Hereditary spastic paraplegia (HSP) is a rare, slowly progressing disease that characteristically causes patients to have spastic gaits. The HSP project calls for the establishment and execution of a multicentric study on the natural longitudinal course of hereditary spastic paraplegia.
Thanks to progress in genetic techniques, the causes of HSP are being gradually illuminated and are now able to serve as models for more-common degenerative diseases. It affects an average of only 2-4 out of every 100,000 persons, in the course of their lives.
Specialists will examine HSP patients with a view to determining the severity of their cases and systematically documenting any additional symptoms. The research is aimed especially at identifying new genetic causes of HSP. Special analyses of fat metabolism will help identify underlying disease mechanisms of some subforms of the disease.
Cranial and spinal images will be made with MRI scans, using a standardized procedure, and the nerve conduction velocities in study participants' spinal cords, and arms and legs, will be determined.
In cases in which no genetic causes have been identified, genetic testing for all known HSP genes will be carried out. In family groups in which the causes of the disease remain unclear, a search for new HSP genes will be conducted, entailing sequencing of all gene regions that encode information for human-protein formation.
For study of fat metabolism, blood samples – and, in some cases, spinal fluid samples – will be analyzed for special fat components that are found in nerve sheaths or that play important roles in metabolic processes in the brain and the spinal cord.