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)

Also Known As:

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

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Neuroaxonal Dystrophies: 166

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