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Neuroaxonal Dystrophies MeSH Descriptor Data 2024

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Neuroaxonal Dystrophies
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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
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
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Neuroaxonal Dystrophies Preferred
Late Infantile Neuroaxonal Dystrophy Narrower
Juvenile Neuroaxonal Dystrophy Narrower
Adult Neuroaxonal Dystrophy Narrower
Infantile Neuroaxonal Dystrophy Narrower
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