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| Descriptor English: | Neuroaxonal Dystrophies | ||||||
| Descriptor Spanish: |
Distrofias Neuroaxonales
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| Descriptor Portuguese: | Distrofias Neuroaxonais | ||||||
| Descriptor French: | Dystrophies neuroaxonales | ||||||
| Entry term(s): |
Adult Neuroaxonal Dystrophy Disease, Seitelberger Disease, Seitelberger's Dystrophy, Adult Neuroaxonal Dystrophy, Infantile Neuroaxonal Dystrophy, Juvenile Neuroaxonal Dystrophy, Neuroaxonal Infantile Neuroaxonal Dystrophy Juvenile Neuroaxonal Dystrophy Late Infantile Neuroaxonal Dystrophy NBIA, PLA2G6 Related NBIA, PLA2G6-Related NBIA2A Neuroaxonal Dystrophy Neuroaxonal Dystrophy, Adult Neuroaxonal Dystrophy, Infantile Neuroaxonal Dystrophy, Juvenile Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation 2A Neurodegeneration, PLA2G6 Associated Neurodegeneration, PLA2G6-Associated PLA2G6-Associated Neurodegeneration PLA2G6-Related NBIA Seitelberger Disease Seitelberger's Disease Seitelbergers Disease |
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| Tree number(s): |
C10.228.140.744 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D019150 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1997 |
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| History Note: | 1997 |
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| DeCS ID: | 32947 | ||||||
| Unique ID: | D019150 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1997/01/01 | ||||||
| Date of Entry: | 1996/06/10 | ||||||
| Revision Date: | 2013/07/08 |
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Neuroaxonal Dystrophies
- Preferred
Late Infantile Neuroaxonal Dystrophy
- Narrower
Juvenile Neuroaxonal Dystrophy
- Narrower
Adult Neuroaxonal Dystrophy
- Narrower
Infantile Neuroaxonal Dystrophy
- Narrower
| Concept UI |
M0028551 |
| Scope note | 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) |
| Preferred term | Neuroaxonal Dystrophies |
| Entry term(s) |
Dystrophy, Neuroaxonal NBIA2A Neuroaxonal Dystrophy |
| Concept UI |
M0335765 |
| Preferred term | Late Infantile Neuroaxonal Dystrophy |
| Entry term(s) |
Neuroaxonal Dystrophy, Late Infantile |
| Concept UI |
M0335763 |
| Preferred term | Juvenile Neuroaxonal Dystrophy |
| Entry term(s) |
Dystrophy, Juvenile Neuroaxonal Neuroaxonal Dystrophy, Juvenile |
| Concept UI |
M0335764 |
| Preferred term | Adult Neuroaxonal Dystrophy |
| Entry term(s) |
Dystrophy, Adult Neuroaxonal Neuroaxonal Dystrophy, Adult |
| Concept UI |
M0028550 |
| Preferred term | Infantile Neuroaxonal Dystrophy |
| Entry term(s) |
Disease, Seitelberger Disease, Seitelberger's Dystrophy, Infantile Neuroaxonal NBIA, PLA2G6 Related NBIA, PLA2G6-Related Neuroaxonal Dystrophy, Infantile Neurodegeneration With Brain Iron Accumulation 2A Neurodegeneration, PLA2G6 Associated Neurodegeneration, PLA2G6-Associated PLA2G6-Associated Neurodegeneration PLA2G6-Related NBIA Seitelberger Disease Seitelberger's Disease Seitelbergers Disease |
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