"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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2010 | 0 | 1 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2020 | 1 | 1 | 2 |
2023 | 3 | 0 | 3 |
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Below are the most recent publications written about "Neuroaxonal Dystrophies" by people in Profiles.
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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy. HGG Adv. 2023 Oct 12; 4(4):100236.
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The role of the PLA2G6 gene in neurodegenerative diseases. Ageing Res Rev. 2023 08; 89:101957.
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Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14). Elife. 2023 01 16; 12.
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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 01; 82:84-86.
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CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression. J Med Genet. 2021 07; 58(7):484-494.
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Phenotypic and Imaging Spectrum Associated With WDR45. Pediatr Neurol. 2020 08; 109:56-62.
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Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Mol Genet Genomic Med. 2019 07; 7(7):e00736.
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PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. Parkinsonism Relat Disord. 2019 04; 61:179-186.
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Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. Mov Disord. 2010 Oct 30; 25(14):2470-2.
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Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Am J Pathol. 2008 Feb; 172(2):406-16.