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Neuroaxonal Dystrophies MeSH Descriptor Data 2021


MeSH Heading
Neuroaxonal Dystrophies
Tree Number(s)
C10.228.140.744
Unique ID
D019150
RDF Unique Identifier
http://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)
Entry Term(s)
Adult Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy
NBIA, PLA2G6-Related
NBIA2A
Neuroaxonal Dystrophy, Adult
Neuroaxonal Dystrophy, Infantile
Neuroaxonal Dystrophy, Juvenile
Neuroaxonal Dystrophy, Late Infantile
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, PLA2G6-Associated
Seitelberger Disease
Seitelberger's Disease
Public MeSH Note
1997
History Note
1997
Date Established
1997/01/01
Date of Entry
1996/06/10
Revision Date
2013/07/08
Neuroaxonal Dystrophies Preferred
Late Infantile Neuroaxonal Dystrophy Narrower
Juvenile Neuroaxonal Dystrophy Narrower
Adult Neuroaxonal Dystrophy Narrower
Infantile Neuroaxonal Dystrophy Narrower
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