The detail information of Neuronal ceroid lipofuscinosis, 1
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: 2010

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
CB62 Cane Corso(Italian Mastiff) 63.5-69.9 cm (male), 59.7-66 cm (female) Proportionate to height Italy
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 .
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 .
2017 Kolicheski,A.,BarnesHeller,H.L.,Arnold,S.,Schnabel,R.D.,Taylor,J.F.,Knox,C.A.,Mhlanga-Mutangadura,T.,O'Brien,D.P.,Johnson,G.S.,Dreyfus,J.,Katz,M.L.: :
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. J Vet Intern Med 31:149-157, 2017.
Pubmed reference: 28008682 . DOI: 10.1111/jvim.14632 .
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 .
2010 Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010.
Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 .
2010 Sanders,DN.,Farias,FH.,Johnson,GS.,Chiang,V.,Cook,JR.,O'Brien,DP.,Hofmann,SL.,Lu,JY.,Katz,ML.: :
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-56, 2010.
Pubmed reference: 20494602 . DOI: 10.1016/j.ymgme.2010.04.009 .