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.
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All Diseases > Spastic paraplegia 51
Spastic paraplegia 51
Alternative Names: SPG51
Disease Category: Spastic Paraplegia
Spastic paraplegia type 51 (SPG51) is a childhood-onset, complex form of hereditary spastic paraplegia caused by biallelic pathogenic variants in AP4E1, one of the four genes encoding the adaptor protein complex 4 (AP-4). Along with AP4B1 (SPG47), AP4M1 (SPG50), and AP4S1 (SPG52), it belongs to the group of AP-4–associated hereditary spastic paraplegias.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)