Disease Description: Gait problems, characterized by an uncoordinated movement and loss of balance, is known as ataxia in veterinary terms. A sensory dysfunction, ataxia can display many symptoms including tremors and postural abnormalities.
Inherit Mode: -
Disease Symptom: Symptoms that could accompany the unbalanced gait are listed here. Nausea and vomiting due to equilibrium problems; Loss of appetite because of the nausea ;Head tilt which keeps one ear lower than the other ;Reduction in hearing abilities; Changes in mental state ;Behavioral differences like a lack of bladder control in the house; Abnormal eye movement (up and down or side to side); Loss of limb coordination which could include limb crossover, large steps and a wide stance ;Staggering, falling, swaying, drifting, and circling Tremors Dizziness.
Disease Cause: Vestibular ataxia: Immune-related illnesses ;Cancer; Trauma to the ear; Poisoning ;Fungal infection Idiopathic (unknown).Proprioceptive (sensory) ataxia: Cysts; Nerve degeneration ;Blood clot ;Cancer; Infection; Trauma.Cerebellar ataxia :Cell degeneration; Hereditary factors; Congenital (present at birth); Brain tumor; Infection.
Disease Diagnose: Your veterinary team will assess your dog’s gait, providing assistance to him if needed when walking or standing. The gait of your dog can tell the experienced eye of your veterinarian much about what is happening in relation to the health of your pet. The analysis will involve watching your pet walk, and possibly observing him attempting stairs, all the while keeping the safety of your dog paramount. The physical examination will also include neurological, reflex, and limb sensitivity tests. Imaging tests may be done to reach a definitive conclusion.
Treat Method: Often, eliminating the underlying cause (through surgery for a tumor, chemotherapy, and radiation for cancer, or medication for an infection for example) will relieve the unbalanced gait and coordination issues. In some cases, though, effects will remain. For instance, your pet could live with a permanent degree of head tilt, or the remnants of a gait abnormality. There are dogs who have a good quality of life, even though they have balance problems. Hereditary and congenital imbalance conditions have no cure.
Breeder Advice: To begin, we must face the reality that some pets who are left with very severe effects from unbalanced gait, or have an ataxia condition that progresses to a state of incapacitation, will be euthanized because they are unable to cope or continue. Supportive care is the key to a happy, comfortable life for a dog with less severe, yet nonetheless permanent, effects from ataxia. You must maintain a safe environment for your much-loved canine family member. Monitoring your pet at all times when you are home, and keeping his living space free from potential injury (such as blocking access to stairs) will be a necessity. When you leave your dog, alone in the house, confinement to a crate or a safe area will be in his best interest.
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Ataxia, cerebellar, neonatal, GRM1-related | Bandera's neonatal ataxia | Autosomal Recessive | GRM1 | ||
| Ataxia, progressive, with head tremor and seizures | - | - | - | - | |
| Ataxia, cerebellar, progressive early-onset, SEL1L-related | - | Autosomal Recessive | - | SEL1L | |
| Ataxia, spinocerebellar, CAPN1-related | spinocerebellar ataxia, hereditary ataxia | Autosomal Recessive | CAPN1 | ||
| Ataxia, cerebellar, juvenile to adolescent, RAB24-related | Canine hereditary ataxia | Autosomal Recessive | - | RAB24 | |
| Ataxia, cerebellar, KCNJ10-related | Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1) | Autosomal Recessive | KCNJ10 | ||
| Ataxia, spinocerebellar, SPTBN2-related | Neonatal cerebellar cortical degeneration | Autosomal Recessive | SPTBN2 | ||
| Ataxia, spinocerebellar, ITPR1-related | Spinocerebellar ataxia | Autosomal Recessive | ITPR1 | ||
| Ataxia, cerebellar, ATP1B2-related | Spongy degeneration with cerebellar ataxia 2 | Autosomal Recessive | - | ATP1B2 |
| 2020 |
Jenkins,C.A.,Kalmar,L.,Matiasek,K.,Mari,L.,Kyöstilä,K.,Lohi,H.,Schofield,E.C.,Mellersh,C.S.,DeRisio,L.,Ricketts,S.L.: :
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692 . DOI: 10.1371/journal.pgen.1008527 . |
| 2019 |
Lewis,T.W.,Mellersh,C.S.: :
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864 . |
| 2019 |
Letko,A.,Dietschi,E.,Nieburg,M.,Jagannathan,V.,Gurtner,C.,Oevermann,A.,Drögemüller,C.,Letko,A.,Dietschi,E.,Nieburg,M.,Jagannathan,V.,Gurtner,C.,Oevermann,A.,Drögemüller,C.: :
A Missense Variant in <i>SCN8A</i> in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel) 10:, 2019. Pubmed reference: 31083464 . DOI: 10.3390/genes10050362 . |
| 2019 |
VanPoucke,M.,Stee,K.,Sonck,L.,Stock,E.,Bosseler,L.,VanDorpe,J.,VanNieuwerburgh,F.,Deforce,D.,Peelman,L.J.,VanHam,L.,Bhatti,S.F.M.,Broeckx,B.J.G.: :
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet 27:1561-1568, 2019. Pubmed reference: 31160700 . DOI: 10.1038/s41431-019-0432-3 . |
| 2018 |
Mari,L.,Matiasek,K.,Jenkins,C.A.,DeStefani,A.,Ricketts,S.L.,Forman,O.,DeRisio,L.: :
Hereditary ataxia in four related Norwegian Buhunds. J Am Vet Med Assoc 253:774-780, 2018. Pubmed reference: 30179085 . DOI: 10.2460/javma.253.6.774 . |
| 2017 |
Bockenhauer,D.,Kleta,R.: :
Of dogs and men. Eur J Hum Genet. 25:161 only, 2017. Pubmed reference: 28079058 . DOI: 10.1038/ejhg.2016.161 . |
| 2017 |
Mauri,N.,Kleiter,M.,Leschnik,M.,Högler,S.,Dietschi,E.,Wiedmer,M.,Dietrich,J.,Henke,D.,Steffen,F.,Schuller,S.,Gurtner,C.,Stokar-Regenscheit,N.,O'Toole,D.,Bilzer,T.,Herden,C.,Oevermann,A.,Jagannathan,V.,Leeb,T.: :
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda) 7:663-669, 2017. Pubmed reference: 28007838 . DOI: 10.1534/g3.116.038455 . |
| 2017 |
VanPoucke,M.,Stee,K.,Bhatti,S.F.,Vanhaesebrouck,A.,Bosseler,L.,Peelman,L.J.,VanHam,L.: :
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs Eur J Hum Genet. 25:222-226, 2017. Pubmed reference: 27966545 . DOI: 10.1038/ejhg.2016.157 . |
| 2017 |
Mauri,N.,Kleiter,M.,Dietschi,E.,Leschnik,M.,Högler,S.,Wiedmer,M.,Dietrich,J.,Henke,D.,Steffen,F.,Schuller,S.,Gurtner,C.,Stokar-Regenscheit,N.,O'Toole,D.,Bilzer,T.,Herden,C.,Oevermann,A.,Jagannathan,V.,Leeb,T.: :
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda) 7:2729-2737, 2017. Pubmed reference: 28620085 . DOI: 10.1534/g3.117.043018 . |
| 2016 |
Gan-Or,Z.,Bouslam,N.,Birouk,N.,Lissouba,A.,Chambers,D.B.,Vérièpe,J.,Androschuk,A.,Laurent,S.B.,Rochefort,D.,Spiegelman,D.,Dionne-Laporte,A.,Szuto,A.,Liao,M.,Figlewicz,D.A.,Bouhouche,A.,Benomar,A.,Yahyaoui,M.,Ouazzani,R.,Yoon,G.,Dupré,N.,Suchowersky,O.,Bolduc,F.V.,Parker,J.A.,Dion,P.A.,Drapeau,P.,Rouleau,G.A.,Bencheikh,B.O.: :
[Correction to] Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics 98:1271, 2016. Pubmed reference: 27259058 . DOI: 10.1016/j.ajhg.2016.05.009 . |
| 2016 |
Gan-Or,Z.,Bouslam,N.,Birouk,N.,Lissouba,A.,Chambers,D.B.,Vérièpe,J.,Androschuk,A.,Laurent,S.B.,Rochefort,D.,Spiegelman,D.,Dionne-Laporte,A.,Szuto,A.,Liao,M.,Figlewicz,D.A.,Bouhouche,A.,Benomar,A.,Yahyaoui,M.,Ouazzani,R.,Yoon,G.,Dupré,N.,Suchowersky,O.,Bolduc,F.V.,Parker,J.A.,Dion,P.A.,Drapeau,P.,Rouleau,G.A.,OuledAmarBencheikh,B.: :
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet 98:1038-1046, 2016. Pubmed reference: 27153400 . DOI: 10.1016/j.ajhg.2016.04.002 . |
| 2016 |
Wang,Y.,Hersheson,J.,Lopez,D.,Hammer,M.,Liu,Y.,Lee,K.H.,Pinto,V.,Seinfeld,J.,Wiethoff,S.,Sun,J.,Amouri,R.,Hentati,F.,Baudry,N.,Tran,J.,Singleton,A.B.,Coutelier,M.,Brice,A.,Stevanin,G.,Durr,A.,Bi,X.,Houlden,H.,Baudry,M.: :
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Reports 16:79-91, 2016. Pubmed reference: 27320912 . DOI: 10.1016/j.celrep.2016.05.044 . |
| 2016 |
Gast,A.C.,Metzger,J.,Tipold,A.,Distl,O.: :
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Vet Res 12:225, 2016. Pubmed reference: 27724896 . DOI: 10.1186/s12917-016-0862-x . |
| 2016 |
Stee,K.,VanPoucke,M.,Bhatti,S.,Vanhaesebrouck,A.,Bosseler,L.,Peelman,L.,VanHam,L.: :
The novel homozygous KCNJ10 c.986T>C (p.Leu329-Pro) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs (conference abstract) Journal of Veterinary Internal Medicine (Proceedings 29th Symposium ESVN-ECVN Edinburgh, United Kingdom 16th–17th September 2016) 30:1934 only, 2016. |
| 2015 |
Rohdin,C.,Gilliam,D.,O'Leary,C.A.,O'Brien,D.P.,Coates,J.R.,Johnson,G.S.,Jäderlund,K.H.: :
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Vet Scand 57:26, 2015. Pubmed reference: 25998802 . DOI: 10.1186/s13028-015-0115-1 . |
| 2015 |
Forman,O.P.,DeRisio,L.,Matiasek,K.,Platt,S.,Mellersh,C.: :
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome 26:108-17, 2015. Pubmed reference: 25354648 . DOI: 10.1007/s00335-014-9547-6 . |
| 2014 |
Cherubini,G.B.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736826 . DOI: 10.1136/vr.g1973 . |
| 2014 |
Palmer,T.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736825 . DOI: 10.1136/vr.g1972 . |
| 2014 |
Agler,C.,Nielsen,D.M.,Urkasemsin,G.,Singleton,A.,Tonomura,N.,Sigurdsson,S.,Tang,R.,Linder,K.,Arepalli,S.,Hernandez,D.,Lindblad-Toh,K.,vandeLeemput,J.,Motsinger-Reif,A.,O'Brien,D.P.,Bell,J.,Harris,T.,Steinberg,S.,Olby,N.J.: :
Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genet 10:e1003991, 2014. Pubmed reference: 24516392 . DOI: 10.1371/journal.pgen.1003991 . |
| 2014 |
Cherubini,G.B.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736826 . DOI: 10.1136/vr.g1973 . |
| 2014 |
Gilliam,D.,O'Brien,D.P.,Coates,J.R.,Johnson,G.S.,Johnson,G.C.,Mhlanga-Mutangadura,T.,Hansen,L.,Taylor,J.F.,Schnabel,R.D.: :
A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med 28:871-7, 2014. Pubmed reference: 24708069 . DOI: 10.1111/jvim.12355 . |
| 2014 |
Palmer,T.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736825 . DOI: 10.1136/vr.g1972 . |
| 2013 |
Forman,O.P.,DeRisio,L.,Mellersh,C.S.: :
Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One 8:e64627, 2013. Pubmed reference: 23741357 . DOI: 10.1371/journal.pone.0064627 . |
| 2012 |
Kyöstilä,K.,Cizinauskas,S.,Seppälä,E.H.,Suhonen,E.,Jeserevics,J.,Sukura,A.,Syrjä,P.,Lohi,H.: :
A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery. PLoS Genet 8:e1002759, 2012. Pubmed reference: 22719266 . DOI: 10.1371/journal.pgen.1002759 . |
| 2012 |
Simpson,K.,Eminaga,S.,Cherubini,G.B.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 170:548, 2012. Pubmed reference: 22634896 . DOI: 10.1136/vr.e3642 . |
| 2012 |
Vanhaesebrouck,A.,Franklin,R.,VanHam,L.,Bhatti,S.: :
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. Vet Rec 171:131-2, 2012. Pubmed reference: 22872628 . DOI: 10.1136/vr.e5021 . |
| 2012 |
Simpson,K.,Eminaga,S.,Cherubini,G.B.: :
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 170:548, 2012. Pubmed reference: 22634896 . DOI: 10.1136/vr.e3642 . |
| 2012 |
Vanhaesebrouck,A.,Franklin,R.,VanHam,L.,Bhatti,S.: :
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. Vet Rec 171:131-2, 2012. Pubmed reference: 22872628 . DOI: 10.1136/vr.e5021 . |
| 2012 |
Forman,O.P.,DeRisio,L.,Stewart,J.,Mellersh,C.S.,Beltran,E.: :
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464 . DOI: 10.1186/1471-2156-13-55 . |
| 2011 |
Zeng,R.,Farias,FH.,Johnson,GS.,McKay,SD.,Schnabel,RD.,Decker,JE.,Taylor,JF.,Mann,CS.,Katz,ML.,Johnson,GC.,Coates,JR.,O'Brien,DP.: :
A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia. J Vet Intern Med 25:267-72, 2011. Pubmed reference: 21281350 . DOI: 10.1111/j.1939-1676.2010.0666.x . |
| 2011 |
Kleiter,M.,Högler,S.,Kneissl,S.,Url,A.,Leschnik,M.: :
Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder? J Vet Intern Med 25:490-6, 2011. Pubmed reference: 21488963 . DOI: 10.1111/j.1939-1676.2011.0720.x . |
| 2004 |
Wessmann,A.,Goedde,T.,Fischer,A.,Wohlsein,P.,Hamann,H.,Distl,O.,Tipold,A.: :
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med 18:515-21, 2004. Pubmed reference: 15320590 . |
| 2004 |
Wessmann,A.,Goedde,T.,Fischer,A.,Wohlsein,P.,Hamann,H.,Distl,O.,Tipold,A.: :
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med 18:515-21, 2004. Pubmed reference: 15320590 . |
| 2002 |
Coates,J.R.,O'Brien,D.P.,Kline,K.L.,Storts,R.W.,Johnson,G.C.,Shelton,G.D.,Patterson,E.E.,Abbott,L.C.: :
Neonatal cerebellar ataxia in Coton de Tulear dogs Journal of Veterinary Internal Medicine 16:680-9, 2002. Pubmed reference: 12465765 . |
| 2002 |
Jolly,R.D.,Schraa,I.,Halsey,T.R.: :
Progressive ataxia and seizures in a Cocker Spaniel: a new type of neurodegenerative disease with novel intra-neuronal inclusions New Zealand Veterinary Journal 50:203-206, 2002. |
| 2000 |
Steinberg,K.S.,Van,Winkle,T.,Bell,J.S.,de,Lahunta,A.: :
Cerebellar degeneration in Old English Sheepdogs Journal of the American Veterinary Medical Association 217:1162-1165, 2000. Pubmed reference: 11043686 . |
| 1993 |
Moses,P.A.: :
Cerebellar Ataxia in Jack Russell Terriers Veterinary Record 133:508, 1993. |
| 1993 |
Moses,P.A.: :
Cerebellar Ataxia in Jack Russell Terriers Veterinary Record 133:508, 1993. |
| 1991 |
Cachin,M.,Vandevelde,M.: :
Congenital Tremor with Spongy Degeneration of the Central Nervous System in Two Puppies Journal of Veterinary Internal Medicine 5:87-90, 1991. Pubmed reference: 2061870 . |
| 1991 |
Cachin,M.,Vandevelde,M.: :
Congenital Tremor with Spongy Degeneration of the Central Nervous System in Two Puppies Journal of Veterinary Internal Medicine 5:87-90, 1991. Pubmed reference: 2061870 . |
| 1985 |
Troncoso,J.C.,Cork,L.C.,Price,D.L.: :
Canine inherited ataxia: ultrastructural observations. J Neuropathol Exp Neurol 44:165-75, 1985. Pubmed reference: 3973637 . |
| 1984 |
Tiemeyer,M.J.,Singer,H.S.,Troncoso,J.C.,Cork,L.C.,Coyle,J.T.,Price,D.L.: :
Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of Gordon Setters. J Neuropathol Exp Neurol 43:580-91, 1984. Pubmed reference: 6502189 . |
| 1981 |
Steinberg,H.S.,Troncoso,J.C.,Cork,L.C.,Price,D.L.: :
Clinical features of inherited cerebellar degeneration in Gordon Setters Journal of the American Veterinary Medical Association 179:886-890, 1981. Pubmed reference: 7341602 . |
| 1980 |
Delahunta,A.,Fenner,W.R.,Indrieri,P.J.,Mellick,P.W.,Gardner,S.,Bell,J.S.: :
Hereditary cerebellar cortical abiotrophy in the Gordon Setter Journal of the American Veterinary Medical Association 177:538-541, 1980. Pubmed reference: 7440348 . |
| 1973 |
Hartley,W.J.,Palmer,A.C.: :
Ataxia in Jack Russell terriers. Acta Neuropathol 26:71-4, 1973. Pubmed reference: 4747697 . |
| 1973 |
Hartley,W.J.,Palmer,A.C.: :
Ataxia in Jack Russell terriers. Acta Neuropathol 26:71-4, 1973. Pubmed reference: 4747697 . |
| 1971 |
Tonttila,P.,Lindberg,L.A.: :
[Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish) Suomen Eläinlääkärilehti 77:135–138, 1971. |