spastic paraplegia, optic atropy, and neuropathy
Findings
No curated finding names spastic paraplegia, optic atropy, and neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.
Definition from the Mondo Disease Ontology (MONDO:0012297), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- Exaggerated startle responseHPOHP:0002267
- 22 of 22 reported patients
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- 21 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Distal amyotrophyHPOHP:0003693
- 19 of 22 reported patients · Young adult onset
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 19 of 22 reported patients · Young adult onset
- Frequent (30% to 79% of cases)
- Proximal hyperreflexiaHPOHP:0007054
Genes
2 genes
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.
- KLC2HGNC:20716
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- FLRT1HGNC:3760
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: spastic paraplegia, optic atropy, and neuropathy
- Also called
- spastic paraplegia-optic atrophy-neuropathy syndromeSPOANSPOAN syndrome