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Disease Neuroaxonal Dystrophies

Name 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 | NBIA2A | NBIA, PLA2G6 Related | NBIA, PLA2G6-Related | Neuroaxonal Dystrophy | Neuroaxonal Dystrophy, Adult | Neuroaxonal Dystrophy, Infantile | Neuroaxonal Dystrophy, Juvenile | Neuroaxonal Dystrophy, Late Infantile | Neurodegeneration, PLA2G6 Associated | Neurodegeneration, PLA2G6-Associated | Neurodegeneration With Brain Iron Accumulation 2A | PLA2G6-Associated Neurodegeneration | PLA2G6-Related NBIA | Seitelberger Disease | Seitelberger's Disease | Seitelbergers Disease
Definition 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)
Categories Nervous system disease
MeSH® ID D019150
External Links

Top ↑ Ancestors

DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Neuroaxonal Dystrophies Has associated chemicals Has associated genes

Top ↑ Descendants

Neuroaxonal Dystrophies Has associated chemicals Has associated genes
  Hunter Carpenter Macdonald syndrome
  Karak Syndrome
  NBIA2B Has associated chemicals Has associated genes
  Neuroaxonal dystrophy renal tubular acidosis
  Neurodegeneration Due To Cerebral Folate Transport Deficiency Has associated chemicals Has associated genes
View node Neurodegeneration with brain iron accumulation (NBIA) Has associated chemicals Has associated genes
  Neuroferritinopathy Has associated chemicals Has associated genes
  Osteopetrosis and infantile neuroaxonal dystrophy
View node Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
  Schindler Disease, Type I Has associated chemicals Has associated genes