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Gangliosidosis GM2A (Feline)

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Test Overview:

Gangliosidosis GM2A affects cats and is a lysosomal storage disease. This disease results from a beta-N-acetylhexosaminidase deficiency that causes an accumulation of GM2 gangliosides in the brain tissue. It can lead to an impairment of the central nervous system that can be fatal. Usually the first signs are unsteady gait, head and hind limb tremors, falling and wide stance. Late symptoms can consist of mobility loss, blindness and epileptic seizures.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GM2A

Variant Detected:

c.516_519del

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Gangliosidosis GM2A.

Research Citation(s):

Martin, DR., Cox, NR., Morrison, NE., Kennamer, DM., Peck, SL., Dodson, AN., Gentry, AS., Griffin, B., Rolsma, MD., Baker, HJ. : Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol (Berl) 110:443-50, 2005. Pubmed reference: 16200419

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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