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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 227 (1982), S. 239-247 
    ISSN: 1432-1459
    Keywords: Focal dystonia ; Segmental dystonia ; Generalized dystonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Fünfzehn von idiopathischer — und zwar 7 von generalisierter und 8 von fokaler und segmentarischer — Dystonie befallenen Patienten unterzogen sich verschiedenen pharmakologischen Behandlungen mit kleinen Mengen Bromocriptine, Pymozide und Triesifenidile. Die Symptome wurden durch eine fortlaufende Punktzahl bezeichnet, so daß deren Schätzung von der Intensität des Symptoms „Dystonie“ in jedem einzelnen befallenen Körperteil abhing. Die Dystonien wurden durch Bromocriptine nicht bedeutend geändert. Pymozide führte zu einer geringeren, doch unbedeutenden, Besserung der dystonischen Symptome. Triesifenidile wirkte auf die generalisierten Dystonien, in Übereinstimmung mit einigen Literaturangaben. Die Veränderlichkeit der pharmakologischen Ergebnisse wurde auf die Verschiedenheit der dystonischen Syndrome zurückgeführt, unter denen man Fälle versammelt, die sich durch Anfangsalter, Sitz der dystonischen Symptome und Entwicklungsart voneinander unterscheiden.
    Notes: Summary A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The symptoms were evaluated by giving a progressive score in relation to the intensity of the dystonic symptom to each of the body segments involved by the dystonia. Bromocriptine did not significantly modify the dystonia. Pimozide showed a slight nonsignificant improvement of the dystonic symptoms. Trihexyphenidyl was effective in the generalized dystonias, in agreement with previous reports in the literature. The variation in the pharmacological results could be due to the diversity of the dystonic syndromes, which comprise cases that are different in age at onset, site of dystonic symptoms, and evolution.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 21 (2000), S. S57 
    ISSN: 1590-3478
    Keywords: Key words NCL ; Atypical forms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative diseases occurring in infancy and adulthood. Atypical forms of these diseases have been described and are particularly represented in the late-infantile and juvenile onset groups. Recent progress in biochemistry and molecular genetics has identified some of these variants as separate disease entities while disclosing the phenotypic variability of some classic forms. We report the result of a retrospective analysis performed on a series of 27 NCL patients, 15 of which were atypical as to clinical and/or pathological findings. Most of such patients, belonging to the late-infantile onset group and displaying homogeneous clinical-pathological features, were suggestive for CLN6. The two atypical juvenile NCL patients had features which resembled the “protracted form” of the disease. Given their relative frequency, strict clinical and pathological criteria are still the most useful tools for identifying and characterizing atypical forms and for defining phenotype-genotype correlations.
    Type of Medium: Electronic Resource
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