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fatty acid hydroxylase-associated neurodegeneration (FAHN) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fatty acid hydroxylase-associated neurodegeneration

MONDO:0017999

Also known as:FAHN

Find Clinical TrialsTrials

Overview

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 articles)

Prognosis

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for fatty acid hydroxylase-associated neurodegeneration. Research spans Review / Meta-Analysis (50%), Other (25%), and Basic Science / Preclinical (25%).

Recent Publications

Holla VV (2026). [PMID: 41798181](https://pubmed.ncbi.nlm.nih.gov/41798181/). *Tremor Other Hyperkinet Mov (N Y)*. [Review / Meta-Analysis]
Mertiri L (2025). [PMID: 41320772](https://pubmed.ncbi.nlm.nih.gov/41320772/). *J Neuroimaging*. [Review / Meta-Analysis]
Efendic F (2025). [PMID: 40862740](https://pubmed.ncbi.nlm.nih.gov/40862740/). *Cells*. [Basic Science / Preclinical]
Vilain S (2024). [PMID: 38721530](https://pubmed.ncbi.nlm.nih.gov/38721530/). *Front Cell Dev Biol*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:329308

GARD

Genetic and Rare Diseases Info Center

GARD:10810

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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fatty acid hydroxylase-associated neurodegeneration

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team