ABSTRACT
We report a case of a 66-year-old patient presenting with abnormal movements and associated dementia. Death occurred 4 years after the onset of symptoms. In spite of the lack of autopsy results, the picture was one of late onset neuronal ceroid lipofuscinosis (Kufs' disease). Ultrastructural study of a peripheral nerve biopsy sample indicated a process of demyelination associated with unusual inclusions in Schwann cell cytoplasm. Biochemical analysis of the same sample and leukocytes showed considerable alterations in polyunsaturated fatty acid levels. These findings are discussed in the light of work on cases of infantile neuronal ceroid lipofuscinosis.
Subject(s)
Fatty Acids, Unsaturated/analysis , Neuronal Ceroid-Lipofuscinoses/pathology , Peroneal Nerve/ultrastructure , Aged , Dementia/complications , Female , Humans , Leukocytes/analysis , Myoclonus/complications , Nerve Fibers, Myelinated/ultrastructure , Neuronal Ceroid-Lipofuscinoses/blood , Neuronal Ceroid-Lipofuscinoses/metabolism , Peroneal Nerve/analysis , Schwann Cells/ultrastructureABSTRACT
Partially purified neurotrophic factor (NTF) from chicken nerves comigrated with transferrin and a component in several preparations known to have neurotrophic effects on cultured skeletal muscle cells. One-dimensional gel electrophoretograms of proteolytic fragments of NTF and fragments obtained from transferrins purified from chicken eggs, serum and embryos were indistinguishable. These purified transferrins, like NTF, all stimulated the incorporation of [3H]thymidine and supported myotube formation to a similar degree as NTF. These studies suggest that NTF is a transferrin-like protein and that both transferrins and NTF act by initially promoting myoblast proliferation and subsequently supporting myogenesis in chick muscle cultures.
Subject(s)
Chick Embryo/analysis , Nerve Tissue Proteins/pharmacology , Nerve Tissue/analysis , Transferrin/pharmacology , Animals , Cells, Cultured , Chickens , Electrophoresis, Polyacrylamide Gel , Female , Muscles/drug effects , Muscles/metabolism , Nerve Growth Factors , Nerve Tissue Proteins/isolation & purification , Ovum/analysis , Peptide Fragments/isolation & purification , Peroneal Nerve/analysis , Transferrin/isolation & purificationSubject(s)
Nerve Tissue Proteins/metabolism , Ammonium Sulfate , Animals , Biological Assay , Cells, Cultured , Chickens , Chromatography, Gel , Chromatography, Ion Exchange , Drug Stability , Electrophoresis, Polyacrylamide Gel , Hydrogen-Ion Concentration , Muscles/cytology , Nerve Growth Factors , Nerve Tissue Proteins/isolation & purification , Peroneal Nerve/analysis , Thymidine/metabolismABSTRACT
We report here the results of a simple and reproducible technique which can be used in semi-routine analysis of peripheral nerve biopsy specimens, so as to have a quantitative analysis of the major lipid classes, i.e. cholesterol, cerebrosides, ethanolamine phospholipids, phosphatidyl-choline, phosphatidyl-serine + phosphatidylinositol, sphingomyelin and gangliosides. Glycolipid hexoses, cholesterol and total phospholipids have been compared in different age groups. Although all lipid classes increased from the younger to the older age group, the molar ratio of cholesterol to phospholipid differed less than the glycolipid to phospholipid ratio. Both increased significantly, even between age group 10--16 and older patients (36, 54, 61, 68, 72 and 73 years old). Although individual variations in lipid content are noteworthy, it must be emphasized that evolution with age of the lipid composition must be taken into account. Furthermore, this study confirms and extends earlier findings of increased ganglioside levels in some cases of peripheral neuropathies observed during perhexiline maleate therapy where characteristic lipid-like polymorphous inclusions have been demonstrated.
