Genetic and epidemiological aspect of Complex Regional Pain Syndrome
Rooij, A.M. de
Citation
Rooij, A. M. de. (2010, April 27). Genetic and epidemiological aspect of Complex Regional Pain Syndrome. Retrieved from https://hdl.handle.net/1887/15335
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Genetic and epidemiological aspects of
Complex Regional Pain Syndrome
Annetje Monique de Rooij
Annetje Monique de Rooij
Genetic and epidemiological aspects of Complex Regional Pain Syndrome
PhD thesis, Leiden University Medical Center, Leiden 2010 ISBN: 978-90-5335-272-4
© 2010, A.M.de Rooij, except (parts of) the following chapters:
Chapter 2, 3 ,4, 5: Elsevier bv, Amsterdam, The Netherlands.
Chapter 6: Springer, Berlin, Germany.
Chapter 7: Wiley-Blackwell, New York, United States of America.
No part of this book may be reproduced, stored in a retrieval system of any nature, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without prior permission in writing of the copyright owner
Cover illustration: Brachychiton acerifolius - Illawarra Flame Tree, Black Diamond Images
Printed by: Ridderprint bv, Ridderkerk
Genetic and epidemiological aspects of
Complex Regional Pain Syndrome
Proefschrift
ter verkrijging van
de graad van Doctor aan de Universiteit Leiden, op gezag van Rector Magnificus prof. mr. P.F. van der Heijden,
volgens besluit van het College voor Promoties te verdedigen op dinsdag 27 april 2010
klokke 15.00 uur
door
Annetje Monique de Rooij geboren te Amsterdam in 1978
Promotor:
Prof. dr. J.J.van Hilten
Copromotores:
Dr. J. Marinus
Dr. A.M.J.M. van den Maagdenberg
Leden:
Prof. dr. M.C.J.M. Sturkenboom, Erasmus Medical Center, Rotterdam, The Netherlands.
Prof. dr. R.R. Frants, Leiden University Medical Center, Leiden, The Netherlands.
Prof. dr. W.W.A. Zuurmond, VU University Medical Center, Amsterdam, The Netherlands.
The studies described in this thesis were performed at the Department of Neurology of the Leiden University Medical Center, Leiden, The Netherlands.
This PhD project was performed within TREND (Trauma RElated Neuronal Dysfunction), a consortium that integrates research on epidemiology, assessment technology, pharmacotherapeutics, biomarkers and genetics on Complex Regional Pain Syndrome. The consortium aims to develop concepts on disease mechanisms that occur in response to tissue injury, its assessment and treatment. TREND is supported by a government grant (BSIK03016).
Financial support for the publication of this thesis has been provided by Leiden University, Ipsen Farmaceutica B.V. and Nederlandse Vereniging van
Posttraumatische Dystrofie Patiënten.
Contents
1. Introduction. 7
2. Spontaneous onset of Complex Regional Pain Syndrome. 27 3. Familial occurrence of Complex Regional Pain Syndrome. 41 4. Increased risk of Complex Regional Pain Syndrome in siblings 61
of patients?
5. HLA-B62 and HLA-DQ8 are associated with Complex Regional 75 Pain Syndrome with fixed dystonia.
6. Systematic mutation analysis of five primary dystonia genes in 89 Complex Regional Pain Syndrome with fixed dystonia
7. No mutations found in the voltage-gated Nav1.7 sodium 105 channel α1 subunit gene SCN9A in familial
Complex Regional Pain Syndrome.
8. Summary, conclusions and future plans 119 9. Samenvatting, conclusies en toekomst plannen 133
10. Acknowledgement 149
11. List of publications 151
12. Curriculum Vitae 153
