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 |
Neuroaxonal Dystrophies- Neuroaxonal Dystrophies
- Dystrophies, Neuroaxonal
- Dystrophy, Neuroaxonal
- Neuroaxonal Dystrophy
- NBIA2A
Infantile Neuroaxonal Dystrophy- Infantile Neuroaxonal Dystrophy
- Dystrophies, Infantile Neuroaxonal
- Dystrophy, Infantile Neuroaxonal
- Infantile Neuroaxonal Dystrophies
- Neuroaxonal Dystrophies, Infantile
- Seitelberger's Disease
- Disease, Seitelberger's
- Seitelbergers Disease
- Neurodegeneration, Pla2g6-Associated
- Neurodegeneration, Pla2g6 Associated
- Pla2g6-Associated Neurodegeneration
- Seitelberger Disease
- Disease, Seitelberger
- Neuroaxonal Dystrophy, Infantile
- Neurodegeneration With Brain Iron Accumulation 2a
Adult Neuroaxonal Dystrophy- Adult Neuroaxonal Dystrophy
- Adult Neuroaxonal Dystrophies
- Dystrophies, Adult Neuroaxonal
- Dystrophy, Adult Neuroaxonal
- Neuroaxonal Dystrophies, Adult
- Neuroaxonal Dystrophy, Adult
Juvenile Neuroaxonal Dystrophy- Juvenile Neuroaxonal Dystrophy
- Dystrophies, Juvenile Neuroaxonal
- Dystrophy, Juvenile Neuroaxonal
- Juvenile Neuroaxonal Dystrophies
- Neuroaxonal Dystrophies, Juvenile
- Neuroaxonal Dystrophy, Juvenile
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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 UAMS Profiles by year, and whether "Neuroaxonal Dystrophies" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2022 | 2 | 0 | 2 | 2019 | 1 | 0 | 1 | 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Neuroaxonal Dystrophies" by people in Profiles over the past ten years.
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Samanta D, Ramakrishnaiah R, Frye RE. Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status. Neurol India. 2022 Sep-Oct; 70(5):2265-2267.
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Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. PLA2G6-associated neurodegeneration in four different populations-case series and literature review. Parkinsonism Relat Disord. 2022 08; 101:66-74.
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Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Mol Genet Genomic Med. 2019 07; 7(7):e00736.
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Samanta D, Ramakrishnaiah R, Frye RE. Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status. Neurol India. 2019 Jan-Feb; 67(1):259-260.
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Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Lessons from a pair of siblings with BPAN. Eur J Hum Genet. 2016 07; 24(7):1080-3.
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