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Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Neuroaxonal Dystrophy (NAD)
Mutation
c.1579G>A
Test Type
Genetic Disease/Disorder
Details
Neuroaxonal Dystrophy (NAD) is a progressive degeneration of nerve cells causing "spheroids" to form on the nerve endings. Considered to be rare. The nerve cells are no longer able to transmit normally to each other causing the loss of coordination. Early signs include: respiratory failure, scoliosis, joint contractures, progressing to: odd gait, stumbling, poor coordination, tremors especially of the head, no bowel or urine control, increased risk of vitamin E deficenct and pneumonia. Age of onset from birth, sometimes with pre-natal issues: cerebellar hypoplasia. Some dogs do not show symptoms until adulthood.
Details 2
...neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system... rare monogenic hereditary diseases. (From Tsuboi et al, 2017)
Published
Tsuboi, M., Watanabe, M., Nibe, K., Yoshimi, N., Kato, A., Sakaguchi, M., Yamato, O., Tanaka, M., Kuwamura, M., Kushida, K., Ishikura, T., Harada, T., Chambers, J.K., Sugano, S., Uchida, K., Nakayama, H. : Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One 12:e0169002, 2017. Pubmed reference: 28107443. DOI: 10.1371/journal.pone.0169002.
