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