| title: | Epidemiology and life quality issues of hereditary spastic paraplegia in Estonia and implementing of genetic analysis |
|---|---|
| reg no: | ETF5680 |
| project type: | Estonian Science Foundation research grant |
| subject: |
3.3. Clinical Medicine |
| status: | accepted |
| institution: | University of Tartu |
| head of project: | Sulev Haldre |
| duration: | 01.01.2004 - 31.12.2007 |
| description: | The project will investigate clinical, epidemiological and life quality issues along with the aspects of molecular diagnostics of hereditary spastic paraplegia. Hereditary spastic paraplegia (HSP) or Strümpell disease, is a chronic hereditary neurological disease, which is characterized by slowly progressing spastic paresis of the legs. The neuropathological changes are almost exclusively related to the spinal cord. Degeneration of lateral corticospinal tracts from cervical to lower lumbar segments can be found with prevailing changes in the terminal parts of the axons. The main purpose of the study is to detect the prevalence of HSP in Estonia and to evaluate existing clinical subtypes of the disease. Also it is planned to introduce genetic analysis of the HSP cases and to find genotype-phenotype relationship in Estonia for this patient group. Aswell, the autors intend to identify life quality issues in HSP patients. The results of the study will answer the questions about clinical aspects of HSP. The results will reveal phenotype-genotype connections and compare Estonian population with others. Hopefully the results might give some ideas about the possible mechanisms of neurodegeneration in HSP. Practical consequences of the project would be improved care for neurological patients. The social system will provided with the overview of life quality issues. |
| project group | ||||
|---|---|---|---|---|
| no | name | institution | position | |
| 1. | Mark Braschinsky | TÜ Närvikliinik | arst-resident | |
| 2. | Katrin Gross-Paju | Lääne-Tallinna Keskhaigla | juhataja | |
| 3. | Sulev Haldre | University of Tartu | Assoc. professor | |
| 4. | Liina Vahter | Lääne-Tallinna Keskhaigla | psühholoog | |