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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

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

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

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