Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 1996
Species-specific name: globoid cell leukodystrophy
Species-specific symbol: -
More detail information can see in
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
GALC | galactosylceramidase | Canis lupus familiaris | Chr8 : 59589663 - 59531522 | Homologene, Ensembl, NCBI gene |
2020 |
Corado,C.R.,Pinkstaff,J.,Jiang,X.,Galban,E.M.,Fisher,S.J.,Scholler,O.,Russell,C.,Bagel,J.H.,ODonnell,P.A.,Ory,D.S.,Vite,C.H.,Bradbury,A.M.: :
Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe disease). Mol Cell Neurosci 102:103451, 2020. Pubmed reference: 31794880 . DOI: 10.1016/j.mcn.2019.103451 . |
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 . |
2016 |
Bongarzone,E.R.,Escolar,M.L.,Gray,S.J.,Kafri,T.,Vite,C.H.,Sands,M.S.: :
Insights into the Pathogenesis and Treatment of Krabbe Disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217 . |
2016 |
Bradbury,A.M.,Bagel,J.H.,Jiang,X.,Swain,G.P.,Prociuk,M.L.,Fitzgerald,C.A.,O'Donnell,P.A.,Braund,K.G.,Ory,D.S.,Vite,C.H.: :
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease). J Neurosci Res 94:1007-17, 2016. Pubmed reference: 27638585 . DOI: 10.1002/jnr.23838 . |
2015 |
Graziano,A.C.,Cardile,V.: :
History, genetic, and recent advances on Krabbe disease. Gene 555:2-13, 2015. Pubmed reference: 25260228 . DOI: 10.1016/j.gene.2014.09.046 . |
2010 |
Fletcher,JL.,Williamson,P.,Horan,D.,Taylor,RM.: :
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). J Am Vet Med Assoc 237:682-8, 2010. Pubmed reference: 20839990 . DOI: 10.2460/javma.237.6.682 . |
2010 |
Monaldi,A.,MartínezMunera,A.M.: :
Globoid leukodystrophy in a West Highland terrier. / Leucodistrofia de células globoides en un westy. Argos—Informativo Veterinario 158:38-41, 2010. |
2008 |
Beltran,E.,Matiasek,L.A.,DeRisio,L.,Mellersh,C.,Platt,S.R.: :
Globoid cell leukodystrophy in a litter of kelpies with episodic cerebellar disease Journal of Veterinary Internal Medicine 22:723 only, 2008. |
2008 |
Capucchio,MT.,Prunotto,M.,Lotti,D.,Valazza,A.,Galloni,M.,Dore,B.,Pregel,P.,Amedeo,S.,Catalano,D.,Cornaglia,E.,Schiffer,D.: :
Krabbe's disease in two West Highland White terriers. Clin Neuropathol 27:295-301, 2008. Pubmed reference: 18808060 . |
2006 |
McGraw,RA.,Carmichael,KP.: :
Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J 171:370-2, 2006. Pubmed reference: 16490723 . DOI: 10.1016/j.tvjl.2004.10.019 . |
2000 |
McGowan,J.C.,Haskins,M.,Wenger,D.A.,Vite,C.: :
Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: Preliminary results Journal of Computer Assisted Tomography 24:316-321, 2000. Pubmed reference: 10752900 . |
2000 |
Wenger,D.A.: :
Murine, canine and non-human primate models of Krabbe disease Molecular Medicine Today 6:449-451, 2000. Pubmed reference: 11074371 . |
1999 |
Wenger,D.A.,Victoria,T.,Rafi,M.A.,Luzi,P.,Vanier,M.T.,Vite,C.,Patterson,D.F.,Haskins,M.H.: :
Globoid cell leukodystrophy in cairn and West Highland white terriers Journal of Heredity 90:138-142, 1999. Pubmed reference: 9987921 . |
1998 |
Cozzi,F.,Vite,C.H.,Wenger,D.A.,Victoria,T.,Haskins,M.E.: :
MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy Journal of Small Animal Practice 39:401-405, 1998. Pubmed reference: 9741878 . |
1996 |
Victoria,T.,Rafi,M.A.,Wenger,D.A.: :
Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers Genomics 33:457-462, 1996. Pubmed reference: 8661004 . DOI: 10.1006/geno.1996.0220 . |
1994 |
Poncelet,L.,Heimann,M.,Coignoul,F.,Balligand,M.: :
Globoid cell leucodystrophy in seven West Highland White Terrier pups Annales de Medecine Veterinaire 138:513-519, 1994. |
1985 |
Suzuki,K.,Suzuki,K.: :
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol 3:53-68, 1985. Pubmed reference: 3895053 . |
1979 |
Bjerkas,I.: :
Hereditary leukodystrophy in Dalmatian dogs in Norway Norsk Veterinaertidsskrift 91:167-170, 1979. |
1976 |
Yunis,E.J.,Lee,R.E.: :
The morphologic similarities of human and canine globoid leukodystrophy American Journal of Pathology 85:99-114, 1976. Pubmed reference: 970445 . |
1974 |
Boysen,B.G.,Tryphonas,L.,Harries,N.W.: :
Globoid cell leukodystrophy in the Bluetick Hound dog. I. Clinical manifestations Canadian Veterinary Journal 15:303-308, 1974. |
1971 |
Fletcher,T.F.,Lee,D.G.,Hummer,R.F.: :
Ultrastructural features of globoid cell leukodystrophy in the dog American Journal of Veterinary Research 32:177-181, 1971. Pubmed reference: 5099954 . |
1971 |
Howell,J.McC.,Palmer,A.C.: :
Globoid cell leukodystrophy in two dogs Journal of Small Animal Practice 12:633-642, 1971. Pubmed reference: 5167788 . |
1971 |
Suzuki,Y.,Suzuki,K.: :
Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts Science 171:73-75, 1971. Pubmed reference: 5538703 . |
1970 |
Suzuki,K.: :
Ultrastructural study of experimental globoid cells Laboratory Investigation 23:612-619, 1970. Pubmed reference: 5484847 . |