The detail information of Ataxia, spinocerebellar, CAPN1-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: 2013

Species-specific name: spinocerebellar ataxia, hereditary ataxia

Species-specific symbol: SCA

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
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)
Associated Gene
Symbol Description Species Position Other Links
CAPN1 calpain 1, (mu/I) large subunit Canis lupus familiaris Chr18 : 53053236 - 53024769 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.
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 .
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 .
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 .
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 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 .
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 .