Sphingolipids, Sphingolipidoses and Allied Disorders

1. Front Matter

   Pages i-xxvii

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2. Fine Structure of Early Tay-Sachs Disease

   • M. Adachi, J. Torii, L. Schneck, B. W. Volk

   Pages 1-13

3. Biopsy Diagnosis of Lipidoses: Background Considerations, General Concepts and Practical Aspects

   • Benjamin H. Landing, Harry B. Neustein, Shigehiko Kamoshita

   Pages 15-35

4. Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations

   • George Hug, William K. Schubert, Shirley Soukup

   Pages 37-51

5. The Morphogenesis and Biochemical Characteristics of Ceroid Isolated from Cases of Neuronal Ceroid-Lipofuscinosis

   • Aristotle N. Siakotos, Hans H. Goebel, Vimalkumar Patel, Itaru Watanabe, Wolfgang Zeman

   Pages 53-61

6. Effect of Conditions of Extraction on the Extractability of Brain Gangliosides

   • J. Folch-Pi

   Pages 63-76

7. Gangliosides of CSF and Plasma: Their Relation to the Nervous System

   • R. W. Ledeen, R. K. Yu

   Pages 77-93

8. Ganglioside Inner Esters

   • Robert H. McCluer, James E. Evans

   Pages 95-102

9. Human Brain Lipid Composition Changes with Age and Alterations in Some Pathological States: A New Method of Graphic Analysis

   • George Rouser, Gene Kritchevsky

   Pages 103-126

10. Brain Glycoproteins and Inter-Cell Recognition: Tay-Sachs’ Disease and Intraneuronal Recognition

    • Samuel Bogoch

    Pages 127-149

11. A Fast Moving Protein in Tay-Sachs Disease

    • Denise Karcher, A. Lowenthal, W. Zeman

    Pages 151-162

12. Effect of Amino Acid Imbalance on Polyribosome Profiles and Protein Synthesis in Fetal Cerebral Cortex

    • Paul W. K. Wong, Parvin Justice

    Pages 163-174

13. Purification and Properties of Two Sphingolipid Hydrolases

    • Howard R. Sloan, Jan L. Breslow, Donald S. Fredrickson

    Pages 175-186

14. Deficiency of Specific Proteins in the Inborn Errors of Mucopolysaccharide Metabolism

    • Elizabeth F. Neufeld, Robert W. Barton, Michael Cantz, Jeffery G. Derge, Clara W. Hall, Hans Kresse et al.

    Pages 187-194

15. The Degradation of Acid Mucopolysaccharides and the Mucopolysaccharidoses

    • Albert Dorfman, Reuben Matalon, J. Anthony Cifonelli, Jerry Thompson, Glyn Dawson

    Pages 195-210

16. The Mucopolysaccharidoses as Lysosomal Diseases

    • F Van Hoof, H. G. Hers

    Pages 211-223

17. Recent Observations on Gaucher’s Disease

    • Julian N. Kanfer, Marcia Stein, Christine Spielvogel

    Pages 225-236

18. Interaction of Enzymes with Lipid Substrates

    • Shimon Gatt, Yechezkel Barenholz, Ilana Borkovski-Kubiler, Zelina Leibovitz-Ben Gershon

    Pages 237-256

19. Problems in Prenatal Diagnosis Using Sphingolipid Hydrolase Assays

    • J. Alexander Lowden, Marie-Anne LaRamee

    Pages 257-267

20. Radioactive Precursor Incorporation into Lipids of Humans with Cerebral Lipidoses:1-14C-Glucosamine, U3H-Serine, and 3H-Acetate

    • Robert M. Burton, S. Handa, R. E. Howard, T. Vietti

    Pages 269-276

This text contains the scientific contributions to the Fourth International Symposium on Sphingolipids, Sphingo­ lipidoses and Allied Disorders held at the Kingsbrook Jewish Medical Center on October 25-27, 1971. These meetings were conducted under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and the National Tay-Sachs and Allied Diseases Association, Inc. Four symposia, held in 1958, 1961, 1965 and 1971 were designed to gather the most relevant and innovative of the laboratory and field studies concerned with these hereditary disorders. The texts generated by these periodic meetings have mirrored the increasing absorption of the scientific community in the problems of sphingolipid metabolism. The first meeting in 1958 consisted of but twelve pre­ sentations, the majority emanating from local laboratories. The current sessions contain 48 scientific presentations by scientists from nine countries and demonstrate the increas­ ingly diversified techniques and approaches employed in the study of these diseases. Many of the authors, in exploring data on the mucopolysaccharidoses and leucodystrophies, as well as the sphingolipidoses, have given recognition to those biochemical areas held in common by these otherwise diverse disease processes. The problems of prevention and therapy of these diseases have been considered by some of the contributors. Laboratory screening procedures designed to detect carriers of the va­ rious lipidoses are now available and the experiences of some laboratories in this area are summarized within this volume. The prospective identification of heterozygotes may indeed become a powerful adjunct in genetic counseling.

• Laboratory
• absorption
• biopsy
• cognition
• counseling
• diseases
• metabolism
• prevention
• research
• screening
• therapy
• transplantation

• Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and Department of Pathology, Downstate Medical Center, State University of New York, Brooklyn, USA

  Bruno W. Volk

• Department of Pathology, Miriam Hospital and Brown University, Providence, USA

  Stanley M. Aronson

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