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hereditary spastic paraplegia 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 10

MONDO:0011408

Also known as:KIF5A hereditary spastic paraplegiaSPG10autosomal dominant spastic paraplegia 10

Overview

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.

GeneticsAutosomal dominant · KIF5A (chr 12)

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: Babinski sign, Spastic gait, Lower limb muscle weakness, and Lower limb hypertonia; and common findings: Impaired vibration sensation in the lower limbs, Sideways curvature of the spine (scoliosis), Pes cavus, and Urinary urgency and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Parkinsonism, Babinski sign, Ataxia

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.

KIF5A encodes kinesin family member 5A (1,032 aa). Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Highest expression in Brain Cortex (1,160 TPM) and Brain Frontal Cortex BA9 (1,085 TPM).

Hereditary spastic paraplegia 10 is associated with mutations in the KIF5A gene on chromosome 12.

KIF5A is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIF5A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present 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 hereditary spastic paraplegia 10.

73 publications have been identified in PubMed for hereditary spastic paraplegia 10. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	18	25%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604187

Orphanet

European rare disease database

Orphanet:100991

GARD

Genetic and Rare Diseases Info Center

GARD:9590

Questions for Your Care Team

→Should I pursue genetic testing for KIF5A, and what would the results mean for my family?
→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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Kisho

hereditary spastic paraplegia 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spastic paraplegia 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications