This is yet another important study from the TREND group in the Netherlands. Bob van Hilten, one of that rare breed who is both terrifically successful and remarkably nice, a generous, physical and intellectual sequoia of a man, wrote this little blurb below. As far as my meagre resources can decipher, it provides good evidence that the most likely genes to predispose or cause dystonia in CRPS, don’t. This doesn’t mean that there is no genetic contribution, but it does mean that the genes that underpin familial dystonia are not important in CRPS-dystonia. So, are genes important at all in CRPS-dystonia, or in CRPS without dystonia for that matter? I don’t think we have really answered that question yet, although there are several papers alluding to an answer. My gut feeling is that genetics probably modulate the risk, but certain mutations are neither sufficient nor necessary for CRPS. I guess we will wait and see.
The genetics of dystonia in CRPS – not what we were expecting
Prof JJ van Hilten
Complex regional pain syndrome (CRPS) is a chronic pain disorder. Approximately 25% of the patients with CRPS develop dystonia, which is characterized by involuntary, sustained muscle contractions.1 The pathogenesis of CRPS and its relation with dystonia remain poorly understood. There is circumstantial evidence to suggest that genetic factors may play a role in CRPS, especially in CRPS associated with dystonia. First, the age at onset of CRPS patients with dystonia is, on average, eleven years younger than CRPS patients without dystonia.2 Generally, early-onset forms of a disease are more likely to be genetic in origin, as opposed to late-onset forms of a disease.3 To date, however, no single causative gene has been identified for CRPS. There are familial dystonia syndromes in which the causative gene has successfully been identified (so-called DYT genes). We hypothesized that these DYT genes may play a role in the susceptibility to develop dystonia in CRPS. To increase our chances of finding gene mutations, we studied those DYT genes with a known function in biological pathways that are assumed to play a role in CRPS. In 44 CRPS patients with CRPS with fixed dystonia the genes DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 were investigated for causal mutations. No such mutations were identified, indicating that these genes do not seem to play a major role in CRPS with fixed dystonia.
Professor Bob van Hilten has only three degrees – medical, neurological and scientific – all from the Leiden University, the Netherlands. He is considered a world expert in movement disorders and complex regional pain syndrome, which is why he is Scientific Director of the TREND consortium in the Netherlands – a multimillion Euro multi-programme project aimed at better understanding and treatment of CRPS. He recently purchased the most sophisiticated interactive whiteboard/computer screeny thingie for his office and assures me that it has nothing to do with the World Cup and that he would come to work dressed up as Robin van Percy anyway. He is on that many committees (the small, important ones – not the big faffy ones) and has published that many papers that he now no longer bothers to count them. BodyinMind is thrilled that he squeezed another nanosecond out of his hectic schedule to write a post. Clearly, he did not write this bio.
 Fahn S (1988). Concept and classification of dystonia. Advances in neurology, 50, 1-8 PMID: 3041755
 van Rijn MA, Marinus J, Putter H, & van Hilten JJ (2007). Onset and progression of dystonia in complex regional pain syndrome. Pain, 130 (3), 287-93 PMID: 17499924
 Schork NJ (1997). Genetics of complex disease: approaches, problems, and solutions. American journal of respiratory and critical care medicine, 156 (4 Pt 2) PMID: 9351588
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