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  1. 1
    S. Sawcer ; G. Hellenthal ; M. Pirinen ; C. C. Spencer ; N. A. Patsopoulos ; L. Moutsianas ; A. Dilthey ; Z. Su ; C. Freeman ; S. E. Hunt ; S. Edkins ; E. Gray ; D. R. Booth ; S. C. Potter ; A. Goris ; G. Band ; A. B. Oturai ; A. Strange ; J. Saarela ; C. Bellenguez ; B. Fontaine ; M. Gillman ; B. Hemmer ; R. Gwilliam ; F. Zipp ; A. Jayakumar ; R. Martin ; S. Leslie ; S. Hawkins ; E. Giannoulatou ; S. D'Alfonso ; H. Blackburn ; F. Martinelli Boneschi ; J. Liddle ; H. F. Harbo ; M. L. Perez ; A. Spurkland ; M. J. Waller ; M. P. Mycko ; M. Ricketts ; M. Comabella ; N. Hammond ; I. Kockum ; O. T. McCann ; M. Ban ; P. Whittaker ; A. Kemppinen ; P. Weston ; C. Hawkins ; S. Widaa ; J. Zajicek ; S. Dronov ; N. Robertson ; S. J. Bumpstead ; L. F. Barcellos ; R. Ravindrarajah ; R. Abraham ; L. Alfredsson ; K. Ardlie ; C. Aubin ; A. Baker ; K. Baker ; S. E. Baranzini ; L. Bergamaschi ; R. Bergamaschi ; A. Bernstein ; A. Berthele ; M. Boggild ; J. P. Bradfield ; D. Brassat ; S. A. Broadley ; D. Buck ; H. Butzkueven ; R. Capra ; W. M. Carroll ; P. Cavalla ; E. G. Celius ; S. Cepok ; R. Chiavacci ; F. Clerget-Darpoux ; K. Clysters ; G. Comi ; M. Cossburn ; I. Cournu-Rebeix ; M. B. Cox ; W. Cozen ; B. A. Cree ; A. H. Cross ; D. Cusi ; M. J. Daly ; E. Davis ; P. I. de Bakker ; M. Debouverie ; B. D'Hooghe M ; K. Dixon ; R. Dobosi ; B. Dubois ; D. Ellinghaus ; I. Elovaara ; F. Esposito ; C. Fontenille ; S. Foote ; A. Franke ; D. Galimberti ; A. Ghezzi ; J. Glessner ; R. Gomez ; O. Gout ; C. Graham ; S. F. Grant ; F. R. Guerini ; H. Hakonarson ; P. Hall ; A. Hamsten ; H. P. Hartung ; R. N. Heard ; S. Heath ; J. Hobart ; M. Hoshi ; C. Infante-Duarte ; G. Ingram ; W. Ingram ; T. Islam ; M. Jagodic ; M. Kabesch ; A. G. Kermode ; T. J. Kilpatrick ; C. Kim ; N. Klopp ; K. Koivisto ; M. Larsson ; M. Lathrop ; J. S. Lechner-Scott ; M. A. Leone ; V. Leppa ; U. Liljedahl ; I. L. Bomfim ; R. R. Lincoln ; J. Link ; J. Liu ; A. R. Lorentzen ; S. Lupoli ; F. Macciardi ; T. Mack ; M. Marriott ; V. Martinelli ; D. Mason ; J. L. McCauley ; F. Mentch ; I. L. Mero ; T. Mihalova ; X. Montalban ; J. Mottershead ; K. M. Myhr ; P. Naldi ; W. Ollier ; A. Page ; A. Palotie ; J. Pelletier ; L. Piccio ; T. Pickersgill ; F. Piehl ; S. Pobywajlo ; H. L. Quach ; P. P. Ramsay ; M. Reunanen ; R. Reynolds ; J. D. Rioux ; M. Rodegher ; S. Roesner ; J. P. Rubio ; I. M. Ruckert ; M. Salvetti ; E. Salvi ; A. Santaniello ; C. A. Schaefer ; S. Schreiber ; C. Schulze ; R. J. Scott ; F. Sellebjerg ; K. W. Selmaj ; D. Sexton ; L. Shen ; B. Simms-Acuna ; S. Skidmore ; P. M. Sleiman ; C. Smestad ; P. S. Sorensen ; H. B. Sondergaard ; J. Stankovich ; R. C. Strange ; A. M. Sulonen ; E. Sundqvist ; A. C. Syvanen ; F. Taddeo ; B. Taylor ; J. M. Blackwell ; P. Tienari ; E. Bramon ; A. Tourbah ; M. A. Brown ; E. Tronczynska ; J. P. Casas ; N. Tubridy ; A. Corvin ; J. Vickery ; J. Jankowski ; P. Villoslada ; H. S. Markus ; K. Wang ; C. G. Mathew ; J. Wason ; C. N. Palmer ; H. E. Wichmann ; R. Plomin ; E. Willoughby ; A. Rautanen ; J. Winkelmann ; M. Wittig ; R. C. Trembath ; J. Yaouanq ; A. C. Viswanathan ; H. Zhang ; N. W. Wood ; R. Zuvich ; P. Deloukas ; C. Langford ; A. Duncanson ; J. R. Oksenberg ; M. A. Pericak-Vance ; J. L. Haines ; T. Olsson ; J. Hillert ; A. J. Ivinson ; P. L. De Jager ; L. Peltonen ; G. J. Stewart ; D. A. Hafler ; S. L. Hauser ; G. McVean ; P. Donnelly ; A. Compston
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-08-13
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Cell Differentiation/immunology ; Europe/ethnology ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genome-Wide Association Study ; HLA-A Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Immunity, Cellular/genetics/*immunology ; Major Histocompatibility Complex/genetics ; Multiple Sclerosis/*genetics/*immunology ; Polymorphism, Single Nucleotide/genetics ; Sample Size ; T-Lymphocytes, Helper-Inducer/cytology/immunology
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1432-0533
    Keywords:
    Infantile neuronal ceroid-lipofuscinosis ; Gliosis ; Glial filaments ; GFAP ; Vimentin ; Monoclonal antibodies against GFAP ; Polyclonal antibodies against glial filament fraction
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary Extremely severe gliosis develops at the end stage of infantile neuronal ceroid-lipofuscinosis (INCL), a fatal encephalopathy characterized by accumulation of autofluorescent storage material in the brain and other tissues followed by a terminal subtotal neuronal and myelin loss. A major fraction of highly enriched intermediate filaments was obtained with a density gradient centrifugation method from INCL brain tissue, whereas the storage material represented only a minor fraction. SDS-polyacrylamide gel electrophoresis of the filament fraction showed a major protein with molecular weight of 51 kD and three to four polypeptides of 40–48 kD identified as glial fibrillary acidic protein (GFAP) and its degradation products by the immunoblotting technique with monoclonal antibodies against GFAP. Immunization experiments with the isolated INCL glial filament fraction produced antibodies reacting only with GFAP but not with other types of intermediate filament proteins, furthermore indicating a high content of GFAP in the isolated fraction. No significant amounts of vimentin or other types of intermediate filament proteins could be detected. These results document the extremely high content of glial filaments at the terminal stage of INCL and suggest that INCL brain may serve as a good human model for studies on the composition of glial filaments in vivo and on the pathogenesis of gliosis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00686997

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1432-1920
    Keywords:
    Brain, disease ; Brain, infection ; Brain, atrophy ; Brain, CT studies ; Brain, MRI studies ; HIV infection, radiography
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary One hundred and one persons infected with human immunodeficiency virus (HIV-1), in whom other central nervous system infections or diseases were excluded, underwent brain CT and/or MRI at various stages of HIV-1 infection: 29 were asymptomatic (ASX), 35 had lymphadenopathy syndrome (LAS), 17 had AIDS-related complex (ARC), and 20 had AIDS. A control group of 32 HIV-1-seronegative healthy persons underwent brain MRI. The most common finding was brain atrophy, found in 9% of controls, and 31% of ASX cases, 29% of LAS, 59% of ARC and 70% of AIDS. Even the difference between the ASX or LAS groups and controls was significant. The changes were bilateral and symmetrical, and they were more severe at later stages of infection. Infratentorial atrophy was seen in the early stages; supratentorial atrophy became more pronounced at ARC, and generalized atrophy was typical of AIDS. Non-specific small hyperintense foci were found on MRI in 13% of controls and 6–15% of the infected groups. Larger, diffuse, bilateral white matter infiltrates were detected in 4 demented patients with AIDS. Four patients with AIDS and 1 with LAS had focal hyperintense lesions in the internal capsules, lentiform nuclei or thalamus, often bilateral on MRI. One patient with AIDS, examined with CT only, had low density in the lentiform nucleus. Loss of brain parenchyma can occur at an early stage of HIV-1 infection, and the atrophic process becomes more intense at later stages (ARC and AIDS). Parenchymal infiltration, seen as hyperintense areas on MRI, is most often associated with severe clinical symptoms, in the later stages of the disease.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00596333

    Articles: DFG German National Licenses