Sphingolipids, Sphingolipidoses and Allied Disorders: Proceedings of the Symposium on Sphingolipidoses and Allied Disorders held in Brooklyn, New York, October 25–27, 1971

693 Pages·1972·20.36 MB·English

by  M. Adachi

Sphingolipids,
Sphingolipidoses
and Allied Disorders
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
Editorial Board:
Nathan Back Chairman, Department of Biochemical Pharmacology, School of Pharmacy,
State University of New York, Buffalo, New York
N. R. Di Luzio Chairman, Department of Physiology,
Tulane University School of Medicine, New Orleans, Louisiana
Al£red Gellhorn University of Pennsylvania Medical School, Philadelphia, Pennsylvania
Bernard Halpern College de France,
Director of the Institute of Immuno.Biology, Paris, France
Ephraim Katchalski Department of Biophysics, The Weizmann Institute of Science,
Rehovoth, Israel
David Kritchevsky Wistar Institute, Philadelphia, Pennsylvania
Abel Lajtha New York State Research Institute for Neurochemistry and Drug Addiction,
Ward's Island, New York
Rodolfo Paoletti Institute of Pharmacology, University of Milan, Milan, Italy
Volume 1
THE RETICULOENDOTHELIAL SYSTEM AND ATHEROSCLEROSIS
Edited by N. R. Di Luzio and R. Paoletti· 1967
Volume 2
PHARMACOLOGY OF HORMONAL POLYPEPTIDES AND PROTEINS
Edited by N. Back, L. Martini, and R. Paoletti· 1968
Volume 3
GERM·FREE BIOLOGY: Experimental and Clinical Aspects
Edited by E. A. Mirand and N. Back· 1969
Volume 4.
DRUGS AFFECTING LIPID METABOLISM
Edited by W. L. Holmes, L. A. Carlson, and R. Paoletti· 1969
Volume 5
LYMPHATIC TISSUE AND GERMINAL CENTERS IN IMMUNE RESPONSE
Edited by L. Fiore.Donati and M. G. Hanna, Jr.· 1969
Volume 6
RED CELL METABOLISM AND FUNCTION
Edited by George J. Brewer· 1970
Volume 7
SURFACE CHEMISTRY OF BIOLOGICAL SYSTEMS
Edited by Martin Blank· 1970
Volume 8
BRADYKININ AND RELATED KININS: Cardiovascular, Biochemical, and
Neural Actions
Edited by F. Sicuteri, M. Rocha e Silva, and N. Back· 1970
Volume 9
SHOCK: Biochemical, Pharmacological, and Clinical Aspects
Edited by A. Bertelli and N. Back· 1970
Volume 10
THE HUMAN TESTIS
Edited by E. Rosemberg and C. A. Paulsen· 1970
Volume 11
MUSCLE METABOLISM DURING EXERCISE
Edited by B. Pernow and B. Sahin • 1971
Volume 12
MORPHOLOGICAL AND FUNCTIONAL ASPECTS OF IMMUNITY
Edited by K. Lindahl.Kiessling, G. AIm, and M. G. Hanna, Jr. • 1971
Volume 13
CHEMISTRY AND BRAIN DEVELOPMENT
Edited by R. Paoletti and A. N. Davison -1971
Volume 14
MEMBRANE-BOUND ENZYMES
Edited by G. Porcellati and F. di leso -1971
Volume 15
THE RETICULOENDOTHELIAL SYSTEM AND IMMUNE PHENOMENA
Edited by N. R. Di Luzio and K. Flemming -1971
Volume 16A
THE ARTERY AND THE PROCESS OF ARTERIOSCLEROSIS: Pathogenesis
Edited by Stewart Wolf -1971
Volume 16B
THE ARTERY AND THE PROCESS OF ARTERIOSCLEROSIS: Measurement and
Modification
Edited by Stewart Wolf -1972
Volume 17
CONTROL OF RENIN SECRETION
Edited by Tatiana A. Asaaykeen -1972
Volume 18
THE DYNAMICS OF MERISTEM CELL POPULATIONS
Edited by Morton W. Miller and Charles C. Kuehnert -1972
Volume 19
SPHINGOLIPIDS. SPHINGOLIPIDOSES AND ALLIED DISORDERS
Edited by Bruno W. Volk and Stanley M. Aronson. 1972
Volume 20
DRUG ABUSE: Nonmedical Use or Dependence.Producing Drul!8
Edited by Simon Btesh .1972
Volume 21
V ASOACTIVE POLYPEPTIDES
Edited by N. Back and F. Sicuteri • 1972
Volume 22
COMPARATIVE PATHOPHYSIOLOGY OF CIRCULATORY DISTURBANCES
Edited by Colin M. Bloor • 1972
Volume 23
THE FUNDAMENTAL MECHANISMS OF SHOCK
Edited by Lerner B. Hinshaw and Barbara G. Cox • 1972
Volume 24
THE VISUAL SYSTEM: Clinical Applications of Neurophysiology and Biophysics
Edited by G. B. Arden. 1972
Volume 25
GLYCOLIPIDS, GLYCOPROTEINS, AND MUCOPOLYSACCHARIDES
OF THE NERVOUS SYSTEM
Edited by Vittorio Zambotti, Guido Tettamanti, and Mariagrazia Arrigoni. 1972
Sphingolipids,
Sphingolipidoses
and Allied Disorders
Proceedings of the Symposium on Sphingolipidoses and Allied
Disorders held in Brooklyn, New York, October 25·27, 1971
Edited by
Bruno W. Yolk
Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center
and Department of Pathology, State University of New York
Downstate Medical Center
Brooklyn, New York
and
Stanley M. Aronson
Department of Pathology
Miriam Hospital and Brown University
Providence, Rhode Island
9:>
SPRINGER SCIENCE+BUSINESS MEDIA, LLC 1972
Library of Congress Catalog Card Numher 71-188925
ISBN 978-1-4757-6572-4 ISBN 978-1-4757-6570-0 (eBook)
DOI 10.1007/978-1-4757-6570-0
© 1972 Springer Science+Business Media New York
Originally published by Plenum Press, New York in 1972
Softcover reprint of the hardcover 1s t edition 1972
AII rights reserved
No part of this publication may be reproduced in any form without
written permission from the puhlisher
ACKNOWLEDGMENTS
The Editors wish to acknowledge the invaluable
assistance of Mr. Herbert Fischler, Chief Medical
Photographer, Mrs. Renee Brenner and Mrs. Sarah
Ginsberg in the preparation of this book.
PREFACE
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.
The editors hope that the prompt publication of these
proceedings will encourage others not only to direct their
x PREFACE
scientific attention to the still unsolved problems, but also
to pose those questions as yet unasked regarding the systemic
sphingolipidoses.
B.W.V.
S.M.A.
Brooklyn, New York
October 27, 1971
CONTRIBUTORS AND PARTICIPANTS
MASAZUMI ADACHI, Department of Neuropathology, Isaac
Albert Research Institute of the Kingsbrook Jewish
Medical.Center, Brooklyn, New York~ Department of
Pathology, New York University School of Medicine,
New York, New York
DANIEL AMSTERDAM, Isaac Albert Research Institute of the
Kingsbrook Jewish Medical Center, Brooklyn, New York~
Department of Microbiology, Mt. Sinai School of
Medicine, New York, New York
STANLEY M. ARONSON, Department of pathology, Miriam
Hospital-Brown University, Providence, Rhode Island
JAMES A. AUSTIN, Division of Neurology, University of
Colorado Medical Center, Denver, Colorado
YECHEZKEL BARENHOLZ, Department of Biochemistry, The
Hebrew University-Hadassah Medical School,
Jerusalem, Israel
ROBERT W. BARTON, National Institute of Arthritis and
Metabolic Diseases, National Institutes of Health,
Bethesda, Maryland
ROLF BLOMSTRAND, Karolinska Institute, Stockholm,
Sweden
SAMUEL BOGOCH, Boston University School of Medicine,
Foundation for Research on the Nervous System,
Boston, Massachusetts~ and Dreyfus Medical Founda
tion, New York, New York
ILANA BORKOVSKI-KUBILER, Department of Biochemistry,
The Hebrew University-Hadassah Medical School,
Jerusalem, Israel
PARTICIPANTS
xii
ROSCOE 0 BRADY, Laboratory of Neurochemistry, National
0
Institute of Neurological Diseases and Stroke,
National Institutes of Health, Bethesda, Maryland
JAN L. BRESLOW, Molecular Disease Branch, National
Heart and Lung Institute, National Institutes of
Health, Bethesda, Maryland
ROBERT M. BURTON, Departments of Pharmacology, Pediatrics
and Pathology, The Beaumont-May Institute of Neurol
ogy, Washington University Medical School, st.
Louis, Missouri
MICHAEL CANTZ, National Institute of Arthritis and
Metabolic Diseases, National Institutes of Health,
Bethesda, Maryland
J. A. CIFONELLI, Departments of Pediatrics and Biochem
istry, Joseph P. Kennedy, Jr. Mental Retardation
Research Center and La Rabida-University of Chicago
Institute, University of Chicago, Chicago, Illinois
JOE T.R. CLARKE, The Donner Laboratory of Experimental
Neurochemistry, Montreal Neurological Institute,
McGill university, Montreal, Canada
ALLEN C. CROCKER, Departments of Medicine and Surgery,
Children's Hospital Medical Center~ Department of
Pediatrics, Harvard Medical School, Boston,
Massachusetts
JOEL A. DAIN, Department of Biochemistry, University of
Rhode Island, Kingston, Rhode Island
GLYN DAWSON, Departments of Pediatrics and Biochemistry,
Joseph P. Kennedy, Jr. Mental Retardation Research
Center, University of Chicago, Chicago, Illinois
JEFFERY G. DERGE, National Institute of Arthritis and
Metabolic Diseases, National Institutes of Health,
Bethesda, Maryland
ROBERT J. DESNICK, Department of Pediatrics and Dight
Institute for Human Gene-::ics, University of Minne
sota Medical School, Minneapolis, Minnesota
S.J. DESNICK, Department of Pediatrics and Dight Insti
tute for Human Genetics, University of Minnesota
Medical School, Minneapolis, Minnesota