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  • 1
    Electronic Resource
    Electronic Resource
    Abnormal auditory evoked potentials in Déjérine-Sottas disease (1984)
    Springer
    Journal of neurology 231 (1984), S. 46-49 
    Details
    ISSN: 1432-1459
    Keywords: Hereditary motor sensory neuropathy ; Déjérine-Sottas disease ; Auditory evoked potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über zwei Fälle von hereditärer motorischer und sensorischer Neuropathie vom Typ-III (Déjérine-Sottas-Krankheit) berichtet, welche otoneurologisch und elektrophysiologische eingehend untersucht wurden. In beiden Fällen fand man Hinweise dafür, daß die vestibulären und akkustischen zentralen Bahnen mitbetroffen sind. Dies läßt darauf schließen, daß bei dieser Erkrankung die Myelinstrukturen nicht nur in den peripheren Nerven sondern auch im Zentralorgan betroffen sein können.
    Notes: Summary Two cases of hereditary motor sensory neuropathy type III (Déjérine-Sottas disease) examined by audiological, vestibular and electrophysiological methods are reported. In both cases there were signs of vestibular and acoustic central pathway involvement, shown by vestibular examination and by the study of auditory evoked potentials. The presence of central involvement in this hereditary neuropathy suggests central as well as peripheral myelin alteration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313652
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Friedreich's ataxia I. Clinical, Neurophysiological and in vivo biochemical studies (1979)
    Springer
    Neurological sciences 1 (1979), S. 231-238 
    Details
    ISSN: 1590-3478
    Keywords: Friedreich's ataxia ; Neuropathy ; Pyruvate test ; Lipoamide dehydrogenase ; Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Si presenta uno studio clinico, neurofisiologico e biochimico di 18 pazienti con diagnosi presuntiva di atassia di Friedreich. I dati portano ad inquadrare nella malattia di Friedreich tipica solo 14 pazienti, gli altri 4 si differenziano per diversi aspetti clinici di cui il più rilevante è la normalità cardiaca. Si conclude quindi che per giungere alla diagnosi di malattia di Friedreich che permetta in seguito uno studio biochimico della malattia, sia necessario un approccio multidisciplinare.
    Notes: Abstract Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients: the remaining 4 patients differed from the typical patients in several respects but mainly in the cardiological findings. It is concluded that so far no single clinical or laboratory finding is typical of F.A.. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02336703
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Friedreich's ataxia II. Biochemical studies in cultured cells (1979)
    Springer
    Neurological sciences 1 (1979), S. 239-243 
    Details
    ISSN: 1590-3478
    Keywords: Pyruvate-dehydrogenase ; Carnitine-acetyltransferase ; Glutamate-dehydrogenase ; Friedreich's ataxia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario L'ossidazione del piruvato e del palmitato misurata nei fibroblasti in cultura di pazienti affetti da malattia di Friedreich è risultata normale. Il dosaggio del complesso enzimatico piruvico deidrogenasi è invece risultato significativamente diminuito rispetto ai controlli nelle cellule di questi pazienti quando i fibroblasti venivano omogenizzati in glicerolo. Questa diminuzione però non era più evidente se le cellule venivano sonicate. Questi dati suggeriscono che il deficit del complesso PDH nei pazienti con atassia di Freidreich non sia un difetto primario ma rifletta piuttosto anomalie di membrana.
    Notes: Abstract Pyruvate and palmitate oxidations by cultured fibroblast suspensions were measured in optimized conditions and proved to be with normal range in the cells from Friedreich's patients. But when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity Km and Vmax were within the normal range in Friedreich's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia but are more likely to be related to membrane abnormalities in Friedreich's cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02336704
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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