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Neuroaxonal dystrophy

disorder
SNOMED 230365004CUI C0338473

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Neuroaxonal Dystrophies" from the MEDLINE/PubMed database.

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Iron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.
[object Object], [object Object], [object Object] et al. · Mol Neurobiol · 2025
PMID: 41276763ReviewFull text (PMC)
Metabolic impairments in neurodegeneration with brain iron accumulation.
[object Object], [object Object], [object Object] et al. · Biochim Biophys Acta Bioenerg · 2025
PMID: 39366438Review
Consensus Clinical Management Guideline for-Associated Neurodegeneration (PLAN).
[object Object], [object Object], [object Object] et al. · J Child Neurol · 2025
PMID: 40262088ReviewFull text (PMC)
Neurodegeneration with Brain Iron Accumulation.
[object Object], [object Object] · Adv Exp Med Biol · 2025
PMID: 40603798Review
Iron Dyshomeostasis in Neurodegeneration with Brain Iron Accumulation (NBIA): Is It the Cause or the Effect?
[object Object], [object Object], [object Object] · Cells · 2024
PMID: 39195264ReviewFull text (PMC)
Current insights into equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy.
[object Object], [object Object] · Vet J · 2024
PMID: 38734404Review
The role of the PLA2G6 gene in neurodegenerative diseases.
[object Object], [object Object], [object Object] et al. · Ageing Res Rev · 2023
PMID: 37236368Review
Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.
[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2023
PMID: 36750760Review
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2023
PMID: 37443037ReviewFull text (PMC)
Cerebral Iron Deposition in Neurodegeneration.
[object Object], [object Object], [object Object] et al. · Biomolecules · 2022
PMID: 35625641ReviewFull text (PMC)
Search all PubMed articles for Neuroaxonal dystrophy

Research data from MEDLINE/PubMed

Related Conditions

Late infantile and juvenile neuroaxonal dystrophy(child)
Neuroaxonal leukodystrophy(child)
Infantile neuroaxonal dystrophy(child)
Degenerative brain disorder(parent)

Quick Facts

SNOMED CT
230365004
UMLS CUI
C0338473
Fully Specified Name
Neuroaxonal dystrophy (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.