61. Haema/Áßìá We had the opportunity to study a patient with juvenile neuronal ceroid lipofuscinosis,who had morphological alterations in his polymorphonuclear cells and http://www.mednet.gr/eae/haema/h24-5.htm

HAEMA (ÁÉÌÁ) The Journal of the Hellenic Society of Haematology Journal's Home Page Volume 1, Issue 1 Volume 1, Issue 2 Volume 1, Issue 3 ... Volume 2, Issue 4 4 Papdiamantopoulou str. 115 28 Athens Greece Tel.-FAX: +30210 7211806 E-mail: eae@hol.gr A juvenile ceroid lipofuscinosis - like disease associated with Alder's anomaly: an ultrastructural study R. Straussberg , R. Weitz , H. Bessler Child Neurology Unit, Schneider Children Medical Center of Israel, Laboratory for Haematology Research and Electron Microscopy Unit, Rabin Medical Center Golda Campus, Petah Tiqva and the Sackler School of Medicine, Tel Aviv University, Israel. Haema 1999; 2(4): 206-210 Abstract. The ultrastructural features of the white blood cells from an 18 year old patient with juvenile ceroid lipofuscinosis (Batten's disease) are described. The most prominent finding was the decrease in granular content in the polymorphonuclear cells and the presence of numerous vacuoles in the lymphocytes, a part of them filled with lipid material. Some polymorphonuclears contained large granules with amorphous structure. These findings are consistent with those observed in Alder's anomaly. The difference from that anomaly and the abnormal findings in the white blood cells from patients with Batten's disease is discussed. Key words: Alder's anomaly • juvenile ceroid lipofuscinosis • Batten's disease • white blood cells • ultrastructure.

62. Clinical Neuropathology, 3/00 Adult neuronal ceroid lipofuscinosis (Kufs’ disease) in two siblings of an Irishfamily. C. Callagy 1 , G. O’Neill 1 , SF Murphy 2 and MA Farrell 1,2. http://www.clinnephrol.com/dustri/32neuropathology/32NP0003.HTM

CLINICAL NEUROPATHOLOGY Volume 19, No. 3 (2000) Review Regular papers correlation to survival time and histopathological malignancy grading R. Becker, J. Rohlfs, R. Jennemann, H. Wiegandt, H.-D. Mennel, B.L. Bauer................................ Primary nodular meningeal glioma mimicking metastatic tumor of the cerebellum with diffuse infra- and supratentorial leptomeningeal spread M. Sell, T. Mitrovics and B.C. Sander........................................................................................................ GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma P.E. North, A. Mizeracki, M.C. Mihm, Jr. and R.E. Mrak........................................................................ Short reports Ependyma-lined cysts Z. Williams, M.K. Herrick and V. Tse........................................................................................................... Calf pseudohypertrophy in a patient with double neurogenic pathology G. Donato, P. Valentino, M. Santucci, A. Amorosi, M. Pittelli, L. Maltese, G. Volpentesta, A. Lavano, D. Chirchiglia, A.N. Iannello, G. Ferraro and C.D. Signorelli............................................

63. The Contact A Family Directory - Index N see Ichthyosis Neural Tube Defect see Spina Bifida Neuroblastoma Neurofibromatosisneuronal ceroid lipofuscinosis Type 1 (infantile) see Batten Disease http://www.cafamily.org.uk/Idx/n.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. NAGS Deficiency see Urea Cycle Disorders NARP see Mitochondrial Cytopathies and Related Disorders NBCCS see Gorlin Syndrome N-acetyl glutamate synthase see Urea Cycle Disorders Naevus Flammus see Vascular Birthmarks Nager Syndrome Nail-Patella Syndrome Narcolepsy ... Necrotising Fasciitis Nemaline Myopathy see Muscular Dystrophy and neuromuscular disorders Neonatal Death see Stillbirths and Neonatal Deaths Neonatal Haemochromatosis see Liver Disease Neonatal Hepatitis see Liver Disease Neonatal Hypoglycemia-Visceromegaly-Macroglossia-Microcephaly see Beckwith-Wiedemann Syndrome Nephrogenic Diabetes Insipidus see Pituitary Disorders Nephronopthisis see Kidney Disease Nephrotic Syndrome see Kidney Disease Netherton's Syndrome see Ichthyosis Neural Tube Defect see Spina Bifida Neuroblastoma Neurofibromatosis Neuronal Ceroid Lipofuscinosis Type 1 (infantile) see Batten Disease Neuronal Ceroid Lipofuscinosis Type 2 (late infantile) see Batten Disease Neuronal Ceroid Lipofuscinosis Type 3 (juvenile) see Batten Disease Neuropathy, Ataxia and Retinitis Pigmentosa see

64. WebMD/Lycos - Article Infantile Acquired Aphasia Infantile Epileptic Encephalopathy Infantile Finnish Typeneuronal ceroid lipofuscinosis (Balkan Disease) Infantile Gaucher Disease http://webmd.lycos.com/NR/internal.asp?GUID={AB28CFEF-1C4F-44D6-ADFF-476F4BEDBFF

65. EC 3.4.14.9 Deficient in classical lateinfantile neuronal ceroid lipofuscinosis braintissue. Belongs in peptidase family S53 (pseudomonapepsin family). http://www.chem.qmw.ac.uk/iubmb/enzyme/EC3/4/14/9.html

IUBMB Enzyme Nomenclature EC 3.4.14.9 Common name : tripeptidyl-peptidase I Reaction : Release of an N-terminal tripeptide from a polypeptide, but also endopeptidase activity Other names : tripeptidyl aminopeptidase; tripeptidyl peptidase Comments : A lysosomal enzyme that is active at acidic pH. Deficient in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Belongs in peptidase family S53 (pseudomonapepsin family). Formerly included in EC 3.4.14.8, tripeptidyl peptidase. Links to other databases BRENDA EXPASY MEROPS , CAS registry number: 151662-36-1 References 1. Ezaki, J., Tanida, I., Kanehagi, N. and Kominami, E. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene ( ) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase. J. Neurochem. 72 (1999) 2573-2582. [Medline UI: 2. Rawlings, N.D. and Barrett, A.J. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta

66. American Roentgen Ray Society The Answer is neuronal ceroid lipofuscinosis. Discussion Questions 1.The following are true regarding neuronal ceroid lipofuscinosis http://www.arrs.org/edu/caseofweek/pediat/pediat98/cow98_0105/98_0105d.html

document.write(""+dayarray[day]+", "+montharray[month]+" "+date+", "+year+"") American Roentgen Ray Society Case of the Week - Discussion January 5, 1998 S. M. Davis, M. Castillo, D. Armao Departments of Radiology and Pathology, University of North Carolina School of Medicine, Chapel Hill, NC The Answer is: Neuronal Ceroid Lipofuscinosis Discussion: The various forms of Neuronal Ceroid Lipofuscinoses comprise one of the most frequent neurodegenerative storage disorders occurring in infancy and childhood. In general there are four subtypes of the disease: infantile, late infantile, juvenile and adult, each with characteristic neurologic signs and symptoms. The disorders have an autosomal recessive mode of inheritance in infants, children and adults and rarely, an autosomal dominant mode of inheritance in adults. Although the four subtypes are nonallelic, they share the same basic clinical and pathological presentations. Neurologic signs include ataxia, choreoathetosis, stereotyped hand movements, muscular hypotonia, epilepsy, visual failure, and irritability. In NCL histologic examination reveals abnormal storage material which fills neuronal perikarya and oftentimes extends into the proximal axon. A striking feature of this disease is the yellow green autofluorescence of storage granules. Ultrastructural analysis is of major import as it discloses abundant lysosome-like structures with electron dense material and curvilinear structures. The etiology of these structures is not completely known however, "direct protein sequencing established that the major component is identical to the dicyclohexylcarbodiimide (DCCD) reactive proteolipid, subunit c, of mitochondrial ATP synthase and that this protein accounts for at least 50% of the storage body mass".

67. HONselect - Neuronal Ceroid-Lipofuscinosis Translate this page English neuronal ceroid-lipofuscinosis, - Batten Disease - ceroid-lipofuscinosis,neuronal - Jansky-Bielschowsky Disease - Kufs Disease - Spielmeyer-Vogt http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Neuronal Ceroid-Lipofuscinosis - Batten Disease - Ceroid-Lipofuscinosis, Neuronal - Jansky-Bielschowsky Disease - Kufs Disease - Spielmeyer-Vogt Disease - Adult Neuronal Ceroid Lipfuscinosis Français: CEROIDE LIPOFUSCHINOSE NEURONALE Deutsch: Neuronale Zeroidlipofuszinose - Batten-Krankheit - Dollinger-Bielschowsky-Syndrom - Kuf-Syndrom - Spielmeyer-Vogt-Krankheit - Zeroid-Lipofuszinose, neuronale - Ceroid-Lipofuszinose Español: LIPOFUSCINOSIS CEROIDE NEURONAL - ENFERMEDAD DE BATTEN - LIPOFUSCINOSIS NEURONAL CEROIDE - ENFERMEDAD DE JANSKY-BIELSCHOWSKY - ENFERMEDAD DE KUFS - ENFERMEDAD DE SPIELMEYER-VOGT Português: LIPOFUSCINOSE CEROIDE NEURONAL - DOENCA DE BATTEN - LIPOFUSCINOSE NEURONAL CEROIDE - DOENCA DE JANSKY-BIELSCHOWSKY - DOENCA DE KUFS - DOENCA DE SPIELMEYER-VOGT HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

68. Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Battens Disease) Juvenile neuronal ceroidlipofuscinosis. Until recently young people with Juvenile Batten's Disease in Britain have had http://www.seeability.org/randd/jb.htm

Home Donations Stop Press Contacts ... Site Map Juvenile Batten's Main Page Overview Care in Partnership GPs Leaflet Nurses leaflet ... Research Juvenile Neuronal Ceroid-Lipofuscinosis Until recently young people with Juvenile Batten's Disease in Britain have had nowhere that caters specifically for them. SeeAbility now provide a residential and day activity centre for young people with this disease together with an information network, database and support group. We have also produced a range of literature and research documents to help health professionals, parents and carers, which you can find on these web pages or printed versions are available on request, these include: (please note some of these research documents are large and may take some time to download) an Overview research document Care in Partnership , a study in to the social care needs of young people with Juvenile Batten's disease and their families, an Information leaflet for Parents and Carers an Information leaflet for General Practitioners an Information leaflet for Nurses - the latter stages of the disease For further information please contact Sarah Kenrick, Manager, Heather House, Heather Drive

69. Viral-mediated Delivery Of The Late-infantile Neuronal Ceroid Lipofuscinosis Gen Research Article. Viralmediated delivery of the late-infantile neuronalceroid lipofuscinosis gene, TPP-I to the mouse central nervous system. http://www.nature.com/cgi-taf/DynaPage.taf?file=/gt/journal/v10/n1/full/3301843a

70. (6[3]:225-228) Neuronal Ceroid-Lipofuscinosis - Late-Infantile Or Jansky-Bielsch "amaurotic familial idiocy" really had neuronal ceroid lipofuscinosis of the late-infantile or Jansky-Bielschowsky type, http://brainpath.medsch.ucla.edu/abstracts/vol6/0603/63A3.HTM

Neuronal Ceroid-Lipofuscinosis - Late-Infantile or Jansky-Bielschowsky Type - Revisited Hans H. Goebel, Lieselotte Gerhard, Eiki Kominami, Matti Haltia

71. GeneReviews: Neuronal Ceroid-Lipofuscinosis Your browser does not support HTML frames so you must view neuronal ceroidLipofuscinosisin a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/ncl/?Lng=GB

72. (6[3]:225-228) Neuronal Ceroid-Lipofuscinosis - Late-Infantile Or Jansky-Bielsch (63225228) neuronal ceroid-lipofuscinosis - Late-Infantile or Jansky-BielschowskyType - Revisited Hans H. Goebel, Lieselotte Gerhard, Eiki Kominami, Matti http://www.brainpathology.com/abstracts/vol6/0603/63A3.HTM

Neuronal Ceroid-Lipofuscinosis - Late-Infantile or Jansky-Bielschowsky Type - Revisited Hans H. Goebel, Lieselotte Gerhard, Eiki Kominami, Matti Haltia

73. MeSH-D Terms Associated To MeSH-C Term Neuronal Ceroid- MeSHD terms associated to MeSH-C term neuronal ceroid-lipofuscinosis,G2D Home. The number indicates the strength of the association http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Neuronal_Ceroid-Lipofuscinosis:res

74. Short Description Of Cell Lines. Pathology Neuronal Ceroid- Version 4.200205, Short description of cell lines. Pathology neuronalceroidlipofuscinosis infantile Finnish type 256730 OMIM record. http://www.biotech.ist.unige.it/cldb/pat134.html

75. REFINED GENETIC-MAPPING OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS ON CHRO Detailed Record. Journal Title REFINED GENETICMAPPING OF JUVENILE-ONSETNEURONAL ceroid-lipofuscinosis ON CHROMOSOME-16. Author(s http://www.genome.uci.edu/journalview.asp?num=65

76. Dorlands Medical Dictionary ceroidlipofuscinosis, neuronal ceroid-lipofuscinosis, a term for several geneticlipidoses of diverse biochemical and clinical characteristics, all http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

77. Orthoguide.com Neuronal Ceroid-Lipofuscinosis Search results for neuronal ceroidlipofuscinosis . NO MATCHES FOUND-Pleaseselect a different keyword or category OR Search AltaVista http://www.orthoguide.com/ortho/Neuronal_Ceroid-Lipofuscinosis.php3

Search results for "Neuronal Ceroid-Lipofuscinosis" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Neuronal Ceroid-Lipofuscinosis' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

78. REPROGEN Back to top. Characterization and development of a DNA test for the diagnosisof neuronal ceroidlipofuscinosis in Merino sheep. Personnel http://www.vetsci.usyd.edu.au/reprogen/research/genomics/ovine.html

Ovine Genomics DNA markers for milk, meat and wool genes Genetic characterisation of high resistance to internal parasites in Indonesian Thin Tail sheep Molecular genetic characterisation of immune responsiveness in sheep Characterization and development of a DNA test for the diagnosis of neuronal ceroid-lipofuscinosis in Merino sheep DNA markers for milk, meat and wool genes Personnel ReproGen Dr H Raadsma, A/Prof F Nicholas, M Jones, G Attard, D Palmer and A Smith. National collaborators Dr Peter Speck and Mr Malcolm Fleet, SARDI, Turretfield SA. Summary Source and amount of funding ARC Industry collaborative grant - 1996-1998 $504,000. Location Department of Veterinary Clinical Science, University of Sydney (Camden); Dept Animal Science, University of Sydney and Awassi Aust., Cowra. Back to top Genetic characterisation of high resistance to internal parasites in Indonesian Thin Tail sheep Personnel ReproGen Dr H Raadsma, A Smith and G Attard. National collaborators A/Prof Terry Spithill and Dr Piedrafita, Monash University, Clayton Vic. International collaborators Ir Endang Tri Margawati-LIPI, Bogor Indonesia, Dr Subandriyo and Dr Ismeth Inouno, Balitnak Bogor Indonesia; Drs Endah Estininingh and Drs Yanti Wiedosari, Balitvet, Bogor, Indonesia.

79. Neurogenetics 1 ceroid lipofuscinosis, neuronal, dominant, Parry Type. 2 ceroid lipofuscinosis,neuronal 1, infantile ( Santavuori of SantavuoriHaltia Disease ). http://www.homepages.hetnet.nl/~b1beukema/ziekneurogen.html

Neurogenetics ; Stoornissen betreffende ceroid lipofuscine Neurogenetics : Huntington Disease Huntington disease Prion Diseases : Creutzfeldt-Jakob Disease Kuru Gerstmann-Sträussler-Scheinker Syndrome Stoornissen betreffende Ceroid Lipofuscine : Ceroid Lipofuscinosis, neuronal, dominant, Parry Type Ceroid Lipofuscinosis, neuronal 1, infantile Santavuori of Santavuori-Haltia Disease Ceroid Lipofuscinosis, neuronal 2, late infantile Jansky Bielschowsky Disease Ceroid Lipofuscinosis, neuronal 3, juvenile Vogt-Spielmeyer Disease Ceroid Lipofuscinosis, neuronal 4 Kufs Disease Ceroid Lipofuscinosis, neuronal 5 Ceroid Lipofuscinosis, juvenile neuronal, with granular osmiophilic deposits Ceroid Lipofuscinosis, neuronal 6, late infantile, variant Ceroid Lipofuscinosis, neuronal, 8 Hoofdmenu Indeling stofwisselingsziekten Oren; Ogen; Huid; Ingewanden Andere, niet eerder genoemde stoornissen, met een progressieve neurologische en mentale achteruitgang. Stoornissen met meervoudige aangeboren misvormingen.

80. Search By Disease Records 106 120 106 ceroid lipofuscinosis, neuronal 2, late infantiletype (CLN2). 107 ceroid lipofuscinosis, neuronal 3, juvenile (CLN3). http://www.eddnal.com/directory/disease.php?letter=C&page=8

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