"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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2017 | 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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Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, Yamato O, Tanaka M, Kuwamura M, Kushida K, Ishikura T, Harada T, Chambers JK, Sugano S, Uchida K, Nakayama H. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One. 2017; 12(1):e0169002.