Neuroaxonal dystrophy
MONDO:0002283A 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)
9 clinical trials for this condition and its sub-types, 1 tagged with Neuroaxonal dystrophy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Neuroaxonal dystrophy
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Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types
14 sub-types
- Neurodegeneration with brain iron accumulation 5 4 trials
- Pantothenate kinase-associated neurodegeneration 4 trials Sub-types →
- PLA2G6-associated neurodegeneration 1 trial Sub-types →
- Kufor-Rakeb syndrome 0 trials Sub-types →
- Woodhouse-Sakati syndrome 0 trials
- Aceruloplasminemia 0 trials
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
- Fatty acid hydroxylase-associated neurodegeneration 0 trials
- Neurodegeneration with brain iron accumulation 4 0 trials
- Neurodegeneration with brain iron accumulation 6 0 trials
- Neurodegeneration with brain iron accumulation 7 0 trials
- Neurodegeneration with brain iron accumulation 8 0 trials
- Neurodegeneration with brain iron accumulation 9 0 trials
- Neuroferritinopathy 0 trials
Most studied deeper sub-types
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Vitamin compound studied for rare brain disease PKAN
Disease control CompletedThis study looked at how people with PKAN, a rare genetic brain disorder, respond to a special vitamin metabolite. Researchers wanted to see if it is safe and if it changes any signs of the disease. 77 people aged 3 months to 89 years took part.
Sponsor: Oregon Health and Science University • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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BPAN cell stress study completed: no treatment tested
Knowledge-focused CompletedThis study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the d…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC