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  • Articles: DFG German National Licenses  (2)
  • Apolipoprotein E gene  (1)
  • Cerebellar dentate nucleus neuron  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Autosomal dominant diffuse Lewy body disease (1998)
    Springer
    Acta neuropathologica 96 (1998), S. 207-210 
    Details
    ISSN: 1432-0533
    Keywords: Key word Diffuse Lewy body disease ; Apolipoprotein E gene ; Autosomal dominant ; Parkinson’s disease ; Dementia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a Japanese family with parkinsonism and later-onset dementia. The proband developed parkinsonism at the age of 61 years, followed by dementia starting when she was 67. Her uncle, who was also her husband, died at the age of 78 years after 7- and 5-year histories of parkinsonism and dementia, respectively. Pathological examination of these two patients showed marked neuronal loss with Lewy bodies (LBs) in the brain stem pigmented nuclei and numerous cortical LBs and ubiquitin-positive hippocampal CA2/3 neurites were observed. The proband also had many amyloid plaques. Their two sons developed similar parkinsonism at the ages of 39 and 28 years and also suffered later-onset dementia. The apolipoprotein E genotype of the proband, her uncle and one of their sons was ɛ3/4 and that of the other son was ɛ4/4. These findings strongly suggest that this family has autosomal dominant diffuse LB disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050883
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons (1998)
    Springer
    Acta neuropathologica 95 (1998), S. 479-482 
    Details
    ISSN: 1432-0533
    Keywords: Key words Dentatorubral-pallidoluysian atrophy ; Cerebellar dentate nucleus neuron ; Skein-like inclusion ; Ubiquitin ; Amyotrophic lateral sclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We examined the cerebellar dentate nucleus (CDN) in 16 patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), one of the neurodegenerative diseases caused by expansion of a CAG repeat encoding a polyglutamine tract in the disease protein. In all patients, some CDN neurons were found to contain ubiquitinated filamentous inclusions in their cytoplasm. On hematoxylin and eosin preparations, these filamentous inclusions were eosinophilic, basophilic or amphophilic, and were often found in areas of pale cytoplasm. Electron microscopy revealed that they consisted of bundles of filaments that were somewhat thicker than neurofilaments. These features of the present inclusions were indistinguishable from those of skein-like inclusions (SLI) previously described in the lower motor neurons in sporadic amyotrophic lateral sclerosis. We conclude that SLI can also occur in the CDN in DRPLA and believe that they reflect a characteristic pathological process in this disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050828
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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