--- license: permission_granted topic_id: companion_breed_health_papillon_omia4026_dog category: companion-breed-health title: "Papillon — Neuroaxonal dystrophy, PLA2G6-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/papillon_omia4026_4026.txt date_parsed: 2026-08-02 tokens_estimated: 440 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_papillon_omia4026_dog/01_companion_breed_health_papillon_omia4026_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Papillon — Neuroaxonal dystrophy, PLA2G6-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002105/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Papillon — Neuroaxonal dystrophy, PLA2G6-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Papillon (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Neuroaxonal dystrophy in Papillon dogs was fist reported in 1995 in England [Franklin et al., 19851], and has since been reported in several other countries. Tsuboi et al. (2017) identified the likely causal variant.Clin feat: Tsuboi et al. (2017) investigated three affected Papillon dogs: The affected dogs initially developed intention tremor and hypermetria at a very young age, and the symptoms gradually progressed to cerebellar ataxia, tetraplegia, blindness, and deafness. Onset of disease was between 13-16 weeks of age and death occurred between 7 to 8 month of age.Defect: yesPathology: Tsuboi et al. (2017) investigated three affected Papillon dogs: Histopathologically, multiple spheroid formation is observed throughout the central nervous system, including the cerebrum, hippocampus, thalamus, mesencephalon, cerebellum, pons, medulla oblongata, and dorsal horn of the spinal cord, while the peripheral nerves are generally unaffected.Prevalence: Raj and Giger (2020): Archived samples from Papillons clinically diagnosed with NAD prior to 2015 as well as samples obtained from 660 Papillons from North America and Europe between 2015 and 2017 were screened for the presence of this PLA2G6 gene variant (XM_022424454.1:c.1579G A) ... .17.5% of the 660 tested Papillons were heterozygotes, resulting in a variant allele frequency of 0.092 in this initial survey. Since then, screening for NAD in Papillons by at least 10 other laboratories and data from the Health Committee of Papillon Club of America gathered between 2017 and 2019 reveal a variant allele frequency of 0.047.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388248558 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Tsuboi et al. (2017): PLA2G6 c.1579G>A; p.T526A
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1995. Neuroaxonal dystrophy in a litter of papillon pups. J Small Anim Pract — PubMed:PMID8583759 | DOI:10.1111/j.1748-5827.1995.tb02774.x — OMIA Phene_Article / Article
- 2007. Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci — PubMed:PMID17984592 | DOI:10.1292/jvms.69.1047 — OMIA Phene_Article / Article
- 2009. Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol — PubMed:PMID19176506 | DOI:10.1354/vp.08-VP-0156-U-FL — OMIA Phene_Article / Article
- 2007. Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med — PubMed:PMID17552463 | DOI:10.1892/0891-6640(2007)21[531:ndidcr]2.0.co;2 — OMIA Phene_Article / Article
- 2007. Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract — PubMed:PMID17543020 | DOI:10.1111/j.1748-5827.2006.00304.x — OMIA Phene_Article / Article
- 2017. Identification of the PLA2G6 c.1579G>A missense mutation in Papillon dog neuroaxonal dystrophy using whole exome sequencing analysis. PLoS One — PubMed:PMID28107443 | DOI:10.1371/journal.pone.0169002 — OMIA Phene_Article / Article
- 2020. Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine Med Genet — PubMed:PMID33292730 | DOI:10.1186/s40575-020-00098-4 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:256600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:610217 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612953 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:603604 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."