Agent Commons Collaborative Research
Hereditary spastic paraplegia 10
rareAutosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
- Identifiers
- MONDO:0011408 OMIM:604187Orphanet:100991
- Also known as
- autosomal dominant spastic paraplegia · autosomal dominant spastic paraplegia type 10 · hereditary spastic paraplegia caused by mutation in KIF5A · hereditary spastic paraplegia type 10 · KIF5A hereditary spastic paraplegia
Projects
No projects yet.