The detail information of Neuronal ceroid lipofuscinosis, 2
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: 2006

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
CB83 Dachshund 20.3-22.9 cm (standard), 12.7-15.2 cm (miniature) 7.3-14.5 kg (standard), 5 kg & under (miniature) Germany
Associated Gene
Symbol Description Species Position Other Links
TPP1 tripeptidyl peptidase I Canis lupus familiaris Chr21 : 30753157 - 30747948 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.
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 .
2020 Whiting,R.E.H.,Pearce,J.W.,Vansteenkiste,D.P.,Bibi,K.,Lim,S.,Robinson,G.O.,Castaner,L.J.,Sinclair,J.,Chandra,S.,Nguyen,A.,O'Neill,C.A.,Katz,M.L.: :
Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res :108130, 2020.
Pubmed reference: 32622066 . DOI: 10.1016/j.exer.2020.108130 .
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 .
2016 Kohlschütter,A.,Schulz,A.: :
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). Pediatr Endocrinol Rev 13 Suppl 1:682-8, 2016.
Pubmed reference: 27491216 .
2016 Phillips,J.E.,Gomer,R.H.: :
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. Ann Transl Med 4:S20, 2016.
Pubmed reference: 27867988 . DOI: 10.21037/atm.2016.10.16 .
2016 Tracy,C.J.,Whiting,R.E.,Pearce,J.W.,Williamson,B.G.,Vansteenkiste,D.P.,Gillespie,L.E.,Castaner,L.J.,Bryan,J.N.,Coates,J.R.,Jensen,C.A.,Katz,M.L.: :
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 152:77-87, 2016.
Pubmed reference: 27637672 . DOI: 10.1016/j.exer.2016.09.003 .
2016 Whiting,R.E.,Jensen,C.A.,Pearce,J.W.,Gillespie,L.E.,Bristow,D.E.,Katz,M.L.: :
Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. Exp Eye Res 146:276-82, 2016.
Pubmed reference: 27039708 . DOI: 10.1016/j.exer.2016.03.023 .
2015 Katz,M.L.,Tecedor,L.,Chen,Y.,Williamson,B.G.,Lysenko,E.,Wininger,F.A.,Young,W.M.,Johnson,G.C.,Whiting,R.E.,Coates,J.R.,Davidson,B.L.: :
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci Transl Med 7:313ra180, 2015.
Pubmed reference: 26560358 . DOI: 10.1126/scitranslmed.aac6191 .
2015 Whiting,R.E.,Pearce,J.W.,Castaner,L.J.,Jensen,C.A.,Katz,R.J.,Gilliam,D.H.,Katz,M.L.: :
Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 134:123-32, 2015.
Pubmed reference: 25697710 . DOI: 10.1016/j.exer.2015.02.012 .
2014 Whiting,R.E.,Narfström,K.,Yao,G.,Pearce,J.W.,Coates,J.R.,Castaner,L.J.,Jensen,C.A.,Dougherty,B.N.,Vuillemenot,B.R.,Kennedy,D.,O'Neill,C.A.,Katz,M.L.: :
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res 125:164-72, 2014.
Pubmed reference: 24954537 . DOI: 10.1016/j.exer.2014.06.008 .
2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2013 Whiting,R.E.,Narfström,K.,Yao,G.,Pearce,J.W.,Coates,J.R.,Castaner,L.J.,Katz,M.L.: :
Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res :, 2013.
Pubmed reference: 24135299 . DOI: 10.1016/j.exer.2013.10.006 .
2011 Sanders,D.N.,Kanazono,S.,Wininger,F.A.,Whiting,R.E.,Flournoy,C.A.,Coates,J.R.,Castaner,L.J.,O'Brien,D.P.,Katz,M.L.: :
A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes Brain Behav :, 2011.
Pubmed reference: 21745338 . DOI: 10.1111/j.1601-183X.2011.00718.x .
2011 Vuillemenot,B.R.,Katz,M.L.,Coates,J.R.,Kennedy,D.,Tiger,P.,Kanazono,S.,Lobel,P.,Sohar,I.,Xu,S.,Cahayag,R.,Keve,S.,Koren,E.,Bunting,S.,Tsuruda,L.S.,O'Neill,C.A.: :
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Mol Genet Metab :, 2011.
Pubmed reference: 21784683 . DOI: 10.1016/j.ymgme.2011.06.018 .
2008 Katz,M.L.,Coates,J.R.,Cooper,J.J.,O'Brien,D.P.,Jeong,M.,Narfström,K.: :
Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 49:2686-95, 2008.
Pubmed reference: 18344450 . DOI: 10.1167/iovs.08-1712 .
2006 Awano,T.,Katz,ML.,O'Brien,DP.,Sohar,I.,Lobel,P.,Coates,JR.,Khan,S.,Johnson,GC.,Giger,U.,Johnson,GS.: :
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006.
Pubmed reference: 16621647 . DOI: 10.1016/j.ymgme.2006.02.016 .