Diseases

Neuroaxonal Dystrophies

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

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MeSH Record

Synonyms

26 entry terms
  • NBIA2A
  • Dystrophy, Neuroaxonal
  • Neuroaxonal Dystrophy
  • Adult Neuroaxonal Dystrophy
  • Infantile Neuroaxonal Dystrophy
  • Juvenile Neuroaxonal Dystrophy
  • Late Infantile Neuroaxonal Dystrophy
  • NBIA, PLA2G6-Related
  • Neuroaxonal Dystrophy, Adult
  • Neuroaxonal Dystrophy, Infantile
  • Neuroaxonal Dystrophy, Juvenile
  • Neuroaxonal Dystrophy, Late Infantile
  • Neurodegeneration With Brain Iron Accumulation 2A
  • Neurodegeneration, PLA2G6-Associated
  • Seitelberger Disease
  • Seitelberger's Disease
  • Disease, Seitelberger
  • Disease, Seitelberger's
  • Dystrophy, Adult Neuroaxonal
  • Dystrophy, Infantile Neuroaxonal
  • Dystrophy, Juvenile Neuroaxonal
  • NBIA, PLA2G6 Related
  • Neurodegeneration, PLA2G6 Associated
  • PLA2G6-Associated Neurodegeneration
  • PLA2G6-Related NBIA
  • Seitelbergers Disease

MeSH Record

Aspects Covered

35 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, congenital, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1997

MeSH Hierarchy

Tree Number

  1. C10w.228w.140w.744

AMA Style

References

  1. National Library of Medicine. Neuroaxonal Dystrophies. Medical Subject Headings (MeSH). 2026. Unique ID D019150. http://id.nlm.nih.gov/mesh/2026/D019150
  2. Neuroaxonal Dystrophies. In: Wikidata. https://www.wikidata.org/wiki/Q18555065