The detail information of Ataxia, cerebellar, juvenile to adolescent, RAB24-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: Canine hereditary ataxia

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB117 Gordon Setter 61-68.6 cm (male), 58.4-66 cm (female) 24.9-36.3 kg (male), 20.4-31.8 kg (female) United Kingdom (Scotland)
CB174 Old English Shepherd Dog 55.9 cm & up (male), 53.3 cm & up (female) 27.2-45.4 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.
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 .
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 .
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 .