The detail information of Krabbe disease
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: 1996

Species-specific name: globoid cell leukodystrophy

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB60 Cairn Terrier 25.4 cm (male), 24.1 cm (female) 6.4 kg (male), 5.9 kg (female) United Kingdom (Scotland)
CB255 West Highland White Terrier 27.9 cm (male). 25.4 cm, female 6.8-9.1 kg United Kingdom (Scotland)
Associated Gene
Symbol Description Species Position Other Links
GALC galactosylceramidase Canis lupus familiaris Chr8 : 59589663 - 59531522 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 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 .