Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spastic ataxia 3 (ARSAL) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic ataxia 3

MONDO:0012664

Also known as:ARSALMARS2 autosomal recessive spastic ataxiaSPAX3

Overview

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.

GeneticsAutosomal recessive · MARS2 (chr 2)

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: Ataxia, Spasticity, and Overactive reflexes (hyperreflexia); and very common findings: Cerebellar vermis atrophy. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Spastic ataxia, Dystonia, Cerebral cortical atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MARS2 encodes methionyl-tRNA synthetase 2, mitochondrial (593 aa). Highest expression in Cells EBV-transformed lymphocytes (25.8 TPM) and Esophagus Mucosa (7.7 TPM).

Spastic ataxia 3 is associated with mutations in the MARS2 gene on chromosome 2.

MARS2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MARS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic ataxia 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 10 common features.

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 ataxia 3.

33 publications have been identified in PubMed for spastic ataxia 3. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (21%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Patient case studies	10	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611390

Orphanet

European rare disease database

Orphanet:314603

GARD

Genetic and Rare Diseases Info Center

GARD:17425

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

spastic ataxia 3

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

Latest News & Developments

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.

spastic ataxia 3

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

Latest News & Developments

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.