The detail information of Lysosomal storage disease, ARSG 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: 2010

Species-specific name: Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB11 American Staffordshire Terrier 18-19 inches (male), 17-18 inches (female) 55-70 pounds (male), 40-55 pounds (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 .
2016 Nolte,A.,Bello,A.,Drögemüller,M.,Leeb,T.,Brockhaus,E.,Baumgärtner,W.,Wohlsein,P.: :
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierarztl Prax Ausg K Kleintiere Heimtiere 44:, 2016.
Pubmed reference: 27778018 . DOI: 10.15654/TPK-150766 .
2015 Kowalewski,B.,Heimann,P.,Ortkras,T.,Lüllmann-Rauch,R.,Sawada,T.,Walkley,S.U.,Dierks,T.,Damme,M.: :
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet 24:1856-68, 2015.
Pubmed reference: 25452429 . DOI: 10.1093/hmg/ddu603 .
2014 Kowalewski,B.,Lübke,T.,Kollmann,K.,Braulke,T.,Reinheckel,T.,Dierks,T.,Damme,M.: :
Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity. J Biol Chem 289:27992-8005, 2014.
Pubmed reference: 25135642 . DOI: 10.1074/jbc.M114.584144 .
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 Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013.
Pubmed reference: 24069350 . DOI: 10.1371/journal.pone.0074811 .
2012 Kowalewski,B.,Lamanna,W.C.,Lawrence,R.,Damme,M.,Stroobants,S.,Padva,M.,Kalus,I.,Frese,M.A.,Lübke,T.,Lüllmann-Rauch,R.,D'Hooge,R.,Esko,J.D.,Dierks,T.: :
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A 109:10310-5, 2012.
Pubmed reference: 22689975 . DOI: 10.1073/pnas.1202071109 .
2010 Abitbol,M.,Thibaud,J.L.,Olby,N.J.,Hitte,C.,Puech,J.P.,Maurer,M.,Pilot-Storck,F.,Hédan,B.,Dréano,S.,Brahimi,S.,Delattre,D.,André,C.,Gray,F.,Delisle,F.,Caillaud,C.,Bernex,F.,Panthier,J.J.,Aubin-Houzelstein,G.,Blot,S.,Tiret,L.: :
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010.
Pubmed reference: 20679209 . DOI: 10.1073/pnas.0914206107 .
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 .
2006 Buijtels,J.J.,Kroeze,E.J.,Voorhout,G.,Schellens,C.J.,vanNes,J.J.: :
[Cerebellar cortical degeneration in an American Staffordshire terrier]. Tijdschr Diergeneeskd 131:518-22, 2006.
Pubmed reference: 16916197 .
2004 Olby,N.,Blot,S.,Thibaud,JL.,Phillips,J.,O'Brien,DP.,Burr,J.,Berg,J.,Brown,T.,Breen,M.: :
Cerebellar cortical degeneration in adult American Staffordshire Terriers. J Vet Intern Med 18:201-8, 2004.
Pubmed reference: 15058771 .
2004 Sisó,S.,Navarro,C.,Hanzlícek,D.,Vandevelde,M.: :
Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol 108:386-92, 2004.
Pubmed reference: 15365721 . DOI: 10.1007/s00401-004-0902-7 .
2003 Hanzlicek,D.,Kathmann,I.,Bley,T.,Srenk,P.,Botteron,C.,Gaillard,C.,Jaggy,A.: :
[Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases] Schweizer Archiv fur Tierheilkunde 145:369-75, 2003.
Pubmed reference: 12951908 .