What We Do
The Spastic Paraplegia Foundation is dedicated to advancing research and ultimately finding the cures for two closely related groups of neurodegenerative disorders termed Hereditary Spastic Paraplegia (HSP) and Primary Lateral Sclerosis (PLS). These conditions share the common pathologic feature of degeneration principally of the upper motor neurons.
Scientists have unraveled many of the riddles regarding the complicated biochemistry of these diseases. Many HSP genes have now been discovered as well as a gene for PLS. Animal models for these disorders have been developed. They will enable investigators to further uncover the biochemical processes that cause nerve degeneration and identify and test therapy targets.
References and Recommended Reading
Here are links to published research reports:
(1) HSP https://link.springer.com/search?query=Hereditary+Spastic+Paraplegia
(2) PLS https://link.springer.com/search?query=Primary+Lateral+Sclerosis
NIH - National Institute of Medicine, Pub-Med:
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43: https://pubmed.ncbi.nlm.nih.gov/38367882/
Boston Children's Hospital
The journey to a treatment for hereditary spastic paraplegia: https://answers.childrenshospital.org/hereditary-spastic-paraplegia-treatment/
Nature Communications
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia: https://www.nature.com/articles/s41467-023-44264-1
