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

neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

MONDO:0030028

Also known as:CONATOC

Overview

GeneticsAutosomal recessive · SLC44A1 (chr 9)

OnsetNEONATAL

ResearchLimited published research (1 article)

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: Urinary incontinence and Damage to the optic nerve (optic atrophy); and very common findings: Difficulty swallowing (dysphagia), Dysarthria, Progressive cerebellar ataxia, and Slow saccadic eye movements and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Clonus, Difficulty swallowing (dysphagia), Delayed speech and language development

Genetic Landscape

SLC44A1 function has not been fully characterized.

Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline is associated with mutations in the SLC44A1 gene on chromosome 9.

Diagnosis

Genetic testing for SLC44A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 5 very common features, 10 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 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline.

1 publication has been identified in PubMed for neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline. Research spans Case Report / Case Series (100%).

Recent Publications

Barut D (2025). [PMID: 40161924](https://pubmed.ncbi.nlm.nih.gov/40161924/). *Mol Genet Metab Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 2:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618868

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

neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features