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spastic paraplegia, optic atropy, and neuropathy (SPOAN) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia, optic atropy, and neuropathy

MONDO:0012297

Also known as:SPOANSPOAN syndromespastic paraplegia, optic atropy, and neuropathy syndrome

Overview

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.

GeneticsAutosomal recessive · KLC2 (chr 11)

OnsetADULT

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Exaggerated startle response; and very common findings: Distal amyotrophy, Dysarthria, Proximal hyperreflexia, and Damage to the optic nerve (optic atrophy). 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Exaggerated startle response, Inability to walk, Babinski sign

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KLC2 encodes kinesin light chain 2 (622 aa). Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. Highest expression in Brain Cerebellar Hemisphere (185.1 TPM) and Brain Cerebellum (180.9 TPM).

Spastic paraplegia, optic atropy, and neuropathy is associated with mutations in the KLC2 gene on chromosome 11.

KLC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KLC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spastic paraplegia, optic atropy, and neuropathy.

1 publication has been identified in PubMed for spastic paraplegia, optic atropy, and neuropathy. Research spans Case Report / Case Series (100%).

Recent Publications

de Macedo Zubko LEB (2025). [PMID: 41044842](https://pubmed.ncbi.nlm.nih.gov/41044842/). *Mov Disord Clin Pract*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609541

Orphanet

European rare disease database

Orphanet:320406

GARD

Genetic and Rare Diseases Info Center

GARD:17479

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spastic paraplegia, optic atropy, and neuropathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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