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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

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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

Extractions: 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.
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

Extractions: 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
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

Extractions: 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 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
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

Extractions: 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
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

Extractions: 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.
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

Extractions: 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. 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.
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
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
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
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

Extractions: 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
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
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
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
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
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

Extractions: 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 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
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/
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/
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

Extractions: 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
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

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 Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Yoshikawa, M Articles by Sasaki, S GENES CELLS (2002)
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

Extractions: 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.

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