Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)

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; Neuroaxonal Dystrophy, Adult; Neuroaxonal Dystrophy, Infantile; Adult Neuroaxonal Dystrophies; Disease, Seitelberger's; Dystrophies, Adult Neuroaxonal; Dystrophies, Infantile Neuroaxonal; Dystrophies, Juvenile Neuroaxonal; Dystrophies, Neuroaxonal; Dystrophy, Adult Neuroaxonal; Dystrophy, Infantile Neuroaxonal; Dystrophy, Juvenile Neuroaxonal; Dystrophy, Neuroaxonal; Infantile Neuroaxonal Dystrophies; Juvenile Neuroaxonal Dystrophies; Neuroaxonal Dystrophies, Adult; Neuroaxonal Dystrophies, Infantile; Neuroaxonal Dystrophies, Juvenile; Seitelberger Disease; Seitelbergers Disease; Neuroaxonal Dystrophy, Juvenile; Seitelberger's Disease
Networked: 123 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Angiokeratoma
2. Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
3. Neurodegenerative Diseases (Neurodegenerative Disease)
4. Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)
5. Diabetic Neuropathies (Diabetic Neuropathy)


1. Schmidt, Robert E: 6 articles (02/2008 - 07/2003)
2. Dorsey, Denise A: 5 articles (10/2006 - 07/2003)
3. Beaudet, Lucie N: 4 articles (10/2006 - 07/2003)
4. Schmidt, R E: 4 articles (12/2001 - 06/2000)
5. Parvin, C A: 4 articles (12/2001 - 06/2000)
6. Dorsey, D A: 4 articles (12/2001 - 06/2000)
7. Manavis, J: 3 articles (08/2015 - 07/2012)
8. Finnie, J W: 3 articles (08/2015 - 07/2012)
9. Bhatia, Kailash P: 3 articles (07/2015 - 01/2009)
10. Hardy, John: 3 articles (07/2015 - 01/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuroaxonal Dystrophies:
1. Lactic AcidFDA LinkGeneric
2. Lysosomal Alpha-N-Acetylgalactosaminidase DeficiencyIBA
3. alpha-N-Acetylgalactosaminidase (N-Acetyl-alpha-D-Galactosaminidase)IBA
5. SialoglycoproteinsIBA
6. Crystallins (Crystallin)IBA
7. IronIBA
8. Phospholipases A2 (Phospholipase A2)IBA
9. Streptozocin (Streptozotocin)FDA Link
10. Neurodegeneration with brain iron accumulation (NBIA)IBA

Therapies and Procedures

1. Transplantation (Transplant Recipients)
2. Denervation