Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.

BACKGROUND AND PURPOSE: Dystonia is difficult to recognize due to its large phenomenological complexity. Thus, the use of experts in dystonia is essential for better recognition and management of dystonia syndromes (DS). Our aim was to document managing strategies, facilities and expertise available in various European countries in order to identify which measures should be implemented to improve the management of DS. METHODS: A survey was conducted, funded by the Cooperation in Science and Technology, via the management committee of the European network for the study of DS, which is formed from representatives of the 24 countries involved. RESULTS: Lack of specific training in dystonia by general neurologists, general practitioners as well as other allied health professionals was universal in all countries surveyed. Genetic testing for rare dystonia mutations is not readily available in a significant number of countries and neurophysiological studies are difficult to perform due to a lack of experts in this field of movement disorders. Tetrabenazine is only readily available for treatment of dystonia in half of the surveyed countries. Deep brain stimulation is available in three-quarters of the countries, but other surgical procedures are only available in one-quarter of countries. CONCLUSIONS: Internationally, collaboration in training, advanced diagnosis, treatment and research of DS and, locally, in each country the creation of multidisciplinary teams for the management of dystonia patients could provide the basis for improving all aspects of dystonia management across Europe.

Delta deletion 4977 in mitochondrial DNA in patients with idiopathic Parkinson's disease.

AIM: To determine the presence of delta deletion 4977 in mitochondrial DNA in patients with Idiopathic Parkinson's disease (IPD). MATERIAL AND METHODS: This has been a prospective, clinically genetic study, lasting for whole two years. The clinical part of this study was made at the University Clinic of Neurology in Skopje, Unit for extrapyramidal diseases. The laboratory-genetic part of the study was elaborated at the Laboratory for molecular biology at the Institute for Biology, Faculty of Sciences, University "Sts. Cyril and Methodius". This study comprised a total of 32 subjects with a clinically verified diagnosis for idiopathic Parkinson's disease; 18 men and 14 women (with mean age of 52.7 years). Control group consisted of 31 randomly selected, literally healthy persons, at similar age, with similar gender distribution, and no clinical and anamnestic data for parkinsonism or similar clinical entities. RESULTS: Objective neurologic results of all 32 investigated subjects (100%) showed presence of rigor, tremor and bradykinesia.The difference tested between the investigated and control group, concerning the present or absent deletion and heteroplasmia, has been highly statistically significant (p=0.001). CONCLUSION: It could be concluded with a great statistical significance that deletion 4977 in mitochondrial genome has been registered more frequently in the group of patients with IPD (Tab. 10, Fig. 6, Ref. 36).

Clinical, neurophysiologic, neuropsychological findings and short genetic analysis in patients with idiopathic Parkinson's disease.

UNLABELLED: The aim of this paper is to analyze the results of correlation of clinical symptoms and their characteristics with the results of neurophysiologic, neuropsycologic investigations and short genetic analyses in patients with Idiopathic Parkinson's disease (IPD). MATERIAL AND METHODS: The paper is a prospective and retrospective study of 15 IPD patients and 25 patients with different forms of parkinsonism. RESULTS: Patients with idiopathic Parkinson's disease had all cardinal symptoms characteristic for the disease: tremor, rigidity and reduced postural reflexes in 100%. CONCLUSION: Clinical, neurophysiologic, neuropsychologic and neuroimaging methods of investigations showed changes that are nonspecific in proportions corresponding to those in available literature (Tab. 3, Fig. 2, Ref. 11).