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  • 1
    Electronic Resource
    Electronic Resource
    A case of pigmentary type of orthochromatic leukodystrophy with early onset and globoid cells (1992)
    Springer
    Acta neuropathologica 83 (1992), S. 427-433 
    Details
    ISSN: 1432-0533
    Keywords: Orthochromatic leukodystrophy (OLD) ; Globoid cell ; Proteolipid protein (PLP) ; Neuropathology ; Ceroid-lipofuscin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report herein a sporadic case of the pigmentary type of orthochromatic leukodystrophy with early onset and very rapid clinical course. The patient's development was normal until 2 years old, when he experienced visual disturbance. Rapid deterioration resulted in death 1.5 years after the onset. Metachromatic leukodystrophy, globoid cell leukodystrophy and adrenoleukodystrophy were excluded by biochemical assays. Autopsy findings were compatible with the diagnosis of the pigmentary type of orthochromatic leukodystrophy. However, there were unique findings of severe neuronal loss and the collection of globoid-like cells in the interface of the gray matter and the white matter. Immunohistochemical staining of myelin basic protein, proteolipid protein and galactocerebroside demonstrated that these myelin constituents were equally preserved in the posterior column, while absent in the lateral and anterior columns of the spinal cord.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00713537
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies (1990)
    Springer
    Journal of neurology 237 (1990), S. 491-493 
    Details
    ISSN: 1432-1459
    Keywords: Chronic GM1 gangliosidosis ; Dystonia ; GM1 ganglioside metabolism ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside β-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314770
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Uptake and metabolism of radiolabelled GM1-ganglioside in skin fibroblasts from controls and patients with GM1-gangliosidosis (1991)
    Springer
    Journal of inherited metabolic disease 14 (1991), S. 721-729 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The uptake and metabolism of [3-3H-sphingosine]GM1-ganglioside was measured in cultured skin fibroblasts from controls and patients with infantile, juvenile and adult GM1-gangliosidosis. When dissolved in medium with phosphatidylserine, GM1-ganglioside was efficiently taken up by cultured skin fibroblasts and transferred into lysosomes. A linear increase in GM1-ganglioside endocytosis was shown with phosphatidylserine concentrations of up to 40γm/ml. A pulse-chase study revealed that [3H]GM1-ganglioside was metabolized to GM2-ganglioside, GM3-ganglioside, ceramide dihexoside, ceramide monohexoside, ceramide and sphingosine. Sphingosine was recycled to sphingomyelin. In a 20-h pulse study, cell lines from patients with GM1-gangliosidosis of infantile, juvenile and adult types hydrolysed 2–5%, 20–44% and 54–58% of the total endocytosed GM1-ganglioside respectively. These values were lower than in control cells (64.17 ± 5.43% (n=10)). The hydrolysis rates of exogenous [3H]GM1-ganglioside in cultured fibroblasts from patients with various types of GM1-gangliosidosis closely reflected the clinical severity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799941
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    Paper (German National Licenses)
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