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Neuroaxonal dystrophy (NAD) is a neurodegenerative pathology of the central and/or peripheral nervous system characterised by local swellings (spheroids) and atrophy of axons.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Neuroaxonal dystrophy (NAD) is a neurodegenerative pathology of the central and/or peripheral nervous system characterised by local swellings (spheroids) and atrophy of axons. Besides presenting as a primary central nervous system disorder, NAD findings may occur associated with aging and secondary to several metabolic-toxic conditions.
Caratteristiche cliniche
L'insorgenza dei sintomi è in genere tra i 6 e i 18 mesi di età e segue un decorso progressivo di regressione cognitiva e motoria, nonché ipotonia.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 26555167
Omia ID: 1975
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