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spastic ataxia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic ataxia 2

MONDO:0012651

Also known as:KIF1C spastic ataxiaSPAX2SPG58

Overview

Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.

GeneticsAutosomal recessive · KIF1C (chr 17)

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: Dysmetria, Dysarthria, and Gait ataxia; and very common findings: Head titubation, Horizontal nystagmus, Tremor, and Overactive reflexes (hyperreflexia). 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Brain shrinkage (cerebral atrophy), Babinski sign, Spastic ataxia

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.

KIF1C encodes kinesin family member 1C (1,103 aa). Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility Highest expression in Muscle Skeletal (308.2 TPM) and Brain Spinal cord cervical c-1 (252.4 TPM).

Spastic ataxia 2 is associated with mutations in the KIF1C gene on chromosome 17.

KIF1C is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIF1C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic ataxia 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 4 very common features, 1 common feature.

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 2.

42 publications have been identified in PubMed for spastic ataxia 2. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (21%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Laboratory research	14	33%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611302

Orphanet

European rare disease database

Orphanet:397946

GARD

Genetic and Rare Diseases Info Center

GARD:17644

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?

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spastic ataxia 2

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 2

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