81. Haltia Research Group and characterization of novel inherited neurodegenerative disorders, startingwith the description of infantile neuronal ceroidlipofuscinosis (INCL) and http://www.hi.helsinki.fi/hi/res/haltia/haltia.html

Haartman Institute Research Programs Matti Haltia MOLECULAR PATHOGENESIS OF NEURODEGENERATIVE DISEASES Professor of Neuropathology Phone: +358-9-1912 6337 Fax: +358-9-1912 6700 E-mail: Matti.J.Haltia@Helsinki.Fi Scientific Personnel Sari Kiuru Anders Paetau Graduate students: Tuomo Polvikoski Jaana Suopanki Auli Verkkoniemi Undergraduate student: Liisa Myllykangas Research Interests Identification and characterization of novel inherited forms of neurodegenerative diseases. Such diseases may serve as keys in identifying the crucial molecules and metabolic pathways of interest in the pathogenesis of more common acquired neurodegenerative diseases, such as late-onset Alzheimer's disease. FIGURE LEGEND Research Description Inherited neurodegerative disorders are unique experiments of nature. Their analysis may not only provide clues for prevention and possible treatment, but may also give valuable insights into the normal structure and function of the human nervous system. They may also serve as models for elucidation of more common, acquired neurodegenerative conditions, such as late-onset Alzheimer's disease, and brain aging. Selected publications Haltia, M., Ghiso, J., Prelli, F., Gallo, G., Kiuru, S., Somer, H., Palo, J., Frangione, B. (1990). Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol

82. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Br Conditions Illnesses Brain Nervous System - More Conditions - NeurodegenerativeDiseases - Heredodegenerative Disorders - neuronal ceroid-lipofuscinosis. http://www.zeal.com/category/preview.jhtml?cid=275808

83. Links On Mental Retardation JNLC. ceroid lipofuscinosis, neuronal 3, JUVENILE; CLN3 ,OMIM, USA neuronalceroid lipofuscinosis (CLN), US National Library of Medicine. http://www.saunalahti.fi/kup/engl/links.htm

Finnish Information Center on Mental Retardation (in Finnish) English Links on Mental Retardation A B C D ... Z Aarskog Syndrome Pediatric Database OMIM Database ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, OMIM Acrodysostosis (Arkless-Graham syndrome) acrodysostosis, MCA/MR Syndromes, US NLM Acrodysostosis, UNIVERSITY OF MARYLAND MEDICINE ACRODYSOSTOSIS, OMIM Acrodysostosis, NORD ... Acrodysostosis, Orphanet Aphasia The Family Village Library, Aphasia Page What is Aphasia? AGU Syndrome, Aspartylglucosaminuria ASPARTYLGLUCOSAMINURIA; AGU (OMIM) aspartylglycosaminuria, U.S. National Library of Medicine Alagille Syndrome Alagille syndrome (AGS), U.S. National Library of Medicine ALAGILLE SYNDROME; AGS, OMIM The Official Alagille Syndrome Alliance Worldwide Web Site Alagille Syndrome, GeneClinics Web site Allan-Herndon Syndrome OMIM, MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA Alopecia-Mental Retardation (AMR) Syndrome ALOPECIA-MENTAL RETARDATION SYNDROME, OMIM alopecia-mental retardation (AMR) syndrome, MCA/MR Syndromes, US NLM Alopecia mental retardation syndrome, Orphanet Alternating hemiplegia of childhood Omim Database, Alternating hemiplegia of childhood

84. EMedicine - Neuronal Ceroid Lipofuscinoses : Article By Celia H Chang, MD previously suggested by the clinical phenotypes. Infantile neuronalceroid lipofuscinosis (INCL = CLN1) or SantavuoriHaltia type. http://www.emedicine.com/neuro/topic498.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Neuronal Ceroid Lipofuscinoses Last Updated: February 20, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Batten disease, Parry's disease, Spielmeyer-Sjögren disease, Bielschowsky disease, Kufs disease, Santavuori-Haltia disease AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Celia H Chang, MD , Assistant Professor, Department of Neurology, University of California at Davis Celia H Chang, MD, is a member of the following medical societies: American Academy of Neurology, and Child Neurology Society Editor(s): Beth A Pletcher, MD , Director of Neurofibromatosis Center, Assistant Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine;

85. Gene-Gene Relation In HUMAN GENOME 2045, CLN2, ceroidlipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky,11p15. 2047, CLN4, ceroid-lipofuscinosis, neuronal 4 (Kufs disease), reserved. http://gene.postech.ac.kr/g2g/hugo_list.php?page=21

86. Arch Neurol -- Page Not Found 58;17931798, November 2001, Feasibility of Gene Therapy for Late neuronal CeroidLipofuscinosis, Dolan Sondhi, PhD; Neil R. Hackett, PhD; Robin L. Apblett, BA http://archneur.ama-assn.org/issues/v58n11/rfull/nnt10000.html

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87. Infantil Neuronal Ceroid-lipofuscinos - Små Och Mindre Kända Handikappgrupper Hematopoietic stem cell transplantation in infantile neuronal ceroidlipofuscinosis. Neurology 2001; 57 14111416. Munroe PB et al. http://www.sos.se/smkh/1997-29-023/1997-29-023.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Infantil neuronal ceroid-lipofuscinos INCL (CLN1) Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2002-11-07 HTML-version 4.0 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. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan palmityol-protein-thiosterase, PPT Symtom Diagnostik - DNA-analys av blodprov PPT-enzymet Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation

88. Clinical Science (1986) 71, 57-60 - Marklund SL And Others - Superoxide Dismutas It was recently shown that cerebrospinal fluid from patients with infantile and juvenileneuronal ceroidlipofuscinosis were less protective against superoxide http://cs.portlandpress.com/cs/071/cs0710057.htm

Full Text Author Keywords Title Clinical Science (1986) (Printed in Great Britain) Superoxide dismutase isoenzymes in cerebrospinal fluid and plasma from patients with neuronal ceroid-lipofuscinoses. Marklund SL, Heiskala H, Westermarck T, Santavuori P The neuronal ceroid-lipofuscinoses is a group of diseases characterized by a widespread accumulation in the body of pigments believed to be end-products of lipid-peroxidation damaged organelles. It was recently shown that cerebrospinal fluid from patients with infantile and juvenile neuronal ceroid-lipofuscinosis were less protective against superoxide radical-induced hydroxyl radical formation compared with controls. The content of superoxide dismutase isoenzymes in cerebrospinal fluid and in plasma from patients with different forms of neuronal ceroid-lipofuscinosis was analysed. No significant difference from controls could be demonstrated in samples from patients with juvenile neuronal ceroid-lipofuscinosis. The few samples from patients with infantile and late infantile neuronal ceroid-lipofuscinosis analysed all fell within the range defined by the controls. Immediate Publications Journal home Current issue ET-7 Supplement 48 ... Library recommendation form

89. NORD - National Organization For Rare Disorders, Inc. from NORD's office in Washington, DC. Research. Infantile NeuronalCeroid lipofuscinosis (INCL). At this time, there is no effective http://www.rarediseases.org/nord/research/infantile

Search NORD's Databases NORD maintains three searchable databases and an alphabetical index of disease names. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Organizational Database Find a support group or other source of help. Orphan Drug Designation Database Find out about new and experimental orphan products. Database Subscriptions Subscriptions provide complete access to NORD's databases at libraries, schools, universities, and hospitals. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Infantile Neuronal Ceroid Lipofuscinosis (INCL) At this time, there is no effective treatment available for this genetic disease, which is the infantile form of a group of progressive, neurometabolic diseases. Doctors at the NIH currently are enrolling children between six months and two years of age for participation in a clinical study of the drug Cystagon for INCL. The study takes place at the NIH in Bethesda, Md. All study-related tests and medicines are provided free of charge. For more information about this National Institutes of Health (NIH) study, go to

90. Clinical Study: 01-CH-0086, Pilot Study Of Cystagon As A Potential Therapy For I Title Pilot Study of Cystagon as a Potential Therapy for Infantile neuronal CeroidLipofuscinosis Number 01CH-0086 Summary This study will examine the http://clinicalstudies.info.nih.gov/detail/A_2001-CH-0086.html

Protocol Number: 01-CH-0086 Title: Pilot Study of Cystagon as a Potential Therapy for Infantile Neuronal Ceroid Lipofuscinosis Number: 01-CH-0086 Summary: This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. At around 11 to 13 months of age, patients develop slowed head growth, mild brain atrophy (wasting), electroencephalographic (EEG) changes and retinal deterioration, with symptoms worsening over time. The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL. Children with INCL between 6 months and 3 years of age may be eligible for this study. Participants take Cystagon daily by mouth every 6 hours. They are admitted to the NIH Clinical Center for a 4- to 5-day period every 6 months for the following tests and evaluations: -Review of medical history, including a detailed record of seizures, physical examination, blood tests and clinical photographs. For the initial baseline studies, examinations may also be scheduled with pediatric neurology, ophthalmology and anesthesia services.

91. REPROGEN Back to top. Characterisation of neurological diseases, neuronal ceroidlipofuscinosis in ferrets and globoid cell leukodystrophy in dogs. http://www.vetsci.usyd.edu.au/reprogen/research/genomics/generic2.html

Generic Genomics Establishment of a large capacity genotyping facility for livestock Low cost DNA based technology for identity establishment in livestock Characterisation of neurological diseases, neuronal ceroid lipofuscinosis in ferrets and globoid cell leukodystrophy in dogs Establishment of a large capacity genotyping facility for livestock Personnel ReproGen Dr H Raadsma, A/Prof F Nicholas and Dr C Wise (1998). National collaborators Australian National Genomic Information Service, Sydney. Summary We developed a semi-automatic genotyping facility for genome analyses in livestock utilising a dual LI-COR IR2 DNA sequencer and Biomek 2000 workstation with integrated MJ Research DNA Engine PCR cycler. The primary requirements for the facility were: genotype processing and analysis capacity of at least 150,000 genotypes per year; flexibility to process gel scans for several projects at once; high level of automation; ready access for data analysis and storage; low cost-base for routine genotyping; flexibility to utilise "unlabeled" primers for routine screening; ease of use; and low cost expansion capability. We can currently generate 800 genotypes a day with a single IR2 system (in excess of 175,000 genotypes per year, expandable to 700,000 genotypes per year on a 384-well format). Integration of a UNIX server and a large genome information system (Australian National Genomic Information Service, ANGIS) allows for flexible and high capacity data processing. Source and amount of funding

92. Untitled Document HM Mitchison (1999). The molecular basis of GRODstoring neuronalceroid lipofuscinosis in Scotland. Mol Genet Metab 66 245-247. http://www.ucl.ac.uk/paediatrics/HannahMitchison.htm

Hannah Mitchison B.Sc., Ph.D. Senior Lecturer in Molecular Genetics Research interests: 1. The neuronal ceroid lipofuscinoses (Batten disease) 2. Molecular genetics of primary ciliary dyskinesia Research group: Primary ciliary dyskinesia (PCD): Dr Dharini Jeganathan (Postdoctoral Research Fellow), Dr Rahul Chodhari (Clinical Lecturer) and Dr Eddie Chung (Senior Lecturer). Current Research Projects: The molecular genetics of primary ciliary dyskinesia (Wellcome Trust) Molecular analysis of juvenile onset Batten disease (CLN3; JNCL) Recent and Key publications: AI Brooks, S Chattopadhyay, HM Mitchison, RL Nussbaum, DA Pearce (2003). Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Molecular Genetics and Metabolism L Bartoloni, J-L Blouin, Y Pan, C Gehrig, AK Maiti, N Scamuffa, C Rossier, M Jorissen, M Armengot, M Meeks, HM Mitchison, EMK Chung, CD Delozier-Blanchet, WJ Craigen, SE Antonarakis (2002). Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

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