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spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia

MONDO:0957813

Overview

GeneticsAutosomal dominant · SPTAN1 (chr 9)

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, Nystagmus, Paroxysmal dyskinesia, and Sideways curvature of the spine (scoliosis) and others; and very common findings: Upper limb muscle weakness and Abnormal pyramidal sign. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Peripheral axonal neuropathy, Dystonia, Seizure

Genetic Landscape

SPTAN1 function has not been fully characterized.

Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia is associated with mutations in the SPTAN1 gene on chromosome 9.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SPTAN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 2 very common features, 5 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 91, autosomal dominant, with or without cerebellar ataxia.

234 publications have been identified in PubMed for spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia. Research spans Basic Science / Preclinical (27%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	63	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620538

Questions for Your Care Team

→Should I pursue genetic testing for SPTAN1, 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

spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications