hereditary spastic paraplegia 10
Findings
No curated finding names hereditary spastic paraplegia 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal 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.
Definition from the Mondo Disease Ontology (MONDO:0011408), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Babinski signHPOHP:0003487
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb hypertoniaHPOHP:0006895
- 8 of 8 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Obligate (100% of cases)
- Spastic gaitHPOHP:0002064
- 4 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIF5AHGNC:6323
- Strong · Ambry Genetics · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 10
- Also called
- autosomal dominant spastic paraplegia type 10hereditary spastic paraplegia caused by mutation in KIF5Ahereditary spastic paraplegia type 10KIF5A hereditary spastic paraplegiaSPG10