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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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Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Year Published |
General information
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.
Clinical features
Onset of signs is typically between 6 and 18 months of age and follows a progressive course of cognitive and motor regression and hypotonia.
Additional information
References
Pubmed ID: 26555167
Omia ID: 1975