The detail information of Globoid cell leukodystrophy
Basic Information

Disease Ontology ID: DDTO:0000705

Disease Description: Abnormal development and/or function of certain types of white globoid cells in the brain. Krabbe disease.

Inherit Mode: This is a rare disorder that is seen most often in the Cairn and West Highland white terriers, in which it is inherited as an autosomal recessive trait. It is also autosomal recessive in the miniature poodle, Irish setter and Australian kelpie. The mode of inheritance is unknown in other breeds.

Disease Symptom: Puppies affected with GCL are normal at birth but grow more slowly than their littermates, and begin to to show signs of incoordination by 3 to 6 months. You may see tremors, a stiff gait, weakness, poor balance (falling to one side, stumbling), changes in behaviour or attitude, and vision changes. The disease is rapidly progressive and is invariably fatal. Affected dogs generally die or are euthanized by about 12 months.

Disease Cause: -

Disease Diagnose: Your veterinarian will do a thorough neurologic exam on your dog. Diagnostic tests for other conditions that might cause your dog's signs will show no abnormalities. As the disease progresses, magnetic resonance imaging (if available) will show diffuse disease in the white matter. There is a DNAtest available through HealthGene that will identiify normal, carrier (heterozygous) and affected Cairn terriers and Westies. A DNA test is also available in some other breeds. See the Orthopedic Foundation of America's currently available tests for more information.

Treat Method: Unfortunately there is no treatment for this condition. Your veterinarian will help you decide when your dog's condition has deteriorated to the point where euthanasia is the best option.

Breeder Advice: Affected animals and their parents (who are carriers of the defective gene) should not be bred. There is a DNAtest available through HealthGene that will identiify normal, carrier (heterozygous) and affected Cairn terriers and Westies. A DNA test is also available in some other breeds. See the Orthopedic Foundation of America's currently available tests for more information.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Krabbe disease globoid cell leukodystrophy Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB24 English Beagle Merry, friendly, and curious 33 cm & under 33-38.1 cm under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) United Kingdom (England)
CB40 Bluetick Coonhound Smart,Fearless 55.9-68.6 cm (male), 53.3-63.5 cm (female) 24.9-36.3 kg (male), 20.4-29.5 kg (female) United States
CB60 Cairn Terrier Cheerful, alert, busy and independent-minded 25.4 cm (male), 24.1 cm (female) 6.4 kg (male), 5.9 kg (female) United Kingdom (Scotland)
CB84 Dalmatian Stable, Outgoing;Dignified but never shy 48.3-61 cm 20.4-31.8 kg Croatia
CB131 Irish Setter Outgoing, sweet-natured, active, and trainable 68.6 cm (male), 63.5 cm (female) 31.8 kg (male), 27.2 kg (female) Ireland
CB255 West Highland White Terrier Happy, smart, loyal, entertaining 27.9 cm (male). 25.4 cm, female 6.8-9.1 kg United Kingdom (Scotland)
CB266 Australian Kelpie Alert, eager and highly intelligent, with an inexhaustible energy, loyalty and devotion to duty. 43-51 cm Australia
CB268 Miniature Poodle Intelligent, Eager-to-please , Charming companion 25-38 cm 4.5-6.8kg France&Germany
CB23 Bavarian Mountain Scent Hound Loyal, Versatile, Reserved with Strangers 17-20.5 inches 37-66 pound
CB25 Bearded Collie Bouncy, charismatic, friendly; smart, but also stubborn and independent 53.3-55.9 cm (male), 50.8-53.3 cm (female) 20.4-24.9 kg United Kingdom (Scotland)
CB41 Boerboel(South African Mastiff) Smart, dominant, protective, confident; loving with family, especially kids 61-68.6 cm (male), 55.9-63.5 cm (female) 68-90.7 kg South Africa
CB61 Canaan Dog Alert, vigilant, territorial; docile with family, aloof with strangers 50.8-61 cm (male), 48.3-58.4 cm (female) 20.4-24.9 kg (male), 15.9-20.4 kg (female) Middle East Lebanon - Israel
CB85 Dandie Dinmont Terrier Independent, proud, smart; affectionate at home, bold and tenacious in the field 20.3-27.9 cm 8.2-10.9 kg United Kingdom (Scotland)
CB188 Poodle Proud, active and very smart 25.4 cm & under (toy), 25.4-38.1 cm (miniature), over 38.1 cm (standard) 1.8-2.7 kg (toy), 4.5-6.8 kg (miniature), 27.2-31.8 kg (male standard), 18.1-22.7 kg (female standard) Germany, France
CB256 English Whippet Calm, affectionate, and playful 48.3-55.9 cm (male), 45.7-53.3 cm (female) 11.3-18.1 kg England
CB270 Toy Poodle Intelligent, eager to please, quick to learn and an affectionate, loyal pet. under 25 cm
Associated Disease Variants from OMIA
Gene Differential Expression
References
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 .
2007 Packer RA. :
Storage diseases Côté E, ed. Clinical Veterinary Advisor Dogs and Cats Missouri: MosbyElsevier, 2007:1041-1043.
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 .
2004 Coates JR, O'Brien DP :
Inherited peripheral neuropathies in dogs and cats Vet Clin North Am Small Anim Pract 34:1361-1401
2000 Wenger,D.A.: :
Murine, canine and non-human primate models of Krabbe disease Molecular Medicine Today 6:449-451, 2000.
Pubmed reference: 11074371 .
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 .
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 .