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  • 1
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Key words Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Die Aktivität der Nucleasen im Zentralnervensystem der Ratte (1969)
    Springer
    Acta neuropathologica 12 (1969), S. 42-49 
    Details
    ISSN: 1432-0533
    Keywords: Enzyme-Histochemistry ; Nucleases ; DNase ; RNase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die alkalischen und sauren Nucleasen und Phosphatasen wurden im normalen Zentralnervensystem der Ratte histochemisch untersucht. Es wurde festgestellt, daß das histochemische Bild der Nucleasen und der entsprechenden Phosphatasen sehr verschieden ist. Die alkalischen Nucleasen waren nur im Ependymepithel, im Liquor, in Plexuskernen und in der Arachnoidea aktiv. Die sauren Nucleasen waren besonders aktiv in fast allen Nervenzellen, welche, wie allgemein bekannt, niemals oder sehr selten zu bösartigen Geschwülsten entarten. Man kann daher die Frage aufwerfen, ob nicht die niedrige saure Nucleasenaktivität ein prädisponierender Faktor für die neoplasmatische Entartung sein könnte.
    Notes: Summary Alkaline and acid nucleases and phosphatases in the central nervous system of the Wistar rat have been histochemically examined. It has been observed that the pattern of the nucleases was different from that of the corresponding phosphatases. The alcaline nucleases have been found positive in the ependymal cells, the cerebrospinal fluid, the arachnoid membrane and in the nuclei of the choroid plexus. The acid nucleases demonstrated an intensively positive reaction mainly in all neuronal cells, which, as it is generally accepted, are not at all or very seldom transformed into malignant neoplasms. From the last observation the question arises whether the deficient acid nucleases reaction might be considered as a predisposing factor of malignant transformation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685309
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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