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spastic paraplegia 79A, autosomal dominant, with ataxia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 79A, autosomal dominant, with ataxia

MONDO:0859363

Overview

GeneticsAutosomal dominant · UCHL1 (chr 4)

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 very common findings: Gait ataxia; and common findings: Peripheral axonal neuropathy, Lower limb hyperreflexia, Impaired vibratory sensation, and Saccadic smooth pursuit interruptions and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Peripheral axonal neuropathy, Difficulty swallowing (dysphagia), Lower limb hyperreflexia

Genetic Landscape

UCHL1 function has not been fully characterized.

Spastic paraplegia 79A, autosomal dominant, with ataxia is associated with mutations in the UCHL1 gene on chromosome 4.

Diagnosis

Genetic testing for UCHL1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 7 common features.

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 79A, autosomal dominant, with ataxia.

1 publication has been identified in PubMed for spastic paraplegia 79A, autosomal dominant, with ataxia. Research spans Review / Meta-Analysis (100%).

Recent Publications

Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Annals of neurology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620221

Questions for Your Care Team

→Should I pursue genetic testing for UCHL1, 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 79A, autosomal dominant, with ataxia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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