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spastic paraplegia 80, autosomal dominant (SPG80) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 80, autosomal dominant

MONDO:0032737

Also known as:SPG80autosomal dominant spastic paraplegia type 80

Overview

GeneticsAutosomal dominant · UBAP1 (chr 9)

ResearchLimited published research (4 articles)

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: Lower limb hyperreflexia; and very common findings: Babinski sign, Lower limb spasticity, and Upper limb hyperreflexia. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Slowness of movement (bradykinesia), Babinski sign, Difficulty walking (gait disturbance)

Genetic Landscape

UBAP1 function has not been fully characterized.

Spastic paraplegia 80, autosomal dominant is associated with mutations in the UBAP1 gene on chromosome 9.

Diagnosis

Genetic testing for UBAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic paraplegia 80, autosomal dominant has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 1 common feature.

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 80, autosomal dominant.

4 publications have been identified in PubMed for spastic paraplegia 80, autosomal dominant. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Carretero-Vilarroig L (2026). [PMID: 41560358](https://pubmed.ncbi.nlm.nih.gov/41560358/). *Eur J Neurol*. [Diagnostic / Biomarker]
Solijon KKL (2025). [PMID: 39801705](https://pubmed.ncbi.nlm.nih.gov/39801705/). *Cureus*. [Case Report / Case Series]
Garg V (2024). [PMID: 38966756](https://pubmed.ncbi.nlm.nih.gov/38966756/). *Front Neurosci*. [Review / Meta-Analysis]
Lee WW (2024). [PMID: 38597354](https://pubmed.ncbi.nlm.nih.gov/38597354/). *Am J Med Genet B Neuropsychiatr Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618418

Orphanet

European rare disease database

Orphanet:631068

Questions for Your Care Team

→Should I pursue genetic testing for UBAP1, 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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spastic paraplegia 80, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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