21. Batten Disease Santavuori as your search term in the Rare Disease Database.) JanskyBielschowsky Disease is the late infantile form of neuronal ceroid lipofuscinosis (NCF). http://www.bchealthguide.org/kbase/nord/nord259.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord259"; var hwDocTitle="Batten Disease"; var hwRank="1"; var hwSectionHWID="nord259"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Batten 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 Batten-Mayou Syndrome Batten-Spielmeyer-Vogt's Disease Batten-Vogt Syndrome Neuronal Ceroid Lipofuscinosis, Juvenile Type Spielmeyer-Vogt Disease Spielmeyer-Vogt-Batten Syndrome Stengel's Syndrome Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Santavouri Disease Jansky-Bielschowsky Disease Kufs Disease General Discussion Batten Disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). It is characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells. This lipopigment storage disorder is inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age. Occurring mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions.

22. Neuronal Ceroid Lipofuscinosis - General Practice Notebook neuronal ceroid lipofuscinosis. Batten s syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. http://www.gpnotebook.co.uk/cache/2120941619.htm

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: Haltia-Santavuori syndrome, for the infantile type Jansky-Bielschowsky syndrome, for the late infantile type Spielmeyer-Vogt syndrome, for the juvenile type 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. Click here for more information...

23. NEJM -- Sign In Correspondence from The New England Journal of Medicine Case 272002 Late-Onset Infantile neuronal ceroid lipofuscinosis. http://content.nejm.org/cgi/content/full/348/21/2159

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

24. 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

Expert Reviews in Molecular Medicine: http://www-ermm.cbcu.cam.ac.uk Accession information: (99)00138-6h.htm (shortcode: tab004mgu); 10 December 1999 Reprint/PDF version Discussion Group Back to main article Genetics of the neuronal ceroid lipofuscinoses (NCLs) Louise Bate and Mark Gardiner Author contact details Table 4. Genetics of the neuronal ceroid lipofuscinoses (NCLs) (tab004mgu) Type of NCL Age of onset and Refs Infantile GROD ; 1p32; lysosomal palmitoyl-protein thioesterase (PPT), which removes lipid from proteins during their degradation. Late infantile (classical) CVB Finnish late infantile Variant late infantile FPP or CVB Turkish variant late infantile FPP or CVB Late infantile with GROD ; 1p32; lysosomal PPT, which removes lipid from proteins during their Juvenile Variant juvenile Progressive epilepsy with mental retardation FPP or CVB or GROD Abbreviations used: CVB = curvilinear body; FPP = fingerprint profile; GROD = granular osmophillic deposits.

25. The Neuronal Ceroid Lipofuscinoses (NCLs) 9th International Congress on neuronal ceroid lipofuscinosis (Batten Disease). 9th International Congress on neuronal ceroid lipofuscinosis (Batten Disease). http://www.ucl.ac.uk/paediatrics/ncls.htm

The neuronal ceroid lipofuscinoses (NCLs) Mutations in at least eight genes are now known or predicted to cause NCL, a group of neurodegenerative disorders of children. The human NCL research group is led by Dr Sara Mole. Postdoctoral research fellow Dr Sandra Codlin joined the team in October 2002 to use the fission yeast Schizosaccharomyces pombe as a unicellular model system for NCL and PhD student Morwenna Porter continued work on the nematode worm model which has a simple nervous system. Dr Hannah Mitchison continues work on the mouse model. Late infantile NCL – CLN6 Following on from the identification of as a 311 amino acid protein predicted to sit in a membrane, in total fourteen mutations that cause disease were delineated. Work continued to focus on the biology of CLN6 in collaboration with Prof Dan Cutler of the MRC-LMCB, UCL. Antisera was raised against synthetic peptides from two locations in the protein. All antisera bound to a protein in the endoplasmic reticulum (ER) of HEK293 cells and no significant colocalisation was seen with markers for other organelles such as the ER-Golgi intermediate compartment, the Golgi apparatus, early endosomes or lysosomes. This indicates that CLN6 is a resident protein of the ER. All antisera recognized a 30 kDa protein on western blotting, with one looking particularly promising for the development of a screening assay for patients with variant late infantile NCL carrying mutations in the

26. Untitled Document 1998. Mutations in the palmitoylprotein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. http://www.ucl.ac.uk/paediatrics/SaraMole.htm

Sara E Mole B.A., Ph.D. Senior Lecturer in Molecular Genetics Research interests: The neuronal ceroid lipofuscinoses (NCL), or Batten disease, are the most common neurodegenerative disorders of childhood. They are characterised by progressive blindness and neurodegeneration and the accumulation of autofluorescent material (ceroid and lipofuscin) in neurons and other cell types. Most are inherited in an autosomal recessive manner. My main interest lies in identifying the genes defective in all types of NCL and elucidating their function. Six human genes have been identified so far, and one additional gene has been identified in a naturally occurring animal model. Four of the genes encode soluble proteins which are found in the lysosome (CTSD, CLN1/PPT1, CLN2/TPPI, CLN5), and three encode proteins predicted to be part of a membrane (CLN3, CLN6, CLN8). Research Group: Current members are Dr Sandra Codlin (Postdoctoral Research Fellow), Dr Yannick Gachet (Postdoctoral Research Fellow), Ms Morwenna Porter (Research Student) and Ms Yella Martin (Research Student). Former members include Dr Ruth Wheeler, Dr Julie Sharp, Mr Wayne Mitchell, Dr Kit-Yi Leung, Dr Patricia Munroe, Dr Hannah Mitchison, Dr Angela O'Rawe, Ms Treasa Creavin, Mr Jaimie Greenham.

27. 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 http://www.diseasesdatabase.com/ddb31534.htm

Diseases Database Index Sponsors Contact ... Previous Page Ceroid lipofuscinosis, neuronal 3, juvenile Information Search 5 synonyms or equivalents were found. Ceroid lipofuscinosis, neuronal 3, juvenile aka/or Juvenile neuronal ceroid lipofuscinosis aka/or Batten-Mayou disease aka/or Batten's disease aka/or Batten-Spielmeyer-Vogt disease may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Ceroid lipofuscinosis, neuronal 3, juvenile: specific sites Send Ceroid lipofuscinosis, neuronal 3, juvenile to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 01:11:43 Metadata Updated 2004-05-22

28. Santavuori Disease - Quest Diagnostics Patient Health Library by this report. Synonyms. CLN1; INCL; Infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis Type 1; Infantile Type http://www.questdiagnostics.com/kbase/nord/nord1090.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord1090"; var hwDocTitle="Santavuori Disease"; var hwRank="1"; var hwSectionHWID="nord1090"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Santavuori 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 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

29. Kufs Disease - Quest Diagnostics Patient Health Library Generalized Lipofuscinosis; neuronal ceroid lipofuscinosis, Adult Type. Disorder Subdivisions. None. General Discussion. Kufs Disease http://www.questdiagnostics.com/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="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; 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 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.

30. Short Description Of Cell Lines. Pathology: Amaurotic Family Idiocy, Juvenile Ty Version 4.200205, Short description of cell lines. Pathology amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis *204200 OMIM record. http://www.biotech.ist.unige.it/cldb/pat269.html

Version Short description of cell lines. Pathology: amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

31. PharmGKB: Neuronal Ceroid-Lipofuscinosis Adult; Neuronal Ceroid Lipofuscinoses; neuronal ceroid lipofuscinosis; Santavuori Haltia Disease; SantavuoriHaltia Disease; Spielmeyer Vogt Disease; Spielmeyer http://www.pharmgkb.org/do/serve?objId=PA445110&objCls=Disease

32. (13[4]:574-581) Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: A Novel (134574581) Autosomal Dominant Adult neuronal ceroid lipofuscinosis a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein http://brainpath.medsch.ucla.edu/abstracts/vol13/1304/1304a13.htm

Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency Electron microscopy showed ample intraneuronal granular osmiophilic deposits (GRODs), as occurs in CLN1 and congenital ovine NCL. These forms of NCL are caused by the deficiencies of palmitoyl protein thioesterase 1 and cathepsin D, respectively. However, activities of these enzymes were within normal range in our patients. Thus we propose that a gene distinct from the cathepsin D and CLN1-CLN8 genes is responsible for this autosomal dominant form of ANCL. (Download PDF file: 920 KB) (Download Zip file: 908 KB)

33. Penn State Faculty Research Expertise Database (FRED) , Lipofuscinoses. neuronal ceroid lipofuscinosis, Santavuori Haltia Disease.......Faculty Research Expertise Database. Neuronal CeroidLipofuscinosis. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009472

34. Entrez PubMed Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase. http://www.biomedcentral.com/pubmed/10965052

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order J Biochem (Tokyo). 2000 Sep;128(3):509-16. Related Articles, Links Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase. Ezaki J, Takeda-Ezaki M, Kominami E.

35. Entrez PubMed Click here to read Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta P, Soyombo AA, Atashband http://www.biomedcentral.com/pubmed/11717424

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13566-71. Related Articles, Links Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL.

36. Retina International's Scientific Newsletter - Ceroid Lipofuscinosis Loci neuronal ceroid lipofuscinosis Adult Type, Kufs Disease, CLN4, 204300, PPT, 600722, ar, 1p32. D1S211, (16). neuronal ceroid lipofuscinosis http://www.retina-international.org/sci-news/cerlip.htm

Disease Database Ceroid Lipofuscinosis Recent update from: 26.02.04 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Ceroid-lipofuscinosis neuronal 1 infantile INCL GROD PPT ar Ceroid-lipofuscinosis neuronal 2 infantile ar Ceroid-lipofuscinosis neuronal 3 Batten disease Spielmeyer-Vogt-Sjögren disease JCNL ar West Germany 0.71 per 100,000 live births Neuronal Ceroid Lipofuscinosis Adult Type, Kufs Disease PPT ar Neuronal Ceroid Lipofuscinosis, Finnish Variant, Late Infantile ar 1:12,500 live births Ceroid-lipofuscinosis neuronal 6 late infantile ar [6 cM D15S1020 [4 cM -D15S988 -D15S983] -D15S1000] Blindness Seizures Cognitive decline MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A., Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., and Jarvela,I. Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. 1991; Am.J.Hum.Genet. 49: 1372-1377. Link to PubMed Goto Top Claussen,M., Heim,P., Knispel,J., Goebel,H.H., and Kohlschutter,A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. 1992; Am.J.Med.Genet. 42: 536-538.

37. Palmitoyl Protein Thioesterase: Implications For Infantile Neuronal Ceroid Lipof protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons implications for infantile neuronal ceroid lipofuscinosis (INCL). http://www.uku.fi/neuro/ab0185.htm

U K U N E U R O S C I E N C E P U B L I C A T I O N S Lehtovirta M, Kyttälä A, Eskelinen EL, Hess M, Heinonen O, Jalanko A. Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet 2001;10:69-75 Abstract

38. MRI Of Neuronal Ceroid Lipofuscinosis. I. Cranial MRI Of 30 Patients With Juveni Julkaisu. Reference. Autti T, Raininko R, Vanhanen SL, Santavuori P. MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients http://www.uku.fi/wwwdata/julkaisutoiminta/julkaisut/1996/9601530.html

Julkaisu Reference Autti T, Raininko R, Vanhanen SL, Santavuori P. MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal lipofuscinosis. Neuroradiology Julkaisutiedot Julkaisutyyppi: Alkuperäisartikkeli. Kansainvälinen. Kieli: Englanti. Publication data Publication type: Original scientific article. International. In English. Tekijät Contributors Kuopion yliopisto Kliinisen radiologian laitos Raili Raininko University of Kuopio Department of Clinical Radiology Raili Raininko Julkaisutietokanta Publications Data Base

39. 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/

University of Helsinki, Helsinki 2001 Juvenile neuronal ceroid lipofuscinosis; brain-related symptoms and their treatment Laura Åberg Academic Dissertation, September 2001. University of Helsinki, Faculty of Medicine, Department of Child Neurology and Department of Radiology As a PDF file ISBN 952-10-0123-2 Last update 28.8.2001/TL

40. CEROID Danish. arvelig amaurotisk idioti (Batten disease, neuronal ceroid lipofuscinosis). amaurotisch idiotisme (Batten disease, neuronal ceroid lipofuscinosis). http://www.websters-online-dictionary.org/definition/english/Ce/Ceroid.html

Philip M. Parker, INSEAD. CEROID Specialty Definition: CEROID Domain Definition Health A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions. ( references Source: compiled by the editor from various references ; see credits. Top Crosswords: CEROID Specialty definitions using "CEROID" Hermanski-Pudlak Syndrome Lipofuscin references Top Commercial Usage: CEROID Domain Title Books The Neuronal Ceroid Lipofuscinoses (Batten Disease) ( reference Lipofuscin and Ceroid Pigments (Advances in Experimental Medicine and Biology, 266) ( reference (more book examples) Source: compiled by the editor from various references ; see credits. Top Expressions: CEROID Hyphenated Usage Beginning with "CEROID": CEROID-LIPOFUSCINOSIS, Ceroid-Lipofuscinosis. Source: compiled by the editor from various references ; see credits. Top Frequency of Internet Keywords: CEROID The following statistics estimate the number of searches per day across the major English-language search engines as identified by various trade publications. Hyperlinks lead to commercial use of the expression at Amazon.com

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20