The detail information of Neuronal ceroid lipofuscinosis, 12
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: 2011

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB244 Tibetan Terrier 35.6-43.2 cm (male), slightly smaller (female) 8.2-13.6 kg (male), slightly smaller (female) Tibet
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.
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2019 Schmutz,I.,Jagannathan,V.,Bartenschlager,F.,Stein,V.M.,Gruber,A.D.,Leeb,T.,Katz,M.L.: :
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab 127:95-106, 2019.
Pubmed reference: 30956123 . DOI: 10.1016/j.ymgme.2018.11.015 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2011 Farias,F.H.,Zeng,R.,Johnson,G.S.,Wininger,F.A.,Taylor,J.F.,Schnabel,R.D.,McKay,S.D.,Sanders,D.N.,Lohi,H.,Seppälä,E.H.,Wade,C.M.,Lindblad-Toh,K.,O'Brien,D.P.,Katz,M.L.: :
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 42:468-74, 2011.
Pubmed reference: 21362476 . DOI: 10.1016/j.nbd.2011.02.009 .
2011 Wöhlke,A.,Philipp,U.,Bock,P.,Beineke,A.,Lichtner,P.,Meitinger,T.,Distl,O.: :
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet 7:e1002304, 2011.
Pubmed reference: 22022275 . DOI: 10.1371/journal.pgen.1002304 .
2007 Katz,ML.,Sanders,DN.,Mooney,BP.,Johnson,GS.: :
Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metab Dis 30:952-63, 2007.
Pubmed reference: 18004671 . DOI: 10.1007/s10545-007-0683-y .
2005 Drogemulller,C.,Wohlke,A.,Distl,O.: :
Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet 36:178-9, 2005.
Pubmed reference: 15771740 . DOI: 10.1111/j.1365-2052.2005.01254.x .
2005 Katz,ML.,Narfstrom,K.,Johnson,GS.,O'Brien,DP.: :
Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res 66:67-76, 2005.
Pubmed reference: 15691038 .
2002 Katz,M.L.,Sanders,D.A.,Sanders,D.N.,Hansen,E.A.,Johnson,G.S.: :
Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers. Am J Vet Res 63:890-5, 2002.
Pubmed reference: 12061538 .
1992 Alroy,J.,Schelling,SH.,Thalhammer,JG.,Raghavan,SS.,Natowicz,MR.,Prence,EM.,Orgad,U.: :
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. Acta Neuropathol 84:658-63, 1992.
Pubmed reference: 1471473 .
1992 Riis,R.C.,Cummings,J.F.,Loew,E.R.,Delahunta,A.: :
Tibetan Terrier Model of Canine Ceroid Lipofuscinosis American Journal of Medical Genetics 42:615-621, 1992.
Pubmed reference: 1609844 . DOI: 10.1002/ajmg.1320420437 .