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

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome (NDGOA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

MONDO:0014209

Also known as:NDGOASPG79neurodegeneration with optic atrophy, childhood-onset

Overview

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

GeneticsAutosomal recessive · UCHL1 (chr 4)

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: Gaze-evoked nystagmus, Ataxia, Intention tremor, and Reduced visual acuity and others; and very common findings: Lower limb spasticity and Babinski sign. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Ataxia, Fasciculations, Lower limb spasticity

Genetic Landscape

UCHL1 function has not been fully characterized.

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is associated with mutations in the UCHL1 gene on chromosome 4.

Diagnosis

Genetic testing for UCHL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 always present features, 2 very common features, 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 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.

208 publications have been identified in PubMed for early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome. Kisho has analyzed 110 by research type. Research spans Review / Meta-Analysis (42%), Basic Science / Preclinical (24%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	46

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615491

Orphanet

European rare disease database

Orphanet:352654

GARD

Genetic and Rare Diseases Info Center

GARD:17523

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

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

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

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

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