41. Neuronal Ceroid Lipofuscinosis Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/NEURONAL CEROID

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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. GS The Encyclopaedia of Medical Imaging Volume VI 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

42. Arch Neurol -- Abstract: Feasibility Of Gene Therapy For Late Neuronal Ceroid Li Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by intracellular accumulation of http://archneur.ama-assn.org/cgi/content/abstract/58/11/1793

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 58 No. 11, November 2001 Featured Link E-mail Alerts Neurotherapeutics Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Sondhi D Crystal RG ISI Web of Science (4) Contact me when this article is cited Topic Collections Genetic Counseling/ Testing/ Therapy Topic Collection Alerts Feasibility of Gene Therapy for Late Neuronal Ceroid Lipofuscinosis Dolan Sondhi, PhD Neil R. Hackett, PhD Robin L. Apblett, BA Stephen M. Kaminsky, PhD Robert G. Pergolizzi, PhD Ronald G. Crystal, MD Arch Neurol. Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by intracellular accumulation of autofluorescent material resembling lipofuscin in neuronal cells. This report summarizes the new therapies

43. Arch Neurol -- Abstract: Neuronal Ceroid Lipofuscinosis. Diagnosis By Semithin P neuronal ceroid lipofuscinosis. Diagnosis by semithin plasticembedded neuronal ceroid lipofuscinosis is an important diagnostic consideration in a http://archneur.ama-assn.org/cgi/content/abstract/39/5/308

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 39 No. 5, May 1982 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Curless RG Flynn JT Contact me when this article is cited Neuronal ceroid lipofuscinosis. Diagnosis by semithin plastic-embedded sections of peripheral blood lymphocytes from a patient with a normal blood smear R. G. Curless, J. C. Parker Jr and J. T. Flynn Neuronal ceroid lipofuscinosis is an important diagnostic consideration in a school-aged child with progressive blindness. Neurologic symptoms and signs may appear late, and the retinopathy is not specific. Ultrastructural abnormalities have been demonstrated in many body tissues, but skin has been claimed to be the most reliable. Light and electron microscopic

44. Enhanced Abstract Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to http://www.crossref.org/01company/demos/wiley/humu63003542e.html

Enhanced Abstract Online ISSN: 1098-1004 Print ISSN: 1059-7794 Human Mutation Volume 14, Issue 3, 1999. Pages: 199-215 Published Online: 2 Sep 1999 setISSN("1098-1004") setISSN("1059-7794") Mutation Update Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in , and Sara E. Mole , Hannah M. Mitchison, Patricia B. Munroe Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom email: Sara E. Mole ( s.mole@ucl.ac.uk Correspondence to Sara E. Mole, Department of Paediatrics, Royal Free and University College Medical School, University College London, Gower Street Campus, The Rayne Institute, 5 University Street, London WC1E 6JJ, United Kingdom; Fax: 44-171-209-6103 setDOI("ADOI=10.1002/(SICI)1098-1004(1999)14:33.0.CO;2-A") Keywords neuronal ceroid lipofuscinosis; NCL; CLN1; CLN2; CLN3; CLN4; CLN5; CLN6; CLN7; CLN8; Batten disease; neurodegeneration Abstract The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultrastructural characterisation of the storage material, and chromosomal location of the disease gene. At least eight genes underlie the NCLs, of which four have been isolated and mutations characterised: Received: 12 February 1999; Accepted: 25 May 1999

45. Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Late Infantile neuronal ceroid lipofuscinosis (LINCL) is one of a group of As a group, the childhood neuronal ceroid lipofuscinoses are the most common http://www.mun.ca/biology/dmarshall/One Pager.htm

The Evolutionary History of the LINCL Gene in the Founder Population of Newfoundland H. Dawn Marshall and Steven M. Carr Department of Biology Memorial University of Newfoundland Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is one of a group of hereditary neurodegenerative disorders described worldwide and characterized by the intralysosomal accumulation of autofluorescent lipopigments known as ceroid-lipofuscin. This condition presents in children between the ages of 2 and 4 years old as seizures followed by the onset of progressive dementia and early death. As a group, the childhood neuronal ceroid lipofuscinoses are the most common pediatric neurodegenerative diseases, with an estimated incidence of 1/100,000 in the general population. The incidence is higher in genetically homogeneous populations such as the Finnish (estimated incidence 5/100,000) and may be as much as 20/100,000 in the island population of Newfoundland (Andermann et al LINCL follows an autosomal recessive pattern of inheritance involving mutations in the CLN2 gene (11p15.5, MIM 204500; Liu et al.

46. Baylor Neurology Case Of The Month Late Infantile neuronal ceroid lipofuscinosis (LINCL) Adult neuronal ceroid lipofuscinosis with palmitoylprotein thioesterase deficiency first http://www.bcm.edu/neurology/challeng/pat71/summary.html

Patient #71 Summary and Discussion Shari Rosen-Schmidt, M.D. Diagnosis: Neuronal Ceroid Lipofuscinosis CLINICAL SUMMARY: DISCUSSION: The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited, severe neurodegenerative disorders manifested pathologically by accumulation of autofluorescent lipopigments, ceroid and lipofuscin, in lysosomes in tissues of the CNS and to a lesser extent in peripheral tissues. Clinically, these disorders are characterized by progressive visual loss leading to blindness, seizures, and psychomotor deterioration. Some of these disorders also have polymyoclonus or myoclonus as major manifestations. The overall frequency of NCL is about 1.2 per 100,000 live births, making them the most common of the lysosomal storage diseases. However, in certain regions such as Finland, the frequency of the infantile form can be as high as 7.7 per 100,000 live births. All of the disorders are inherited in an autosomal recessive pattern, except for a rare adult-onset form that is autosomal dominant. Infantile Neuronal Ceroid Lipofuscinosis (INCL) INCL, or Haltia-Santavouri disease, has the earliest age of onset and is the most severe of the classic four NCL subtypes. In this disorder, seizures usually begin in the first year, followed by loss of developmental milestones, ataxia, hypotonia, and blindness caused by retinal degeneration and optic atrophy. Death usually occurs by age 10.

47. Penn State Faculty Research Expertise Database (FRED) Lipofuscinosis, Neuronal Ceroid, Neuronal Ceroid Lipfuscinosis, Infantile neuronal ceroid lipofuscinosis, Santavuori Haltia Disease http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009472

48. Development Of A Molecular Diagnostic Test For Neuronal Ceroid Development of a Molecular Diagnostic Test for neuronal ceroid lipofuscinosis (Batten Disease). Dr. Zafar Nawaz CCMG Fellow Molecular Genetics Laboratory http://www.uofa-medical-genetics.org/news/article.php?article=95

49. The EyePathologist Disease - N neuronal ceroid lipofuscinosis infantile Finnish form - Klintworth, Gordon K. neuronal ceroid lipofuscinosis type II - Klintworth, Gordon K. http://www.eyepathologist.com/LIST.ASP?Title=N

50. SimulConsult Cases Blog: Neuronal Ceroid Lipofuscinosis Cases Blog neuronal ceroid lipofuscinosis any laboratory testing, Juvenile neuronal ceroid lipofuscinosis is the clear leader among the diagnoses. http://simulconsult.com/neurologicalsyndromes/reports/baylor71.html

Cases Blog: Neuronal Ceroid Lipofuscinosis 2002 Baylor College of Medicine Department of Neurology Case #71 ( History and Physical and Differential Diagnosis An 8 year old, "mildly mentally retarded " Caucasian girl presents to the Texas Children's Hospital with progressive worsening of gait This patient presented with childhood onset of developmental delay followed by psychomotor regression seizures , and optic atrophy . Organomegaly was not evident on examination, nor was there a clear family history. MR imaging demonstrated diffuse cortical atrophy. Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes. Click here to see the result in the software with all the findings combined together. Even without any laboratory testing, Juvenile Neuronal Ceroid Lipofuscinosis is the clear leader among the diagnoses. Individual registration (free) or institutional access (free) is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students. If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please

51. Neuronal Ceroid-lipofuscinosis 4 Neuronal ceroidlipofuscinosis 4. CLN4. Kufs disease. NCL. neuronal ceroid lipofuscinosis, adult type. Neuroleptic malignant syndrome in Kufs disease http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=620

52. Juvenile Neuronal Ceroid Lipofuscinosis KEY WORDS neuronal ceroid lipofuscinosis, clinical, radiological findings. Clinical classification of neuronal ceroidlipofuscinosis subtypes. http://med.ege.edu.tr/norolbil/2004/NBD30804.htm

53. Juvenile Neuronal Ceroid Lipofuscinosis Juvenile neuronal ceroid lipofuscinosis Clinical and radiological findings Neuronal ceroid lipofuscinoses, one of the causes of progressive myoclonus http://med.ege.edu.tr/norolbil/2004/2004_4_50.htm

54. BENCHMARK Analysis Of Infantile Neuronal Ceroid Lipofuscinosis Disease mapped infantile neuronal ceroid lipofuscinosis Chromosome 1 Genomic position startstop 47000001-78000000 length 31000000 Band 1p32 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?010

55. Neuronal Ceroid-lipofuscinosis (Batten's Disease): Relationship To Amaurotic Fam Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein Hum. Mol. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses http://pediatrics.aappublications.org/cgi/content/abstract/44/4/570

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Zeman, W. Articles by Dyken, P. Pediatrics, Oct 1969, 570-583, Vol 44, No. 4 Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? W Zeman and P Dyken Division of Neuropathology, Indiana Medical Center, Indianapolis, Indiana 46202. ABSTRACT. From the conditions generically classified as amaurotic familial idiocy, two distinctly different groups have emerged. One is characterized by grossly abnormal profiles for cerebral sphingolipids and consists of G(M1)-gangliosidosis and G(M2)-gangliosidosis or Tay-Sachs disease. The other group is composed of cases with normal sphingolipid profiles, but with neuronal accumulation of lipopigments of the ceroid/lipofuscin type

56. Tarja Salonen: Molecular And Cellular Biology Of Infantile Neuronal Ceroid Lipof Molecular and cellular biology of infantile neuronal ceroid lipofuscinosis (INCL). Tarja Salonen. Academic Dissertation, December 2001. http://ethesis.helsinki.fi/julkaisut/mat/bioti/vk/salonen/

University of Helsinki, Helsinki 2001 Molecular and cellular biology of infantile neuronal ceroid lipofuscinosis (INCL) Tarja Salonen Academic Dissertation, December 2001. University of Helsinki, Department of Biosciences, Faculty of Science and National Public Health Institute, Department of Molecular Medicine. As a PDF file (ISBN 951-740-243-0) - 1889 kB

57. Liina Lonka: Neuronal Ceroid Lipofuscinosis CLN8 - From Gene To Protein neuronal ceroid lipofuscinosis CLN8 from gene to protein. Liina Lonka. Academic Dissertation, October 2004. University of Helsinki, Faculty of Medicine, http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/lonka/

University of Helsinki, Helsinki 2004 Neuronal ceroid lipofuscinosis CLN8 - from gene to protein Liina Lonka Academic Dissertation, October 2004. University of Helsinki, Faculty of Medicine, Haartman Institute and Folkhälsan Institute of Genetics and Neuroscience Center and Graduate School in Biotechnology and Molecular Biology. As a PDF file (ISBN 952-10-2127-6) - 763 kB Last updated 30.01.2004/Liina Lonka

58. Viral-mediated Delivery Of The Late-infantile Neuronal Ceroid Lipofuscinosis Gen Classical lateinfantile neuronal ceroid lipofuscinosis (LINCL) is caused by mutations in tripeptidyl peptidase I (TPP-I), a pepstatin-insensitive lysosomal http://www.nature.com/doifinder/10.1038/sj.gt.3301843

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics January 2003, Volume 10, Number 1, Pages 34-42 Table of contents Previous Abstract Next Full text PDF Research Article Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system R E Haskell , S M Hughes , J A Chiorini , J M Alisky and B L Davidson Program in Gene Therapy, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, IA, USA National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Program in Gene Therapy, Department of Neurology, University of Iowa College of Medicine, Iowa City, IA, USA Correspondence to: BL Davidson, Roy J. Carver Professor in Internal Medicine, 200 EMRB, University of Iowa College of Medicine, Iowa City, IA 52252, USA The first two authors contributed equally Abstract Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is caused by mutations in tripeptidyl peptidase I (TPP-I), a pepstatin-insensitive lysosomal protease, resulting in neurodegeneration, acute seizures, visual and motor dysfunction. In vitro studies suggest that TPP-I is secreted from cells and subsequently taken up by neighboring cells, similar to other lysosomal enzymes. As such, TPP-I is an attractive candidate for enzyme replacement or gene therapy. In the present studies, we examined the feasibility of gene transfer into mouse brain using recombinant adenovirus (Ad), feline immunodeficiency virus (FIV) and adeno-associated virus (AAV) vectors expressing TPP-I, after single injections into the striatum or cerebellum. A dual TPP-I- and

59. CLC-3 Deficiency Leads To Phenotypes Similar To Human Neuronal Ceroid Lipofuscin by an abnormality in the machinery which degrades the cellular protein and was associated with the phenotype of neuronal ceroid lipofuscinosis (NCL). http://www.genestocellsonline.org/cgi/content/abstract/7/6/597

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: 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 Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Yoshikawa, M Articles by Sasaki, S GENES CELLS (2002) Blackwell Publishing or its licensors Original Article CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis M Yoshikawa, S Uchida, J Ezaki, T Rai, A Hayama, K Kobayashi, Y Kida, M Noda, M Koike, Y Uchiyama, F Marumo, E Kominami, and S Sasaki This article has been cited by other articles: T. J. Jentsch, T. Maritzen, and A. A. Zdebik Chloride channel diseases resulting from impaired transepithelial transport or vesicular function J. Clin. Invest., August 1, 2005; 115(8): 2039 - 2046. [Abstract] [Full Text] [PDF] D. Kasper, R. Planells-Cases, J. C Fuhrmann, O. Scheel, O. Zeitz, K. Ruether, A. Schmitt, M. Poet, R. Steinfeld, M. Schweizer, U. Kornak, and T. J Jentsch

60. Retina International's Scientific Newsletter - Ceroid Lipofuscinosis Loci neuronal ceroid lipofuscinosis Adult Type, Kufs Disease, CLN4, 204300, PPT, 600722 neuronal ceroid lipofuscinosis, Finnish Variant, Late Infantile, CLN5 http://www.retina-international.com/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.

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