Disease Ontology ID: DDTO:0000623
Disease Description: This is a slowly progressive disorder in which swellings (spheroids) develop and accumulate along axons throughout the brain and spinal cord. Axons are the parts of the nerve cells along which impulses travel, and so this condition results in abnormal conduction of nervous impulses, and associated clinical signs such as a high-stepping gait and lack of coordination.
Inherit Mode: Inheritance is believed to be autosomal recessive.
Disease Symptom: Clinical signs are usually first noticed around a year of age, although owners of affected dogs may feel that their puppy was unusually clumsy. Signs seen with this disorder include an awkward or high-stepping gait, poor coordination, and development of a head tremor, all of which gradually worsen over several years. Dogs do not lose their strength over this time.
Disease Cause: -
Disease Diagnose: Diagnosis is made based on breed (rottweiler), clinical signs, and the absence of abnormalities on other diagnostic tests.
Treat Method: There is no treatment. However because the disorder progresses slowly, affected dogs can often function acceptably for many years.
Breeder Advice: Affected dogs and their parents (carriers of the trait) should not be bred. The breeding of siblings (suspect carriers) should also be avoided. Unfortunately, due to its slowly progressive nature, the condition may not be diagnosed until breeding has already occurred.
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Neuroaxonal dystrophy, generic | - | - | - | ||
| Neuroaxonal dystrophy, TECPR2-related | - | - | - | ||
| Neuroaxonal dystrophy, PLA2G6-related | - | Autosomal Recessive | - |
| iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
|---|---|---|---|---|---|
| CB59 | Bullmastiff | Affectionate, Loyal, Brave | 25-27 inches (male), 24-26 inches (female) | 110-130 pounds (male), 100-120 pounds (female) | United Kingdom (England) |
| CB71 | Chihuahua | Graceful, charming, and sassy. | 15.2-22.9 cm | 1.4-2.7 kg | Mexico |
| CB79 | Collie | Graceful, devoted, and proud | 61-66 cm (male), 55.9-61 cm (female) | 27.2-34 kg (male), 22.7-29.5 kg (female) | |
| CB147 | Labrador Retriever | Friendly and outgoing, Labs play well with others | 57.2-62.2 cm (male), 54.6-59.7 cm (female) | 29.5-36.3 kg (male), 24.9-31.8 kg (female) | Canada, United Kingdom (England) |
| CB205 | Rottweiler | Reserved with strangers and affectionate and loyal with his family. | 61-68.6 cm (male), 55.9-63.5 cm (female) | 49.9-59 kg (male), 34.9-49.9 kg (female) | Germany |
| 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 . |
| 2018 |
Lucot,K.L.,Dickinson,P.J.,Finno,C.J.,Mansour,T.A.,Letko,A.,Minor,K.M.,Mickelson,J.R.,Drögemüller,C.,Brown,C.T.,Bannasch,D.L.,Lucot,K.L.,Dickinson,P.J.,Finno,C.J.,Mansour,T.A.,Letko,A.,Minor,K.M.,Mickelson,J.R.,Drögemüller,C.,Brown,C.T.,Bannasch,D.L.: :
A Missense Mutation in the Vacuolar Protein Sorting 11 (<i>VPS11</i>) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. G3 (Bethesda) 8:2773-2780, 2018. Pubmed reference: 29945969 . DOI: 10.1534/g3.118.200376 . |
| 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 . |
| 2016 |
Pintus,D.,Cancedda,M.G.,Macciocu,S.,Contu,C.,Ligios,C.: :
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. Acta Vet Scand 58:37, 2016. Pubmed reference: 27267214 . DOI: 10.1186/s13028-016-0218-3 . |
| 2015 |
Hahn,K.,Rohdin,C.,Jagannathan,V.,Wohlsein,P.,Baumgärtner,W.,Seehusen,F.,Spitzbarth,I.,Grandon,R.,Drögemüller,C.,Jäderlund,K.H.: :
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167 . DOI: 10.1371/journal.pone.0141824 . |
| 2011 |
Fyfe,J.C.,Al-Tamimi,R.A.,Liu,J.,Schäffer,A.A.,Agarwala,R.,Henthorn,P.S.: :
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed reference: 21643798 . DOI: 10.1007/s10048-011-0285-6 . |
| 2010 |
Fyfe,JC.,Al-Tamimi,RA.,Castellani,RJ.,Rosenstein,D.,Goldowitz,D.,Henthorn,PS.: :
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol 518:3771-84, 2010. Pubmed reference: 20653033 . DOI: 10.1002/cne.22423 . |
| 2010 |
Nibe,K.,Nakayama,H.,Uchida,K.: :
Comparative Study of Cerebellar Degeneration in Canine Neuroaxonal Dystrophy, Cerebellar Cortical Abiotrophy, and Neuronal Ceroid-Lipofuscinosis. J Vet Med Sci :, 2010. Pubmed reference: 20585192 . |
| 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 . |
| 2001 |
Sisó,S.,Ferrer,I.,Pumarola,M.: :
Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. Acta Neuropathol 102:501-4, 2001. Pubmed reference: 11699565 . |
| 1999 |
Ackerman L. :
The Genetic Connection: A Guide to Health Problemsin Purebred Dogs AAHA Press,Lakewood, Colorado. pp 140-141 |
| 1997 |
Bennnett,P.F.,Clarke,R.E.: :
Laryngeal paralysis in a rottweiler with neuroaxonal dystrophy Australian Veterinary Journal 75:784-786, 1997. Pubmed reference: 9404606 . |
| 1996 |
March, P.A. :
Degenerative brain disease Vet. Clin. of N.A.Small Animal Practice 26(4): 945-971 |
| 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 . |
| 1995 |
LeCouteur, R.A., Child, G. :
Diseases of the spinal cord W.B. Saunders Co., Toronto. S.J. Ettinger and E.C. Feldman (eds.) Textbook of Veterinary Internal Medicine, p. 629-696 |
| 1993 |
Sacre,B.J.,Cummings,J.F.,Delahunta,A.: :
Neuroaxonal Dystrophy in a Jack Russell Terrier Pup Resembling Human Infantile Neuroaxonal Dystrophy Cornell Veterinarian 83:133-142, 1993. Pubmed reference: 8467699 . |
| 1988 |
Evans,MG.,Mullaney,TP.,Lowrie,CT.: :
Neuroaxonal dystrophy in a rottweiler pup. J Am Vet Med Assoc 192:1560-2, 1988. Pubmed reference: 3410773 . |
| 1984 |
Chrisman,CL.,Cork,LC.,Gamble,DA.: :
Neuroaxonal dystrophy of Rottweiler dogs. J Am Vet Med Assoc 184:464-7, 1984. Pubmed reference: 6698879 . |
| 1983 |
Cork,LC.,Troncoso,JC.,Price,DL.,Stanley,EF.,Griffin,JW.: :
Canine neuroaxonal dystrophy. J Neuropathol Exp Neurol 42:286-96, 1983. Pubmed reference: 6842267 . |
| 1982 |
Clark,R.G.,Hartley,W.J.,Burgess,G.S.,Cameron,J.S.,Mitchell,G.: :
Suspected inherited cerebellar neuroaxonal dystrophy in collie sheep dogs. N Z Vet J 30:102-3, 1982. Pubmed reference: 16030883 . DOI: 10.1080/00480169.1982.34897 . |