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neurodegeneration with ataxia and late-onset optic atrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration with ataxia and late-onset optic atrophy

MONDO:0031006

Also known as:NDAXOA

Overview

GeneticsAutosomal dominant · SDHA (chr 5)

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: Vertigo, Gait ataxia, Limb muscle weakness, and Unsteady gait and others; and common findings: Gaze-evoked nystagmus, Shrinkage of the cerebellum (cerebellar atrophy), Ataxia, and Depression and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Gait ataxia, Ataxia, Depression

Genetic Landscape

SDHA function has not been fully characterized.

Neurodegeneration with ataxia and late-onset optic atrophy is associated with mutations in the SDHA gene on chromosome 5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 13 always present features, 16 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 with ataxia and late-onset optic atrophy.

2 publications have been identified in PubMed for neurodegeneration with ataxia and late-onset optic atrophy. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

Buhl E (2025). [PMID: 40210596](https://pubmed.ncbi.nlm.nih.gov/40210596/). *Clin Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619259

Questions for Your Care Team

→Should I pursue genetic testing for SDHA, 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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neurodegeneration with ataxia and late-onset optic atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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