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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 and Robertson, Textbook of Neuropathology, 2nd ed, p927)

Year introduced: 1997

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Tree Number(s): C10.228.140.744

MeSH Unique ID: D019150

Entry Terms:

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

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