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  • Demyelination  (1)
  • Infantile Neuroaxonal Dystrophy  (1)
  • 1
    ISSN: 1432-1459
    Keywords: Lipodystrophy ; Demyelination ; Free fatty acid ; Cholesterol ; Sphingolipid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Im Gehirn einer sogenannten „Membranolipodystrophie“ (ML) und in drei normalen Gehirnen wurden Neutrallipide und Sphingolipide vergleichend analysiert. Eine große Menge Frei-Fettsäure wurde beobachtet, aber Cholesterolester fand sich weder in der grauen noch in der weißen Substanz des ML-Gehirns. In der weißen Substanz des ML-Gehirns wurde eine geringe Abnahme des Cholesterins, der Cerebroside und auch Totallipide im Vergleich mit den normalen Gehirnen beobachtet. Es gab nicht eine bedeutsame Differenz zwischen ML und den normalen in der Komposition der Frei-und Sphingolipide-Fettsäure.
    Notes: Summary Lipids were extracted from brains of a patient with membranous lipodystrophy (ML) and three normal patients and the neutral lipid and sphingolipid constituents were investigated. The storage of a large amount of free fatty acid was observed in the ML brain, but no cholesterol ester was found. Total lipid, cholesterol and cerebroside contents were slightly decreased in the white matter of the ML brain. The compositions of free and sphingolipid fatty acids did not differ between ML and normal brains.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 69 (1986), S. 117-123 
    ISSN: 1432-0533
    Keywords: Skeletal muscle ; Intramuscular nerves ; Infantile Neuroaxonal Dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Biopsies of the biceps muscle and sural nerve were taken from a girl aged 2 years with infantile neuroaxonal dystrophy (INAD). In addition to the typical axonal spheroid bodies in a number of the i. m. nerve fibers, the neuromuscular junctions (NMJs) and motor nerve endings also contained axonal swellings. The sural nerve, except for three dystrophic fibers, was almost completely normal. A teased nerve preparation showed four additional abnormal fibers with focal axonal enlargement similar to those in giant axonal neuropathy (GAN). These results suggest that a biceps muscle biopsy may be more useful than a sural nerve biopsy for the diagnosis of INAD, because the muscle contains abnormal peripheral nerves and NMJs in high frequency.
    Type of Medium: Electronic Resource
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