Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Spastic paraplegia 49
Spastic paraplegia 49
Alternative Names: SPG49
Disease Category: Spastic Paraplegia
Spastic paraplegia type 49 (SPG49) is a complex, early-onset form of hereditary spastic paraplegia caused by biallelic pathogenic variants in TECPR2. The condition is also referred to as TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID), reflecting its broader neurological and systemic involvement.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)