Dystrophie neuro-axonale (NAD)

The neuroaxonal dystrophy (NAD) is characterised by a histologically distinct neurodegenerative...plus
Disease
The neuroaxonal dystrophy (NAD) is characterised by a histologically distinct neurodegenerative pathology of the central and/or peripheral nervous system. As with most neurological disorders, symptoms may vary and the disease itself is therefore diagnostically nonspecific. The onset of the disease takes place in early development.
In dogs, late-gestational fetal akinesia, multiple joint fixation and pulmonary hypoplasie are found in animals which are homozygous for the mutated allele. Those puppies die at birth due to respiratory failure and exhibit swollen axons and spheroids throughout the nervous system.

A genetic variant in the RNF170 gene has been identified in the Miniature American Shepherd breed that causes NAD. Affected dogs show slowly progressive hind limb weakness and incoordination with onset of symptoms at around two years of age. Slowly progressive signs of T3-L3 myelopathy were observed as the most common clinical presentation, with possible cervical, cerebellar or forebrain signs also developing. Ambulatory paraparesis with hind limb ataxia was evident. No pain or vestibular signs were reported in affected dogs. dogs. Gait abnormalities were always more pronounced during walking compared to faster gaits. Although the progressive disease leads to a poor quality of life, the lifespan of affected dogs is not markedly reduced per se.
Breed
Berger miniature américain, Chien d'eau espagnol, Chien d'eau romagnol, Papillon, Rottweiler
Heredity
autosomal recessive
Test duration
3-5 days after arrival of the sample in the lab (in case of sequencing 1-2 weeks)
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