner RM. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol Sci. 2000 (3 Suppl):S15-9. Review. Delgado-Escueta AV, Ganesh S, Yamakawa K. Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet. 2001 Feb http://www3.interscience.wiley.com/cgi-bin/abstract/85512492/START
Hamon Center - Sandy Hofmann
of a new lysosomal enzyme, palmitoylprotein thioesterase, that is defective ina neuronal degenerative disorder, infantile neuronal ceroid lipofuscinosis.
http://www.swmed.edu/cancer/Labs/Hofmann.htm

Extractions: Sandra.Hofmann@UTSouthwestern.edu Work in the laboratory centers on the role of lipid-metabolizing enzymes in cell metabolism and signal transduction. One major emphasis is on the covalent modification of proteins by the fatty acid palmitate and the study of enzymes that transfer the palmitate on and off modified proteins. This work led to the discovery of a new lysosomal enzyme, palmitoyl-protein thioesterase, that is defective in a neuronal degenerative disorder, infantile neuronal ceroid lipofuscinosis. This disease has been considered to be a model for aging because lipofuscinosis occurs in all tissues with advancing age. Current work involves the enzymology and molecular genetics of this new enzyme and how a deficiency in the thioesterase leads to neuronal death. Selected Publications Camp, L.A., Verkruyse, L.A., Afendis, S.J., Slaughter, C.S. and Hofmann, S.L.
Please Title This Page. (Page 4)
J., Santavuori, P., Hofmann, SL, and Peltonen, L. Mutations in the Palmitoyl ProteinThioesterase Gene Causing Infantile neuronal ceroid lipofuscinosis.
http://www.swmed.edu/home_pages/endocrine/2001projectpage1.html

Extractions: Request for Funding Medical Student Research Fellowship for Summer 2001 Mentor: Sandy Hofmann Department: Internal Medicine/Hamon Center for Therapeutic Oncology Research Room number: NB8.104 Mail Code: 8593 Phone number: 8-4911 E-mail: Sandra.Hofmann@UTSouthwestern.edu Project title: Phenotypic and Biochemical Characterization of PPT2 Deficient Mice Human subjects IRB approved project number (where applicable): n. a. Animal subjects IRB approved project number (where applicable): 0433-00-08-1 Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects) Brief Description of Project: PPT2 (palmitoyl-protein thioesterase-2) is a novel lysosomal fatty-acyl thioesterase recently characterized in the lab. In vitro, it hydrolyzes palmitoyl CoA but its substrates in vivo are unknown. Deficiency in PPT1 produces a neurodegenerative phenotype in mice and humans. We have recently produced mice with a targeted deletion in PPT2. The aim of the project will be to characterize any behavioral or neurological deficits in PPT2 deficient mice and to initiate metabolic labeling studies using tissues from these mice to uncover the physiological substrates for PPT2. Previous Research Activities or Publications with Medical Students: 1. Camp, L.A., and Hofmann, S.L. Purification and Properties of a Palmitoyl-Protein Thioesterase that Cleaves Palmitate from H-Ras. J. Biol. Chem. 268: 22566-22574 (1993).
David Palmer
Mutational analysis of the defective protease in the classical lateinfantileneuronal ceroid lipofuscinosis, a degenerative lysosomal storage disorder.
http://www.lincoln.ac.nz/afs/profiles/palmerd.htm

Extractions: Extn: 8136 Teaching Supervision of Honours and Graduate students in aspects of Batten disease. Research Animal models for human disease, particularly, Batten disease. Neurons have been cultured from sheep for the first time. Those from affected sheep are being used to study the mechanism of degeneration and test therapies. Apoptosis and excitotoxicity are being examined along with the role of neurotrophic factors. Techniques include histology, immunocytochemistry, molecular biology and protein chemistry. The ovine forms of different genes for different forms of Batten disease are being identified and sequenced. This work involves a number of collaborations with workers in New Zealand, Europe, the USA and Japan. Publications Sleat, D.E., Gin, R.M., Sohar, I., Wisniewski, K., Sklower-Brooks, S., Pullarkat, R.K., Palmer, D.N., Lerner, T.J., Boustany, R-M., Uldall, P., Siakotos, A.N., Donnelly, R.J. and Lobel P. 1999. Mutational analysis of the defective protease in the classical late-infantile neuronal ceroid lipofuscinosis, a degenerative lysosomal storage disorder.

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