Neuroaxonal Dystrophy Papillon Type (NAD-PAP)
Neuronal Dystrophy, NAD
Neuroaxonal Dystrophy (NAD) is a neurodegenerative disease that affects Papillons and Phalenes worldwide. The disease is characterized by symptoms including head tremors, wobbling gait, and inability to stand or walk. Symptoms appear at a very young age usually between 1-4 months and are clinically characterized by severe axonal swelling with progression to cerebella ataxia, blindness, and deafness with most dogs not surviving beyond 1 year of age.
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These dogs have two copies of the normal gene and will neither develop Neuroaxonal Dystrophy nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Neuroaxonal Dystrophy but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Neuroaxonal Dystrophy which results in neurodegeneration and poor survival beyond 1 year of age.
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 JK, 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. 2017 Jan 20;12(1). [PubMed: 28107443]