The new diagnostic test for dystonia

Dystonia is the debilitating movement disorder of central nervous system, often inherited, appearing as involuntary movements that occur due to deficiency or excess of neurotransmitters. The penetrance of dystonia is 30%, which means, that inherited dystonia is manifested only in 30% of mutating gene carriers, while the rest suffer from latent forms, so called “forms frustes” of this disorder. Until now only few mutations responsible for dystonia, had been unveiled, but we expect to exist up to 100 such mutations. Unless we uncover all mutations responsible for dystonia, we require reliable test for diagnosing latent forms of dystonia; and this necessity explains the importance of present study. The purpose of this research was to elaborate discrimination of dystonia on the basis of biogenic amines exchange peculiarities. The study presents the observational case — control study. The control group was randomly composed of those patients, who were checked for neuroglial tumors. We checked catecholamines and serotonin metabolites in plasma and urine of 12 dystonia patients main group by means of chromatography method and compared the results obtained from these two groups by means of the decision tree method, discriminant analysis, and factor analysis. We revealed increased serotonin turnover in dystonia, and on the base of those increased metabolites in plasma, such as 5-hydroxytryptophane and 5-hydroxiindolacetic acid, by means of advanced statistical methods we eleborated sensitive and specific test for diagnosis of dystonia. We recommend introducing into clinical practice of diagnostic tests for dystonia on the base of analysis of diagnosing level in plasma of 5-hydroxytryptophane and 5-hydroxiindolacetic acid by means of discriminant analysis and classification tree method due to high sensitivity and high specifity of those methods.