Foreword

Neuroacanthocytosis (NA) is a group of diseases that snatch away bodily control, and with it the independence and hopes of young adults around the world. As parents of a 27 year-old we shuddered to hear a compassionate neurologist tell her, "The good news is that we can name your disease; the bad news is there is nothing we can do but to try to make it easier for you." The worst news, wisely left unsaid, was that there is no stopping the degeneration of the brain and the impending life of dependence, frustration and pain.

It takes the inveterate optimist to see the positive side, that the NA diseases offer two clues to the critical causes of neurodegeneration:

• the abnormalities in the cell membranes that are manifest in the red blood cells of patients and

• the impact of mutations in a number of specific genes that may each be a step in a neurodegenerative pathway.

The anguish of patients and the compulsion to understand these clues stimulated Adrian Danek, Hans Jung, Tony Monaco, Akira Sano, François Tison, Ruth Walker and many others, including Thomas Witt, Jordan Grafman cedilla in Francois, Mitchell Brin, the late W.L. Marsh, Col vin Redman, Maria Teresa Dotti and Alexander Storch to find spare resources and time over more than 10 years to build a foundation of know-ledge and a network of collaboration to study these diseases. We have them all to thank for the momentum of the movement.

The compassion and curiosity of these champions combined with their loving conviction that personal action may make things better are contagious. They are shared by physicians and researchers as well as the families and friends of the patients whose generous donations have allowed the Advocacy for Neuroacanthocytosis Patients to support several small research projects as well as help to finance three international meetings and resulting publications. Recent events give us reason to hope that funding will be found for a multi-disciplinary, international task force.

This anguish and hope are combined in the logo created by the Japanese artist Teiko Dewa, who superimposed the Japanese kanji symbol for "star", signifying "light", "hope" and "radiance", over the symbol of the thorny cells that characterize neuroacanthocytosis.

The hospitality of Professor Eva Andermann and her institution, the Montreal Neurological Institute and Hospital, as well as Professor Masanori Nakagawa of the Kyoto Prefectural Medical University made possible the symposia (see Figs. 1 and 2) that are the foundation for the contents of this book. All of the authors of the chapters in the book as well as Joseph B. Martin, Dean of the Harvard Medical School, who opened the Montreal Symposium, have contributed substance as well as the imagination that leads to vision of where an answer may be found.

We were both immeasurably helped and encouraged by the financial support for the symposia from Mr. and Mrs. Carl H. Pforzheimer III, Mr. and Mrs. In-Suk Oh, Mr. and Mrs. Ian Mackay, High Q Foundation, Mary Kinross Charitable Trust, The Movement Disorder Society, Montreal Neurological Institute, Nippon Boehringer Ingelheim Limited and Thyssen-Stiftung. Grooms-Shaftsbury, the English charity that has worked with disabled young adults since 1862, gives us vital financial administrative support.

Money and motivation only produce results in the presence of dedication. The dedication of the leadership of the symposia that included Eva Andermann, Adrian Danek, Hans H. Jung, Shinji Saiki and Ruth Walker was vital. Enormous help in organizing the two symposia came from Teiko Dewa, Naoko Funabashi, Etsuko Morris, Meredith Stangenberg, Hazel Stoddart and Robin Warwick who all volunteered to produce the program materials as well as the many details that made the events successful.

Ruth Walker, together with Shinji Saiki, put together the Kyoto program. Ruth, who also chaired the Symposium and co-edited this book, makes a mighty contribution. She, together with Adrian Danek, whose concern and untiring effort is the inspiration and the driving force of this special collaboration, deserve our special thanks.

It is all of these people together with the patients they serve who are the Advocacy for Neuroacanthocytosis Patients.

Secretariat

The Advocacy of Neuroacanthocytosis Patients

Ginger and Glenn Irvine

Fig. 1 Attendees at Second International Neuroacanthocytosis Symposium, Montreal, Canada, April 17th—19th 2005. Left to right Back row: Akira Sano, MD, PhD; Massimo Avoli, MD, PhD; François Tison, MD, PhD; Masayuki Nakamura, MD, PhD; Abbas Sadikot, MD, PhD; Colvin M. Redman, PhD; Giel J.C.G..M. Bosnian, PhD; Gordon W. Stewart, MD; Russell L. Margolis, MD; Steven M. Holland, MD; Karen Gale, PhD; Kailash P. Bhatia, MD, FRCP; Joseph B. Martin, MD, PhD; Adrian Danek, MD; Antonio Velayos-Baeza, PhD; Carol Dobson-Stone, MBiochem, DPhil; Renzo Guerrini, MD; Frederick Andermann, MD, FRCP(C); Robert A. Hegele, MD, FRCP(C), FACP; James Phelan, PhD; Richard A. Hardie, MD; Glenn Irvine; Juan Botas, PhD. Front row: Pierre Burbaud, MD; Jacqueline Mcintosh, MA, MRCSLT; Hans H. Jung, MD; Mio Ichiba, MD; Robert S. Fuller, PhD; Ruth H. Walker, MB, ChB, PhD; Eva Andermann, MD, PhD, FCCGM; Clotilde Lévecque, PhD; Soohee Lee, PhD; Françoise Marie-Françoise Chesselet, MD, PhD; Michael Hayden, MB, ChB, PhD, FRCP(C), FRSC; David Rosenblatt, MD; Klaus L. Leenders, MD

Fig. 1 Attendees at Second International Neuroacanthocytosis Symposium, Montreal, Canada, April 17th—19th 2005. Left to right Back row: Akira Sano, MD, PhD; Massimo Avoli, MD, PhD; François Tison, MD, PhD; Masayuki Nakamura, MD, PhD; Abbas Sadikot, MD, PhD; Colvin M. Redman, PhD; Giel J.C.G..M. Bosnian, PhD; Gordon W. Stewart, MD; Russell L. Margolis, MD; Steven M. Holland, MD; Karen Gale, PhD; Kailash P. Bhatia, MD, FRCP; Joseph B. Martin, MD, PhD; Adrian Danek, MD; Antonio Velayos-Baeza, PhD; Carol Dobson-Stone, MBiochem, DPhil; Renzo Guerrini, MD; Frederick Andermann, MD, FRCP(C); Robert A. Hegele, MD, FRCP(C), FACP; James Phelan, PhD; Richard A. Hardie, MD; Glenn Irvine; Juan Botas, PhD. Front row: Pierre Burbaud, MD; Jacqueline Mcintosh, MA, MRCSLT; Hans H. Jung, MD; Mio Ichiba, MD; Robert S. Fuller, PhD; Ruth H. Walker, MB, ChB, PhD; Eva Andermann, MD, PhD, FCCGM; Clotilde Lévecque, PhD; Soohee Lee, PhD; Françoise Marie-Françoise Chesselet, MD, PhD; Michael Hayden, MB, ChB, PhD, FRCP(C), FRSC; David Rosenblatt, MD; Klaus L. Leenders, MD

Fig. 2 Attendees at Third International Neuroacanthocytosis Symposium; Kyoto, Japan, October 28th 2006. Left to right; back row: Yohei Tamura, MD; Nagato Kuriyama, MD; Tadataka Kawakami, MD; Glenn Irvine; Mio Ichiba, MD; Toshiki Mizuno, MD; Benedikt Bader, MD; Mark Walterfang, MD; Lucia de Franceschi, PhD; Gordon W. Stewart, MD; Sonia Gandhi, MD; Giel Bosnian, PhD; Clotilde Leveque, PhD; Hans H. Jung MD; Antonio Velayos-Baeza, PhD; Akira Sano, MD, PhD; Adrian Danek, MD; Mark Guttman, MD; Jan Aasly, MD; Masayuki Nakamura, MD, PhD; Mikihiro Kihara MD, PhD; Yutaka Kurano, MD; Felix Geser, MD, PhD; Yasufumi Kageyama, MD; Ginger Irvine; Jun Ochiai, MD; Robin Warwick BS. Front row: Naoko Funabashi; Etsuko Morris; Ruth H. Walker, MB, ChB, PhD; Genjiro Hirose, MD, PhD; Shinji Saiki, MD; Mieko Matsuda, MD; Pang Ying Shih, MD; Fusako Yokochi, MD, PhD; Soohee Lee, PhD; Chiho Ishida, MD; Junko Takahashi, MD; Yoshihiko Tani, MD, PhD; Mac Ho, DPhil; Nobuo Terada, MD

Fig. 2 Attendees at Third International Neuroacanthocytosis Symposium; Kyoto, Japan, October 28th 2006. Left to right; back row: Yohei Tamura, MD; Nagato Kuriyama, MD; Tadataka Kawakami, MD; Glenn Irvine; Mio Ichiba, MD; Toshiki Mizuno, MD; Benedikt Bader, MD; Mark Walterfang, MD; Lucia de Franceschi, PhD; Gordon W. Stewart, MD; Sonia Gandhi, MD; Giel Bosnian, PhD; Clotilde Leveque, PhD; Hans H. Jung MD; Antonio Velayos-Baeza, PhD; Akira Sano, MD, PhD; Adrian Danek, MD; Mark Guttman, MD; Jan Aasly, MD; Masayuki Nakamura, MD, PhD; Mikihiro Kihara MD, PhD; Yutaka Kurano, MD; Felix Geser, MD, PhD; Yasufumi Kageyama, MD; Ginger Irvine; Jun Ochiai, MD; Robin Warwick BS. Front row: Naoko Funabashi; Etsuko Morris; Ruth H. Walker, MB, ChB, PhD; Genjiro Hirose, MD, PhD; Shinji Saiki, MD; Mieko Matsuda, MD; Pang Ying Shih, MD; Fusako Yokochi, MD, PhD; Soohee Lee, PhD; Chiho Ishida, MD; Junko Takahashi, MD; Yoshihiko Tani, MD, PhD; Mac Ho, DPhil; Nobuo Terada, MD

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