Merienne et al. (1998) evaluated both immunoblot and RSK2 kinase assays as diagnostic tests for Coffin-Lowry syndrome using cultured lymphoblastoid or fibroblast cell lines. Western blot analysis failed to detect RSK2 protein in 6 patients, suggesting the presence of truncated proteins. This conclusion was confirmed in 4 patients, in whom the causative mutations, all leading to premature termination of translation, were identified. Of 4 patients showing normal amounts of RSK2 protein on Western blot and tested for RSK2 phosphotransferase activity, 1 had impaired activity. Analysis of RSK2 cDNA sequence in this patient showed a mutation of a putative phosphorylation site that would be critical for RSK2 activity. Merienne et al. (1998) concluded that both assays were reliable and rapid methods for diagnosis of Coffin-Lowry syndrome, and that, at least, the Western blot analysis could be used directly on lymphocyte protein extracted directly from blood samples.
I am 26 years old and in the last few months I have had constant headaches, to the point of losing my vision and then within the last month I have noticed a speech issue that has gotten much more frequent almost constant. I had a CAT scan a few days ago that showed no issues other than swollen mastoids. The speech problems I have is stuttering and stammering and sometimes I end up not even making any sense and if the word was coming out mixed up. It gets worse when I get upset or angry or when I try talking faster. I’m afraid to talk to people because of getting so frustrated when I stutter or stammer. I feel more embarrassed about this than anything ever before, please help me.