Neuroaxonal Dystrophies
Recent clinical, regulatory, research and industry developments relating to this disease.
Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes7
- Carrier Proteins1
- Dependovirus1
- Genetic Therapy1
- Genetic Vectors1
- Neuroaxonal Dystrophies1
- Neurodegenerative Diseases1
- Quality of Life1
Leading journals2
- Human gene therapy1
- Journal of child neurology1
Leading researchers8
- Adang LA1
- Bishop M1
- Carisi MC1
- Chandrachud U1
- Dubbs H1
- Gavazzi F1
- Grishchuk Y1
- Kotes E1
Affiliations (unnormalised)5
- Center for Genomic Medicine and Department of Neurology1
- Children's Hospital of Philadelphia1
- Perelman School of Medicine1
- Sanford Research Institute1
- Vanderbilt School of Medicine1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Reference
Authoritative identity, definition & identifiers.
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)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.