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hereditary spastic paraplegia 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 12

MONDO:0011489

Also known as:RTN2 hereditary spastic paraplegiaSPG12autosomal dominant spastic paraplegia 12

Overview

Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

GeneticsAutosomal dominant · RTN2 (chr 19)

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: Impaired vibration sensation in the lower limbs, Urinary urgency, Pes cavus, and Babinski sign and 9 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Babinski sign, Spastic gait, Lower limb spasticity

Genetic Landscape

RTN2 function has not been fully characterized.

Hereditary spastic paraplegia 12 is associated with mutations in the RTN2 gene on chromosome 19.

Diagnosis

Genetic testing for RTN2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 12 has been reported in the published literature.

Prognosis

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 12.

68 publications have been identified in PubMed for hereditary spastic paraplegia 12. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	20	31%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604805

Orphanet

European rare disease database

Orphanet:100993

GARD

Genetic and Rare Diseases Info Center

GARD:9586

Questions for Your Care Team

→Should I pursue genetic testing for RTN2, 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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hereditary spastic paraplegia 12

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

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Recent Publications

hereditary spastic paraplegia 12

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