Hereditary Spastic Paraplegia (HSP) refers to a group of inherited spinal cord disorders that manifest themselves first as trouble in walking and maintaining balance. The condition can grow progressively worse, however, and eventually include bladder and bowel problems and a loss of vision and muscle control that results in epilepsy, mental confusion and deafness.
HSP is caused by a gradual degeneration of the nerve pathways that carry signals from the brain down the spinal cord. As the nerve pathways erode, the legs grow increasingly stiff. Unfortunately, a diagnosis of HSP is usually made only after ruling out other disorders.
Investigators at the John P. Hussman Institute for Human Genomics (HIHG) have made major breakthroughs in the identification of one gene that causes HSP. HIHG Director Margaret Pericak-Vance, Ph.D., was involved in several studies that described new chromosomal locations for HSP and the discovery of the KIF5A gene involved in HSP.
More recently, the HIHG’s Stephan Züchner, M.D., identified the REEP1 gene that is now established as the third most common HSP gene. Dr. Züchner is also leading current studies that focus on cell culture models for HSP to increase understanding of the pathological processes that lead to these conditions. The HIHG is also actively enrolling HSP patients and their families in special studies to identify the remaining genes, which may account for about 40 percent of the disease. This research is supported by grants from the National Institute of Neurological Disorders and Stroke (NINDS) and the Hereditary Spastic Paraplegia Foundation.