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Globoid Cell Leukodystrophy (Irish Setter Type)

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Test Overview:

Globoid Cell Leukodystrophy (Irish Setter Type) affects dogs and is an inherited lysosomal storage disorder. Dogs who are affected by this disorder are normal at birth, however, around 3 to 6 months of age, they may begin to show signs of muscle weakness and uncoordinated movement. These affected dogs have a deficiency in the galactocerebrosidase enzyme, which is responsible for the breaking down of Myelin in the nervous system. Due to this deficiency, there becomes an accumulation of the fatty myelin bi-products, and these affect the ability of certain nervous cells to make myelin. Symptoms of this disorder include widely spaced stance, crossing legs while walking, jerky movements, body tremors and high stepping. Furthermore, overall muscle tone decreases and reflexes become decreased or absent. As the disease progresses, blindness, paralysis and death can occur.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GALC

Variant Detected:

chr8:59294611-59294612 (canFam3): 78 bp insertion; chr8:59294612-59294627 (canFam3): 16 bp duplication (dup GATTTTAGCACTTTAA)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the GALC gene will reliably determine if a dog is a genetic carrier of globoid cell leukodystrophy (Irish setter type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/16490723/ Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, GA [internet]. AFIP Wednesday Slide Conference - No. 2 ; Case IV - 98A-2995 (AFIP 2641931) 9 September 1998 [cited 23 Dec 2013] Available at http://www.askjpc.org/wsco/wsc/wsc98/98wsc02.htm. McGraw RA, Carmichael KP. Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J. 2006 Mar; 171(2):370-2. [PubMed: 16490723]

Associated Breed(s):

Irish Red and White Setter, Irish Setter,

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