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The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease

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The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease Coming Full Circle: The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease by Judith Ellen Friedman B.Sc., University of Alberta, 1994 B.A. University of Alberta, 1995 M.A. University of Alberta, 1997 A Dissertation Submitted in Partial Fulfillment of the Requirements for the Degree of DOCTOR OF PHILOSOPHY in the Department of History © Judith Ellen Friedman, 2008 University of Victoria All rights reserved. This dissertation may not be reproduced in whole or in part, by photocopying or other means, without the permission of the author. ISBN: 978-0-494-52946-1 ii Coming Full Circle: The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease by Judith Ellen Friedman B.Sc., University of Alberta, 1994 B.A. University of Alberta, 1995 M.A. University of Alberta, 1997 Supervisory Committee Dr. Gregory Blue, Supervisor (Department of History) Dr. Angus McLaren, Departmental Member (Department of History) Dr. David Zimmerman, Departmental Member (Department of History) Dr. Robert Reid, Outside Member (Department of Biology) Dr. Michael Ashwood-Smith, Outside Member (Department of Biology) Dr. Robert Olby, External Examiner (Department of History and Philosophy of Science, University of Pittsburgh) iii Supervisory Committee Dr. Gregory Blue, Supervisor (Department of History) Dr. Angus McLaren, Departmental Member (Department of History) Dr. David Zimmerman, Departmental Member (Department of History) Dr. Robert Reid, Outside Member (Department of Biology) Dr. Michael Ashwood-Smith, Outside Member (Department of Biology) Dr. Robert Olby, External Examiner (Department of History and Philosophy of Science, University of Pittsburgh) ABSTRACT This dissertation examines the history of the creation and development of the concept of anticipation, a pattern of heredity found in several diseases (e.g. Huntington’s disease and myotonic dystrophy), in which an illness manifests itself earlier and often more severely in successive generations. It reconstructs major arguments in twentieth-century debates about anticipation and analyzes the relations between different research communities and schools of thought. Developments in cutting-edge medicine, biology, and genetics are analyzed; many of these developments were centered in Britain, but saw significant contributions by people working in France, Germany, Switzerland, the Netherlands and North America. Chapter one traces precursor notions in psychiatric and hereditarian thought from 1840 to the coining of the term ‘anticipation’ by the ophthalmologist Edward Nettleship in 1905. Key roles in the following chapters are played by several figures. Prior to World War II, these include: the neuropathologist F.W. Mott, whose advocacy during 1911- iv 1927 led to anticipation being called “Mott’s law”; the biometrician and eugenicist Karl Pearson, who opposed Mott on methodological and political grounds; and two politically and theoretically opposed Germans – Ernst Rüdin, a leading psychiatrist and eugenicist who came to reject anticipation, and Richard Goldschmidt, a geneticist who offered a peculiar Mendelian explanation. The British psychiatrist and human geneticist, Lionel Penrose, makes a first interwar appearance, but becomes crucial to the story after World War II due to his systematic dismissal of anticipation, which discredited the notion on orthodox Mendelian grounds. The final chapters highlight the contributions of Dutch neurologist Christiaan Höweler, whose 1980s work demonstrated a major hole in Penrose’s reasoning, and British geneticist Peter Harper, whose research helped demonstrate that expanding trinucleotide repeats accounted for the transgenerational worsening without contradicting Mendel and resurrected anticipation as scientifically legitimate. Reception of the concept of anticipation is traced across the century through the examination of textbooks used in different fields. This dissertation argues against established positions regarding the history of the concept, including claims that anticipation’s association with eugenics adequately explains the rejection of the notion after 1945. Rejected, in fact, by many eugenicists from 1912, anticipation was used by physicians until the 1960s. v Table of Contents Supervisory Committee ...……………………………………………………………….. ii Abstract …………………………………………………………………………………. iii Table of Contents ………………………………………………………………...……… v Acknowledgements ……………………………………………………………………... vi Dedication …………………………………………………………………...……...…. viii Introduction ……………………………………………………………………………… 1 Chapter One: Anticipating Anticipation (1840-1910) …………………………………. 12 Chapter Two: A Natural Law (1910-1930) ……………………………………………. 35 Chapter Three: Seeking to Define a Mechanism (1930-1945) ………………...……..... 72 Chapter Four: Refuting the Concept of Anticipation (1945-1970) …………………… 147 Chapter Five: Gradually Re-Conceptualizing Anticipation (1970-1990) …………….. 210 Chapter Six: Anticipation Redeemed – Discovering Expanding ……………………... 240 Trinucleotide Repeats (1991-1994) Conclusion ……………………………………………………………………………. 261 Bibliography ………………………………………………………………………..… 265 vi Acknowledgements This dissertation could not have been completed without the help and support granted to me by a number of people along the way. I would like to extend my thanks to Dr. Rosemary Ommer for her unstinting support and words of wisdom and, most of all, for introducing me to my supervisor Dr. Gregory Blue. I would like to thank my supervisory committee for their help and patience as the project changed and progressed. I learned many valuable lessons from both the historians (Dr. Angus McLaren and Dr. David Zimmerman) and the biologists (Dr. Robert Reid and Dr. Mike Ashwood-Smith). Dr. Patricia Roy graciously agreed to take part in the defence at the last minute, and I would like to thank her for her valuable comments on the dissertation. I have always appreciated her open door policy and her many sensible words of advice during my time in Victoria. I owe my supervisor Dr. Greg Blue an especial debt of gratitude. He took on an unexpected graduate student and stuck with me through all of the twists and turns of the project. His unfailing encouragement that “it would take as long as it needed to” helped to keep me going through some difficult patches. I cannot thank him enough. I would like to acknowledge the help of the staff of the Department of History, past and present, Judy Nixon, Karen McIvor, Karen Hickton, Eileen Zapshala, and Heather Waterlander, who were always there with help and assistance when I had questions. Many members of the faculty also provided me with encouragement and support but I would like to extend special thanks to Dr. Brian Dippie and Dr. Eric Sager. Two vital components to the dissertation process are funding and research. I would like to express my gratitude to the Department of History and the Faculty of Graduate Studies of the University of Victoria, the Social Sciences and Humanities Research Council, and the Rockefeller Archive Center for providing me with financial support. I would also like to thank the staff of the Rockefeller Archive Center, the Cold Spring Harbor Laboratory Library and Archives, the American Philosophical Society Library, the New York Public Library, the Cambridge University Archives, the Royal Society Library and Archive, the Royal Society of Medicine Library, and the Wellcome Library for their invaluable assistance. The staff of Interlibrary Loan Services at the University of Victoria went above and beyond the call of duty in helping me to track vii down sources both obscure and mundane. I would also like to extend my thanks to those who very kindly agreed to be interviewed for this dissertation—most especially Dr. Peter Harper, Dr. Christiaan Höweler, and Dr. Keith Johnson—and those who were interviewed for stages of the project that did not come to fruition in this dissertation. Without their recollections and comments this would have been a much poorer dissertation. Encouragement along the way came from friends, old and new, at the University of Victoria and the University of Alberta but I would like to especially thank Bob Cole for his friendship and support and my fellow (ex)graduate students Georgia Sitara and Andrew Wender who shared the journey with me. This project would not have been possible without the support of my family. Although my parents, Manuel and Rhoda, must have wondered if my dissertation would ever be finished, they continued to encourage me along the way. My siblings James and Jeni were also unfailing in their assurance that I would succeed. I would also like to thank my Aunt Margaret for her assistance and the words of support that I received both from her and from my Uncle Morris who, unfortunately, did not get to see how it all turned out. viii Dedication This dissertation is dedicated to those who encouraged me along the way but, unfortunately, did not live to see the final results of this project. “The Gimli Girls” Ethel, Ada, and Eva Greenberg Dr. Morris H. W. Friedman Dr. Robert K. Merton 1 Introduction In a finding that adds a strange new twist to traditional genetics, scientists have discovered that the most common form of muscular dystrophy is caused by a gene that gradually grows bigger each time it is inherited. And the bigger it gets, the worse the disease. The discovery about the form called myotonic dystrophy, made at the same time by three separate groups of scientists, brings to light a novel mechanism of inheritance, involving a
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