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Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs.A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential. Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
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Tay-Sachs Disease Tay-Sachs Disease Serial Editors Jeffery C. Hall Waltham, Massachusetts Jay C. Dunlap Hanover, New Hampshire Theodore Friedmann La Jolla, California Francesco Giannelli London, United Kingdom Tay-Sachs Disease Edited by Robert J. Desnick Mount Sinai School of Medicine of New York University New York, New York Michael M. Kaback University of California, San Diego School of Medicine San Diego, California San Diego San Francisco New York Boston London Sydney Tokyo ∞ This book is printed on acid-free paper. C 2001 by ACADEMIC PRESS Copyright All Rights Reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the Publisher. The appearance of the code at the bottom of the first page of a chapter in this book indicates the Publisher’s consent that copies of the chapter may be made for personal or internal use of specific clients. This consent is given on the condition, however, that the copier pay the stated per copy fee through the Copyright Clearance Center, Inc. (222 Rosewood Drive, Danvers, Massachusetts 01923), for copying beyond that permitted by Sections 107 or 108 of the U.S. Copyright Law. This consent does not extend to other kinds of copying, such as copying for general distribution, for advertising or promotional purposes, for creating new collective works, or for resale. Copy fees for pre-2001 chapters are as shown on the title pages. If no fee code appears on the title page, the copy fee is the same as for current chapters. 0065-2660/01 $35.00 Explicit permission from Academic Press is not required to reproduce a maximum of two figures or tables from an Academic Press chapter in another scientific or research publication provided that the material has not been credited to another source and that full credit to the Academic Press chapter is given. Academic Press A division of Harcourt, Inc. 525 B Street, Suite 1900, San Diego, California 92101-4495, USA http://www.academicpress.com Academic Press Harcourt Place, 32 Jamestown Road, London NW1 7BY, UK http://www.academicpress.com International Standard Book Number: 0-12-017644-0 PRINTED IN THE UNITED STATES OF AMERICA 01 02 03 04 05 06 EB 9 8 7 6 5 4 3 2 1 This volume is dedicated to the patients, parents, and relatives who have suffered from Tay-Sachs disease. They motivated and inspired the physicians and scientists whose efforts to understand, prevent, and cure this devastating disease are described in this volume. This Page Intentionally Left Blank Contents Contributors Preface xv xiii 1 Tay-Sachs Disease: From