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spastic ataxia 11, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic ataxia 11, autosomal dominant

MONDO:0979230

Overview

GeneticsAutosomal dominant

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: Spastic gait, Hyperactive patellar reflex, Lower limb hypertonia, and Difficulty walking (gait disturbance) and others; and very common findings: Difficulty standing, Dysarthria, and Dysdiadochokinesis. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Ataxia, Spastic gait, Fasciculations

Prognosis

Phenotype severity distribution: 7 always present features, 3 very common features, 13 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 ataxia 11, autosomal dominant.

4 publications have been identified in PubMed for spastic ataxia 11, autosomal dominant. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Hines TJ (2026). [PMID: 41889878](https://pubmed.ncbi.nlm.nih.gov/41889878/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Bregant E (2025). [PMID: 40208338](https://pubmed.ncbi.nlm.nih.gov/40208338/). *Human genetics*. [Epidemiology / Natural History]
Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Marelli C (2024). [PMID: 39030458](https://pubmed.ncbi.nlm.nih.gov/39030458/). *Journal of neurology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621226

Questions for Your Care Team

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spastic ataxia 11, autosomal dominant

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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