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  • Purkinje cell  (4)
  • Cytochrome P-450  (2)
  • Nephrosialidosis  (2)
  • Ultrastructure  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 72 (1987), S. 349-354 
    ISSN: 1432-0533
    Keywords: Macular mutant mouse ; Menkes kinky hair disease ; Golgi study ; Purkinje cell ; Copper metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This study was undertaken to elucidate, using the Golgi method, the neuropathological change in the brain of the macular mutant mouse, whose hemizygote (Ml/y) is considered to be a model of Menkes kinky hair disease (MKHD). The hemizygote mice gradually lost weight after 10 days of age and died with emaciation and seizure around day 15. The normal littermate (+/y) was well developed. In the cerebrum, the arborization of pyramidal neurons in the layer V of the Ml/y was the same as that in the +/y on day 10. However, development of arborization in the Ml/y was delayed in comparison with that in the +/y on days 12 and 14. Purkinje cells with several somal sprouts were observed in the cerebellum in both the Ml/y and +/y on day 7. The somal sprouts in the +/y had regressed gradually by day 12, while they were still in the anterior and middle lobes of the Ml/y on day 14. Additionally, the trunks of Ml/y stem dendrites became thicker and a cactus formation was recognized on the branching portion of the dendrites on day 14. Arborization of these abnormal Purkinje cells was distinctly poor compared with that in the +/y. These results suggest that the growth of the neurons is delayed in the Ml/y and simultaneously their cytoskeletal developments are disturbed, especially in the Purkinje cells. There is a close similarity in many respects to the neuropathological change in MKHD.
    Type of Medium: Electronic Resource
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  • 2
    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
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 76 (1988), S. 606-612 
    ISSN: 1432-0533
    Keywords: Macular mouse ; Menkes kinky hair disease ; Copper therapy ; Golgi study ; Purkinje cell
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This study was undertaken to elucidate the clinical and neuropathological effects of copper administration on the macular mutant mouse. Its hemizygote, which is considered to be a model of Menkes kinky hair disease (MKHD), was injected intraperitoneally four times with 10, 20, 20 and 30 μg of cupric chloride on days 4, 6, 8 and 10, respectively. The hemizygote's curly whiskers gradually straightened and the frequent tonic seizures and ataxia disappeared after the injections. The body weight also gradually increased. In the cerebral cortex, the dendritic arborization of the pyramidal neurons in both the normal littermate and the treated hemizygote developed with time and reached the maximum around day 60. In the treated hemizygote, however, the arborization of the dendrites was significantly poor in comparison with that in the normal littermate from day 20 to 90. In the cerebellum of the treated hemizygote, the abnormal Purkinje cells with the few somal sprouts, thick stem dendrite and/or poor arborization, which were seen in the non-treated hemizygote, were improved by day 30, while their focal dendritic swellings remained even on day 60. These results indicate that the copper therapy improves not only the clinical manifestations but also the neuropathological changes, especially in the cerebellum.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0533
    Keywords: Synapse ; Dentritic spine ; Purkinje cell ; Neuronal compensation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This study was undertaken to elucidate morphological changes in the synaptic area of the Purkinje cell dendritic spines when granule cells were decreased in number. The mice were injected s. c. with 30 mg/kg b. w. of cytosine arabinoside on days 2, 3, and 4, and on days 7, 8 and 9, and were designated as group I and group II, respectively. The mice injected with saline on days 2, 3, and 4 served as control. The cerebella of the mice in each group were examined by electron microscopy on days 30, 60, and 90. Using photographs thus obtained, the synaptic length and area of Purkinje cell dendritic spines which participated in synapses with axons of granule cells were measured by computer. In the controls, these spines did not increase significantly either in synaptic length or in spine area in the duration from 30 to 90 days after birth. In the 90-day-old mice belonging to group I and group II, however, they increased by about 20% in the synaptic length and by about 35% in the spine area as compared to those in age-matched control. The elongation and enlargement show that the synaptic surface on the spine spreads to compensate for synapses lost by reduction in number of granule cells in experimental groups.
    Type of Medium: Electronic Resource
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  • 5
    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
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 59 (1983), S. 41-47 
    ISSN: 1432-0533
    Keywords: Cytosine arabinoside ; Cerebellum ; External granular layer ; Purkinje cell ; Heterotopic granule cell
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This study was undertaken to elucidate the relationship between the time of destruction of the external granular layer and subsequent cerebellar abnormalities. Mice were injected s. c. with 30 mg/kg body weight (b. wt.) of cytosine arabinoside on days 2, 3, and 4, on days, 4, 5, and 6, on days 7, 8, and 9, and on days 10, 11, and 12, and designated as group I, II, III, and IV, respectively. In group I, disarrangement of Purkinje cells and heterotopic granule cells in the molecular layer were observed on all lobes of cerebellum. Heterotopic granule cells were seen on all lobes in group II, whereas disarrangement of Purkinje cells was observed only in the region from the anterior to middle lobes. In group III, heterotopic granule cells were limited to the area from anterior to middle lobes, but there was no disarrangement of Purkinje cells. Group IV cerebellum did not show abnormal cytoarchitecture. Golgi-Cox studies showed abnormal arborization of Purkinje cells in each experimental group. They were arbitrarily classified into inverted Purkinje cells, lying Purkinje cells, T-shaped Purkinje cells, and poorly arborized Purkinje cells. The earlier the postnatal treatment the more severe were the abnormalities of Purkinje cell dendrite. According to the electron-microscopic study, some glomerular synaptic complexes, which are normally confined to the internal granular layer, were observed even in the molecular layer in groups I, II, and III. Some of the Purkinje cell dentritic spines did not make synapses with parallel fibers in any of the experimental groups. The results indicate that severity of abnormal arborization of Purkinje cells is dependent on the period of destruction of the external granular layer. Formation of heterotopic granule cells was dependent on the destruction of the external granular layer up to day 10 after birth.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0533
    Keywords: Ultrastructure ; Fetus ; Nervous system ; GM1-gangliosidosis type 1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The nervous system of a 22-week-old fetus with GM1-gangliosidosis type 1 was studied by electron microscopy. The tissues thus examined were the cerebral cortex at the parietal region, the cerebellum, the thoracic spinal cord, the Auerbach's myenteric plexus in the large intestine and the radial nerve fibers. In the cerebral cortex, membrane-bound vacuoles, which occasionally contained stacks of fine fibrils, were observed in the large young neurons in the deeper part of the cortical plate. The neurons in the other part of the cerebral cortex carried no storage materials. In the cerebellum, the membrane-bound vacuoles with stacks of fine fibrils were seen only in the Purkinje cells. The neurons in the spinal cord also contained several zebra-like bodies and the above membrane-bound vacuoles. As for the peripheral nervous system (PNS), neurons in the Auerbach's myenteric plexus carried membranous cytoplasmic bodies and zebra-like bodies. Some of the axons in the radial nerve fibers also contained a lot of pleomorphic electron-dense bodies and a few membranous cytoplasmic ones. These results show that the accumulation of storage materials is started in the large neurons which are produced in the early stage of neurogenesis in the central nervous system (CNS). Additionally, the observed membrane-bound vacuoles are considered to be structures which occur before the membranous cytoplasmic bodies and/or the zebra-like bodies. It is also elucidated that the PNS is affected earlier than the cerebral and cerebellar cortices and thoracic spinal cord.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0878
    Keywords: Non-ciliated tracheal cell ; Smooth endoplasmic reticulum ; Ultrastructure ; Cytochrome P-450 ; Immunohistochemistry ; Mouse
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Non-ciliated SER-rich cells of the tracheal epithelium of normal, phenobarbital-treated and 3-methylcholanthrene-treated mice were studied ultrastructurally and immunohistochemically. The apical portion of these cells protrudes into the tracheal lumen, especially in the mice treated with the two compounds, and the apical cytoplasm is filled with numerous tubular elements of SER. Besides, the non-ciliated cells of 3-methylcholanthrene-treated mice show a strong positive reaction to the antiserum against microsomal cytochrome P-450 of liver. These findings support the concept that the non-ciliated tracheal cell may be involved in the metabolism of endogeneous and exogeneous chemical compounds.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-0878
    Keywords: Smooth endoplasmic reticulum ; Cytochrome P-450 ; Testis ; Ovary ; Immunohistochemistry ; Mouse
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The testis and ovary of normal and 3-methylcholanthrene-treated mice were studied ultrastructurally and immunohistochemically in order to learn whether steroid-secreting cells of the gonads are involved in drug metabolism. The steroid-secreting cells, i.e., Leydig cells of the testis, and theca interna cells, interstitial gland cells, and corpus luteum cells of the ovary of 3-methylcholanthrene-treated mice, show a strong positive reaction to the antiserum against, hepatic microsomal cytochrome P-450, of liver which is the terminal oxidase of the drug-metabolizing enzyme complex. In addition, it was found that elements of smooth endoplasmic reticulum (SER) in drug-treated mice become well developed as compared with those in control animals. These findings indicate that the steroid secreting cells in testis as well as ovary are involved in the metabolism of both endogenous and exogenous chemical compounds.
    Type of Medium: Electronic Resource
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