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
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
CAPN1 | calpain 1, (mu/I) large subunit | Canis lupus familiaris | Chr18 : 53053236 - 53024769 | Homologene, Ensembl, NCBI gene |
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 . |