The detail information of Neuroaxonal dystrophy, PLA2G6-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2017

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB176 Papillon(Continental Toy Spaniel) 20.3-27.9 cm 2.3-4.5 kg Spain, Belgium, France
Associated Gene
Symbol Description Species Position Other Links
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) Canis lupus familiaris Chr10 : 27290620 - 27351106 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Raj,K.,Giger,U.: :
Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine Med Genet 7:17, 2020.
Pubmed reference: 33292730 . DOI: 10.1186/s40575-020-00098-4 .
2017 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 .
2009 Nibe,K.,Nakayama,H.,Uchida,K.: :
Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol 46:474-83, 2009.
Pubmed reference: 19176506 . DOI: 10.1354/vp.08-VP-0156-U-FL .
2007 Diaz,JV.,Duque,C.,Geisel,R.: :
Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med 21:531-4, 2007.
Pubmed reference: 17552463 .
2007 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 69:1047-52, 2007.
Pubmed reference: 17984592 .
2007 Tamura,S.,Tamura,Y.,Uchida,K.: :
Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract 48:458-61, 2007.
Pubmed reference: 17543020 . DOI: 10.1111/j.1748-5827.2006.00304.x .
1995 Franklin,R.J.M.,Jeffery,N.D.,Ramsey,I.K.: :
Neuroaxonal dystrophy in a litter of papillon pups Journal of Small Animal Practice 36:441-444, 1995.
Pubmed reference: 8583759 .