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  • Articles: DFG German National Licenses  (4)
  • Nephrosialidosis  (2)
  • Purkinje cells  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Pathological study on a severe sialidosis (α-neuraminidase deficiency) (1986)
    Springer
    Acta neuropathologica 71 (1986), S. 278-284 
    Details
    ISSN: 1432-0533
    Keywords: Severe sialidosis ; α-Neuraminidase deficiency ; Neuropathology ; Congenital ascites ; Nephrosialidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron microscope studies showed that neurons in the cerebral and cerebellar corticies, and the thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were found only in the neurons of the spinal cord. The neurons in the paraganglion and in the Auerbach's myenteric plexus were also distended with numerous membrane-bound vacuoles. Hepatocytes, endothelial cells and Kupffer cells in the liver and glomerular and tubular epithelial cells in the kidney were swollen with a number of vacuoles although the patient showed none of the clinical features of renal involvement. These pathological changes were similar to those in nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819–829 (1978)].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688050
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Cerebellar changes of the female mice heterozygous for brindled gene (1986)
    Springer
    Acta neuropathologica 69 (1986), S. 220-226 
    Details
    ISSN: 1432-0533
    Keywords: Brindled mouse ; Kinky hair disease ; Heterozygotes ; Purkinje cells ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The brindled mutation is an X-linked neurological mutation in mice. Male mice hemizygous for the brindled gene have metabolic defects homologous with kinky hair disease in humans. Neuropathologically, the mutation is characterized by extensive neuronal degeneration associated with pronounced mitochondrial changes in cerebral cortex and abnormal arborization of Purkinje cell dendrites, which are most pronounced in the rostral vermis or anterior lobules. In the cerebellum of female mice heterozygous for brindled gene, Purkinje cells with abnormal dendritic arborization and with unusually enlarged mitochondria were also observed. Morphological changes in affected Purkinje cells in young heterozygotes were similar to those of young hemizygotes. However, in older heterozygotes, the changes were far less conspicuous, indicating the presence of some extrinsic factor(s) to compensate expression of the mutant gene in heterozygous brains.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688297
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Maturation of Purkinje cells in mouse cerebellum after neonatal administrations of cytosine arabinoside (1978)
    Springer
    Acta neuropathologica 44 (1978), S. 41-45 
    Details
    ISSN: 1432-0533
    Keywords: Cytosine arabinoside ; Cerebellum ; External granular layer ; Purkinje cells ; Synaptogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary ICR-JCL strain mice were injected subcutaneously with 30 mg/kg body weight of cytosine arabinoside at 2, 3, and 4 days of age. This chemical prevented the production of the basket cells, stellate cells, and granule cells in the external granular layer of the cerebellum. Decrease in number of these microneurons affected the normal synaptic connections between the Purkinje cells and the microneurons, thus causing the disarrangement and abnormal arborization of the Purkinje cells. Of the three types of microneurons, the basket and a few stellate cells played a more important role in the disarrangement of the Purkinje cells and abnormal arborization of their primary dendrites than the granule cells did. Abnormal outgrowing directions of other smooth dendrites of the Purkinje cells were caused mainly by the diminution of stellate cells. Although parallel fibers were grossly decreased in number in the treated cerebellums, spines of the spiny dendrites of the Purkinje cells sprouted considerably in the 15-day-old mice, and then their morphological features remained even after 100 days of age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691637
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    A severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1 (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 295-298 
    Details
    ISSN: 1432-1076
    Keywords: β-Galactosidase ; α-Neuraminidase ; Sialidosis ; Nephrosialidosis ; GM1-Gangliosidosis type 1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We observed a 3-month-old Japanese female infant with severe psychomotor retaration, coarse facial appearance, hepatosplenomegaly, and dysostosis multiplex. Only β-galactosidase was found to be deficient when the routine lysosomal hydrolase assay was performed on the patient's lymphocytes at 6 months of age. At first GM1-gangliosidosis type 1 seemed the most likely diagnosis. Later, however, additional studies (hydrolase assay in cultured skin fibroblasts, urinary oligosaccharide analysis, genetic complementation study, etc.) revealed that biochemical data of this case were in agreement with those of severe infantile sialidosis. The only important exception was that α-neuraminidase in the patient's lymphocytes showed normal activity but abnormal pH dependence toward 4-methylumbellyferyl substrate. In addition, a severely damaged kidney suggested that his case may be classified as a unique type of severe infantile sialidosis (possible nephrosialidosis). These observations stress the importance of careful biochemical diagnosis of a case with GM1-gangliosidosis type 1 phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442667
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    Paper (German National Licenses)
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