The detail information of Ataxia, cerebellar, KCNJ10-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: 2014

Species-specific name: Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1)

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB227 Smooth Fox Terrier Not exceeding 39 cm in dogs, bitches slightly less. Dogs: 7,5 - 8 kgs.Bitches: 7 - 7,5 kgs United Kingdom (England)
CB30 Belgian Shepherd Dog 61-66 cm (male), 55.9-61 cm (female) 24.9-34 kg (male), 20.4-27.2 kg (female) Belgium
CB361 Kooikerhondje(Little Cager Dog) 35.6-40.6 cm Netherlands
CB177 Parson Russell Terrier 35.6 cm (male), 33 cm (female) 5.9-7.7 kg United Kingdom (England)
CB206 Russell Terrier 25.4-30.5 cm 4.1-6.8 kg United Kingdom (England)
Associated Gene
There are no associated genes.
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.
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 .
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 .
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 .
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 .
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 .
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 .
1973 Hartley,W.J.,Palmer,A.C.: :
Ataxia in Jack Russell terriers. Acta Neuropathol 26:71-4, 1973.
Pubmed reference: 4747697 .