The detail information of Neuronal ceroid lipofuscinosis, 10
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
CB264 American Bulldog 55.9-68.6 cm (male), 50.8 to 63.5 cm (female) 34-45.5kg(male),27.2-36.3kg(female) United States
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 .
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 .
2006 Awano,T.,Katz,ML.,O'Brien,DP.,Taylor,JF.,Evans,J.,Khan,S.,Sohar,I.,Lobel,P.,Johnson,GS.: :
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006.
Pubmed reference: 16386934 . DOI: 10.1016/j.ymgme.2005.11.005 .
2005 Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med 19:44-51, 2005.
Pubmed reference: 15715047 .
2005 Wöhlke,A.,Distl,O.,Drögemüller,C.: :
The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis. Anim Genet 36:530-2, 2005.
Pubmed reference: 16293139 . DOI: 10.1111/j.1365-2052.2005.01375.x .