Neuroaxonal Dystrophy (NAD)

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Related Terms: INAD, Infantile Neuroaxonal Dystrophy, PLA2G6, PLA2G6-Associated Neurodegeneration, PLAN

Type: DNA

Sample Types: Fresh EDTA blood or Cheek brushes/swabs

1–4 months of age

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - Papillon

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Clinical signs include gait abnormalities, hindlimb weakness, ataxia, tremors, deafness, and extension of limbs that progress to paralysis and blindness.

Euthanasia or death within 2–4 months after diagnosis

Autosomal recessive

Severe axonal swelling (spheroids) throughout the nervous system.

PLA2G6 and XM_022424454.1:c.1579G>A

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Neuroaxonal Dystrophy (NAD) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Neuroaxonal Dystrophy (NAD) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Neuroaxonal Dystrophy (NAD) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Raj K, Giger U. Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine Med Genet. 2020 Nov 30;7(1):17. doi: 10.1186/s40575-020-00098-4. PMID: 33292730; PMCID: PMC7706237. 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):e0169002. doi: 10.1371/journal.pone.0169002. PMID: 28107443; PMCID: PMC5249094. Nibe K, Nakayama H, Uchida K. Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol. 2009 May;46(3):474-83. doi: 10.1354/vp.08-VP-0156-U-FL. Epub 2009 Jan 27. PMID: 19176506. Nibe K, Kita C, Morozumi M, Awamura Y, Tamura S, Okuno S, Kobayashi T, Uchida K. Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci. 2007 Oct;69(10):1047-52. doi: 10.1292/jvms.69.1047. PMID: 17984592. Tamura S, Tamura Y, Uchida K. Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract. 2007 Aug;48(8):458-61. doi: 10.1111/j.1748-5827.2006.00304.x. Epub 2007 Jun 2. PMID: 17543020. Diaz JV, Duque C, Geisel R. Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med. 2007 May-Jun;21(3):531-4. doi: 10.1892/0891-6640(2007)21[531:ndidcr]2.0.co;2. PMID: 17552463. Franklin RJ, Jeffery ND, Ramsey IK. Neuroaxonal dystrophy in a litter of papillon pups. J Small Anim Pract. 1995 Oct;36(10):441-4. doi: 10.1111/j.1748-5827.1995.tb02774.x. PMID: 8583759.