Neuroaxonal Dystrophies
"Neuroaxonal Dystrophies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D019150
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MeSH Number(s) |
C10.228.140.744
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Concept/Terms |
Infantile Neuroaxonal Dystrophy- Infantile Neuroaxonal Dystrophy
- Dystrophy, Infantile Neuroaxonal
- Neuroaxonal Dystrophy, Infantile
- Seitelberger's Disease
- Disease, Seitelberger's
- Seitelbergers Disease
- Neurodegeneration, PLA2G6-Associated
- Neurodegeneration, PLA2G6 Associated
- PLA2G6-Associated Neurodegeneration
- Seitelberger Disease
- Disease, Seitelberger
- NBIA, PLA2G6-Related
- NBIA, PLA2G6 Related
- PLA2G6-Related NBIA
- Neurodegeneration With Brain Iron Accumulation 2A
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Below are MeSH descriptors whose meaning is more general than "Neuroaxonal Dystrophies".
Below are MeSH descriptors whose meaning is more specific than "Neuroaxonal Dystrophies".
This graph shows the total number of publications written about "Neuroaxonal Dystrophies" by people in this website by year, and whether "Neuroaxonal Dystrophies" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2014 | 1 | 0 | 1 | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Neuroaxonal Dystrophies" by people in Profiles.
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Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature. Orphanet J Rare Dis. 2023 Jul 13; 18(1):187.
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Goyal M, Bijarnia-Mahay S, Kingsmore S, Farrow E, Saunders C, Saxena R, Verma IC. Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing. Indian J Pediatr. 2015 May; 82(5):474-7.
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