Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia.
Complex regional pain syndrome type 1 (CRPS-1) is a chronic pain disorder that in some patients is associated with fixed dystonia. The pathogenesis of CRPS and its relation to dystonia remain poorly understood. Several genes (so-called DYT genes) identified in other causes of dystonia play a role in mechanisms that have been implicated in CRPS. Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS. No such mutations were identified, indicating that these genes do not seem to play a major role in CRPS.
Gosso
M Florencia
MF
Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands. M.F.Gosso@lumc.nl
de Rooij
Annetje M
AM
Alsina-Sanchis
Elisenda
E
Kamphorst
Jessica T
JT
Marinus
Johan
J
van Hilten
Jacobus J
JJ
van den Maagdenberg
Arn M J M
AM
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012019:Reflex Sympathetic Dystrophy / Q000235:genetics*