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Ontology Browser

Parent Terms Term With Siblings Child Terms
Alpers-Huttenlocher syndrome +   
cerebral lipidosis 
hydrocephalus +   
leukodystrophy +   
neuroaxonal dystrophy +   
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)
senile degeneration of brain 

Exact Synonyms: adult neuroaxonal dystrophy ;   juvenile neuroaxonal dystrophy ;   late infantile neuroaxonal dystrophy ;   neuroaxonal dystrophies
Broad Synonyms: PLA2G6-associated neurodegeneration ;   PLA2G6-related NBIA
Primary IDs: MESH:D019150
Alternate IDs: OMIA:000715
Xrefs: NCI:C161542
Definition Sources: MESH:D019150

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