# hereditary spastic paraplegia

> genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs

**Wikidata**: [Q657516](https://www.wikidata.org/wiki/Q657516)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
5. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
6. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)