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  • 1
    Electronic Resource
    Electronic Resource
    Giant axonal neuropathy (1987)
    Springer
    Acta neuropathologica 73 (1987), S. 138-144 
    Details
    ISSN: 1432-0533
    Keywords: Giant axonal neuropathy ; Intermediate filaments ; Rosenthal fibers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Giant axonal neuropathy (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, ataxia, and dementia. Pathological hallmarks of the disease include axonal swellings packed with neurofilaments in both peripheral and central nervous systems, and accumulations of intermediate filaments in Schwann cells, fibroblasts, melanocytes, endothelial, and Langerhans cells. Rosenthal fibers, sometimes appearing in masses and mimicking Alexander's disease, emerge as a conspicuous characteristic in longstanding GAN.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00693779
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Diffuse deposition of immunohistochemically labeled prion protein in the granular layer of the cerebellum in a patient with Creutzfeldt-Jakob disease (1991)
    Springer
    Acta neuropathologica 82 (1991), S. 536-540 
    Details
    ISSN: 1432-0533
    Keywords: Creutzfeldt-Jakob disease ; Prion protein ; Intracellular accumulation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Amyloid plaques in Creutzfeldt-Jakob discase, kuru, and Gerstmann-Sträussler-Scheinker syndrome are known to contain an abnormal isoform of a cellular protein, the prion protein (PrP). The prion protein in its normal cellular isoform is a membranebound glycoprotein of unknown function. The mechanisms causing a modification of PrP and accumulation in amyloid plaques are unknown. Here we present a case of Creutzfeldt-Jakob disease with widespread deposition of immunohistochemically labeled PrP in the internal granular layer of the cerebellum. Immunohistochemically labeled PrP was deposited in delicate granules, which often were associated with cellular processes or the cytoplams of undefined cells, or diffusely deposited in the neuropil.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293392
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue (1994)
    Springer
    Acta neuropathologica 89 (1994), S. 96-98 
    Details
    ISSN: 1432-0533
    Keywords: Key words     Prion ; Creutzfeldt-Jakob disease ; Codon 178 mutation ; Human prion protein gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050220
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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