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spastic ataxia 1 (SPAX1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic ataxia 1

MONDO:0007164

Also known as:SPAX1VAMP1 autosomal dominant spastic ataxiaautosomal dominant spastic ataxia caused by mutation in VAMP1

Find Clinical TrialsTrials

Overview

Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.

GeneticsAutosomal dominant · VAMP1 (chr 12)

Clinical Trials1 registered · 1 recruiting

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: Leg muscle stiffness, Difficulty swallowing (dysphagia), Memory problems (memory impairment), and Spastic ataxia and 10 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Difficulty swallowing (dysphagia), Memory problems (memory impairment), Spastic ataxia

Genetic Landscape

VAMP1 function has not been fully characterized.

Spastic ataxia 1 is associated with mutations in the VAMP1 gene on chromosome 12.

Diagnosis

Genetic testing for VAMP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic ataxia 1 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

30 publications have been identified in PubMed for spastic ataxia 1. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Patient case studies	8	27%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108600

Orphanet

European rare disease database

Orphanet:251282

GARD

Genetic and Rare Diseases Info Center

GARD:17206

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for VAMP1, 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 ataxia 1

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

Explore clinical features

Recent Publications

spastic ataxia 1

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